Human Variome Project in Beijing

Thursday, 8 December 2011 to Monday, 12 December 2011 from 8:30 AM - 3:30 PM

Radegast Lake View Hotel, Beijing, China




Organisation: Human Variome Project International Ltd

Position: Chairman of the Board

David is currently an Executive Director of The CASS Foundation Limited, Chairman of four syndicates of Chief Executive Officers, Chairman of The Knox School Limited, and Chairman of the Human Variome Project International Limited, an international consortium that is documenting and sharing information on all genetic variation affecting human disease.
He has been actively involved in the Education Sector as a director of Taylors Schools, Study Group International, Ruyton Girls School and as Chair of the Council at Ormond College, The University of Melbourne.

He was formerly Chairman of Sirius Telecommunications Limited, Chairman of the Australian Health Service Alliance Limited, Thirteenth Beach Golf Links Limited, The Liberty Group (County Court of Victoria), Deputy Chairman of Generation Victoria, a director of St Hilliers Holdings Pty Limited, and a director of Davis Langdon Australasia (now AECOM). He was the Facilitator on the Melbourne City Link Project, the Probity Adviser for the Melbourne Cricket Ground redevelopment, the Facilitator to four Universities on the Docklands Project, Due Diligence Adviser to the Vice Chancellor at The University of Melbourne and the Commissioner conducting a Commission of Enquiry investigating governance at Nillimbuk Council.

He has been a consultant retained as a business, legal and property consultant on various projects in Australia and New Zealand. He is a lawyer and was formerly Managing Partner of a city legal firm.

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Organisation: Faculty of Medicine, Assiut University Hospital, Beni Sueif, Egypt

Position: Associate Professor of Neurology

Dr. Hamed has interest in the field of Neurology, Pediatric Neurology, Neuroscience, neuroregeneration, Neurogenetics, Neuroimmunology, Neuropsychopharmacolog and Neuroimmunology. She supervised many thesis works for master and doctorate degrees. She is interested in neurogenetic (diagnostics and therapeutics). She has more than 75 international publications, 16 review articles, 6 book chapters, a single book and 4 editorial commentaries. She served in the editorial board of 9 journals, as a reviewer for 39 medical journals. She is now working in two big projects (with colleagues from Harvard Medical school, Boston, USA and Queen Square Hospital, London, UK) for mutational, linkage analyses of neurogenetic disorders including limb girdle muscular dystrophy, hereditary ataxia, peripheral neuropathy, mitochondrial cytopathy, hereditary spastic paraplegia, Parkinson's disease and many others Dr. Hamed is a member of Human variome project and the director of the Neurogenetic program emerging program in Egypt. 

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Organisation: Centre for Arab Genomic Studies

Position: President

Secretary General - Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences

President - Centre for Arab Genomic Studies

Professor of Surgery- Dubai Medical College for Girls

- CEO - Majid Al Futtaim Health Care 2008 - till present

Past Positions:

-Head of Cardiothoracic Surgery Department- Dubai Hospital 1992- 2003

-Director of Cardiology & Cardiothoracic Surgery Centre - Dubai Hospital 2003-2008

Professor Najib Al Khaja, UAE National & born in Dubai.

Professor Al Khaja passed the Bachelor of Medicine and Bachelor of Surgery from Ain Shams University, Cairo, Egypt in 1981. Professor Al Khaja specialized in Cardiothoracic Surgery from University of Gothenburg, Sweden in 1991, where he obtained the Swedish Board Degree, followed by Ph.D. in Cardiac Surgery from the same university. He is was also appointed by the University of Gothenburg as an Associate Professor in 1991.

Prof. Al Khaja was the first UAE National Cardiothoracic Surgeon, following his return from studies in 1992. His first assignment was to establish the Department of Cardiothoracic Surgery in Dubai Hospital, which was accomplished successfully & the unit is a known Centre in the region. During his surgical career he performed thousands of cardiac surgery procedures of different types; Professor Al Khaja is a well-known surgeon in UAE & in the region. His tremendous input in the field has added great value to the cardiac services specifically & to the medical services in general. He had a significant role in developing new services, an example of which is the Intensive Care Units. His contribution continued when he became the Director of the Cardiac Centre, which led to significant changes & improvements in cardiac services, where new cardiology services were added to the existing ones.

Professor Al Khaja is also well known for his interest in Research, having published more than 100 scientific papers & approximately 200 abstracts presented in different scientific meetings. He is the founding “Editor of Journal of Medical Sciences” in UAE & editor in several international journals

Professor Al Khaja holds the post of Professor of Surgery in DMC for Girls. He is also a member of Board of Trustees of Arabian Gulf University - Bahrain; and Board of Trustees Gulf Medical College - Ajman. He is also a member of many regional & international Medical Societies.

Professor Al Khaja is a secretary General of Sheikh Hamdan Award for Medical Sciences, a very prestigious medical award world-wide. The award plays a significant role in promoting medical activities and functions like research, conferences, courses and medical community activities.

Genetics is another medical field in which Professor Al Khaja is interested in, as the President of Centre of Arab Genomic Studies, which was established in 2005. The Centre holds the achievement of collecting & having the biggest Data Base of genetic Diseases in the Arab World & the 2nd biggest Database of genetic Disorders in the world. In addition to supporting Genetic Research in the region.

In addition to several Awards, in 1999 Professor Al Khaja was awarded the Best Employee of the year from DOHMS and also awarded a Special Recognition Award by Dubai Excellency Award for establishment of the Cardiac Surgery Department as part of his distinguished role in the field in 2000.

In 2007, he was also awarded, by H H Sheikh Khalifa Bin Zayed Al Nehyan, President of UAE; the UAE RECOGNITION AWARD in the field of Science & Medicine, which is one of the most prestigious awards in the Country.

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Organisation: Kuwait University

Position: Associate Professor, Head of Molecular Pathology

Fahd Al-Mulla is the Director of the Research Core Facility (RCF) in Kuwait University Health Sciences Center. He is a Fellow of the Royal College of Physicians of Edinburgh. After he gained his M.B.,Ch.B., Ph.D degrees from Glasgow U.K and postdoctoral training, he realized the lack of infrastructure pertaining to the fields of Genomics, Proteomics and cellular Biology in his home University. To alleviate the suffering of his fellow researchers and future recruits, he established a state-of-the-art facility specialized in molecular technology. RCF can be visited by clicking on this link ( He heads a Molecular Pathology Unit, which aims at delivering state-of-the-art diagnostic, targeted/personalized therapy for cancer patients and molecular genetics (
Currently, as Head of Molecular Pathology, he is focused on identification of novel metastasis suppressor genes in colorectal cancer and spearheads a collaborative effort to promote public awareness as regards to the importance of scientific research outputs in resolving society’s problems and in expediting the scientific development process in the Arab world especially in the field of the Arab Genome, the Human Variome Project and their relevance and application to clinical pathology. To that end, Dr. Al-Mulla aims at narrowing the gap in technological advancement and health inequalities between the West and the Middle East.
Dr. Al-Mulla’s identified and characterized two metastasis suppressor genes. His work now focuses on identifying mechanisms of RAF Kinase Inhibitory Protein (RKIP) metastasis suppression.

Selected Publications

Hagan S, Al-Mulla F, Mallon E, Oien K, Ferrier R, Gusterson B, Garcia JJ, Kolch W
Reduction of Raf-1 kinase inhibitor protein expression correlates with breast cancer metastasis. Clin Cancer Res. 2005 Oct 15;11(20):7392-7.

Fahd Al-Mulla, Suzanne Hagan, Abdulla I. Behbehani, Milad S. Bitar, Shirley S. George, James J. Going, Jorge J. Curto García, Lucy Scott, Nicky Fyfe, Graeme I. Murray and Walter Kolch Raf Kinase Inhibitor Protein (RKIP) expression in a survival analysis of colorectal cancer. J Clin Oncol. 2006 Dec 20;24(36):5672-9

Fahd Al-Mulla, Milad S. Bitar, Abdulla I. Behbehani, Govindarajulu Varadharaj, James J. Going Genetic Profiling of primary tumours predicts metastatic recurrence in early stage colorectal cancer. Mod Pathol. 2006 May;19(5):648-58.

Fahd Al-Mulla, Milad S. Bitar, May Al-Maghrebi, Abdulla I. Behbehani, Waleed Al-Ali, Oliver Rath, Brendan Doyle, Kit Yee Tan, Andrew Pitt, Walter Kolch.
Raf kinase inhibitor protein RKIP enhances signaling by glycogen synthase kinase-3?
Cancer Research 2011 Feb 15;71(4):1334-43.

Fahd al-Mulla, Milad S. Bitar, Zainab Taqi, Oliver Rath and Walter Kolch.

Raf Kinase inhibitory protein (RKIP) modulates cell cycle kinetics and motility
Molecular Biosystems 2011 Mar 1;7(3):928-41.
Patrinos GP, Al Aama J, Al Aqeel A, Al-Mulla F, Borg J, Devereux A, Felice AE, Macrae F, Marafie MJ, Petersen MB, Qi M, Ramesar RS, Zlotogora J, Cotton RG.Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection. Hum Mutat. 2011 Jan;32(1):2-9


Organisation: School of Medical Sciences, Universiti Sains Malaysia

Position: Consultant Paediatrician & Clinical Geneticist

Professor Dr. Zilfalil Alwi, is currently working as a Consultant Paediatrician and Clinical Geneticist, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan.

He started his medical career as a medical officer in 1991 after completing his Bachelor of Medicine and Bachelor of Surgery (MBBS) degree at University of Dacca, Bangladesh. He joined Universiti Sains Malaysia (USM) School of Medical Sciences as a Trainee Lecturer in 1994, and was later awarded the Master of Medicine (MMed) in Pediatrics from USM. He then obtained a Masters degree (MSc) in Medical Genetics from University of Glasgow, United Kingdom and then continued his studies at University of Aston, United Kingdom, where he was awarded Doctor of Philosophy (PhD) in Pharmacogenetics.

His research interest includes genetics of childhood Spinal Muscular Atrophy (SMN genes & NAIP gene), population genomics (genetic diversity of the Malay race), and genome wide studies on diseases common to the local population. He has published more than 60 papers in international and local journals and presented more than 100 papers at local and international conferences.

He is a member of the Pan-Asia SNP research consortium which studies the genomic profile of the Asian population. He is also the head of the Malaysian node of the Human Variome project, a global effort focused on the collection, collation and curation of genomic variations of all world population and for use globally.

Professor Zilfalil is the Chief Editor of GENETIK, the official Bulletin of the Genetics Society of Malaysia. He is also the Chief Editor of the Malaysian Journal of Paediatrics and Child Health.

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Organisation: Human Variome Project International Ltd

Position: Board Member

Chris Arnold

Board Member, Human Variome Project International Ltd

Chris Arnold brings experience from six CEO and nine board member roles, across the government, corporate and not for profit sectors in health, legal services and accounting & financial services industries. His health experience includes as a Victorian Government Deputy Regional Director, consultant, Deputy CEO of a major teaching hospital, private hospital group CEO and research institute board member. He has worked as an adviser and supporter with the precursor organisations to the HVPI ltd for over 15 years.

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Organisation: The Rockefeller University, New York, USA

Position: Fanconi database curator

Dr. Auerbach's research at The Rockefeller University since 1982 has focused on Fanconi anemia (FA), a genetically heterogeneous recessively inherited syndrome characterized by developmental abnormalities, life-threatening bone-marrow failure and predisposition to a variety of cancers, particularly acute myelogenous leukemia and squamous cell carcinoma. Among the fifteen Fanconi proteins that have been identified, several are known to predispose heterozygous carriers to breast cancer. Dr. Auerbach's work led to development of the “gold-standard” test for prenatal as well as postnatal diagnosis of FA. Her work on the prenatal diagnosis of FA played a major role in the use of this syndrome as a model for the development of umbilical cord blood transplantation as an alternative to bone marrow transplantation in the treatment of numerous hematologic disorders, and the use of pre-implantation genetic diagnosis (PGD)/in vitro fertilization (IVF) to identify embryos that will be “savior siblings”, their cord blood collected at birth serving as a source of HLA-matched healthy hematopoietic stem cells for transplant. Researchers who study Fanconi anemia have access to a large number of patient samples of defined genotype and phenotype, available through the International Fanconi Anemia Registry (IFAR), founded at Rockefeller by Auerbach in 1982. Auerbach is curator of the Locus Specific Database (LSDB) FA (Fanconi Anemia Mutation Database), started in 1997, which includes all FA genes. She is a Founding Fellow of the American College of Medical Genetics, served as elected Council Delegate from Medical Sciences to the AAAS (2003-2006), is a Fellow of the AAAS (elected 2006), received several awards from the Fanconi Anemia Research Fund (Lifetime Achievement Award, Founder Award and Discovery Award 3 times), and received a MERIT grant award from NIH/NHLBI (1997-2007). Editorial responsibilities have included Cytogenetics and Cell Genetics, Cancer Genetics and Cytogenetics and Human Mutation. She served several terms as a member of the Board of Directors of HGVS starting with its inception in 2001, and served on the Scientific Organizing Committee for the HVP meetings in 2006, 2008 and 2010.

Organisation: UNESCO

Position: International Scientific Advisory Board

Angelo Azzi obtained an M.D. at the University of Padua, Italy (1963), where he continued as Assistant Professor (1963-1966) After a postdoctoral training in the Department of Biophysics University of Pennsylvania (1967-1969) he returned to Padua where he obtained a PhD in Pathophysiology (1969) and in Biochemistry (1970) followed by an appointment as Associate Professor (1970-1975) and Full Professor (1976-1977). He moved then to Bern (Switzerland) as Professor & Head of Department, Medical Chemistry Institute, University of Bern (1977-1984) and later Professor and Director of the Institute for Biochemistry and Molecular Biology (1984-2005). He moved to Boston (USA) wher he was first a Visiting Scientist (2005) and later a Senior Scientist (2006-).of the HNCRA at Tufts University. In his research he published ~400 articles and was invited speaker at ~200 international meetings. He has carried out research on mitochondria; cytochromes; membranes; transporters; protein kinase C and signal transduction; the molecular function of tocopherols and carotenoids. He has been involved in a number of editorial activities such as Editor-in-Chief IUBMB Life; Editor-in-Chief Molecular Aspects of Medicine; Review Editor BioFactors. As member of International Organizations it is worth mentioning his membership in the Advisory committee Danone Foundation (1990-1999); the Chair of the Scientific Council -Warsaw International Institute of Cell and Molecular Biology (1997-2007); the Chair of UNESCO-MCBN (1991-2001); the Membership in ISAB (Intl. scientific advisory board of UNESCO) (1997-today). He has been also Member of the IUBMB executive committee and Chair of the Publication Committee (1997-2006); President International Society of Vitamins and Related Biofactors (2007-2008); President of MCBN (Global Network for Cell and Molecular Biology), NGO, Geneva (2001-2008); President (1999-2000) European Society for Free Radical Research and Member of the council (1996-2000); Secretary General Society for Free Radical Research International and Member of the Council and President (2003-2010); Member of the Jury of the L'OrÈal-UNESCO Price "Women in Science" (1996-2003); President of the 13th Congress SFRRI- Davos (Switzerland) 2006; President of the IUBMB (2007-today). Among the awards he received there are the Foreign membership of the Polish Academy of Sciences (1994); Corresponding Membership of the Nordrhein-Westf?lischen Akademie der Wissenschaften (1999); the PhD h. c., University of Buenos Aires (2001) , the Oxygen Club of California Award (2001); and the Vitamin Preis, Gesellschaft f¸r angewandte Vitaminforschung (2002)

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Organisation: GEN2PHEN

Position: Professor of Bioinformatics and Genomics

Professor Anthony Brookes is an expert in genomics and bioinformatics, having made contributions to disease and population genetics, DNA variation analysis, and data management/exploitation systems for biomedical information. He has published over 150 peer reviewed articles and reviews. He has served two 3-year terms on the HUGO Council, co-founded the Human Genome Variation Society, leads an international meeting series on genome variation, jointly designed the standard ‘PML’
data model for SNP information, and filed 6 patent applications on cloning, genotyping, and DNA analysis methods. In his current position as ‘Professor of Bioinformatics and Genomics’ at the world-renowned Genetics department of the University of Leicester (UK), he is continuing these areas of work, with a particular focus upon methods for DNA diagnostics, and bioinformatics innovations that will enable systems medicine. This is reflected, not least, by running the world's largest 'GWAS Central' database (, and leadership roles in the EC-FP7 projects GEN2PHEN (, READNA (, and BioSHaRE (

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Organisation: Newcastle University, Newcastle upon Tyne

Position: Professor of Clinical Genetics

Professor Sir John Burn Kt MD FRCP FRCPE FRCPCH FRCOG FMedSci

Professor of Clinical Genetics, Newcastle University, Newcastle upon Tyne, UK

Sir John was knighted in the 2010 New Year’s Honours list for services to Medicine and Healthcare. He was born and raised in North East England and attended Newcastle University Medical School. In 1973 he was awarded a first class honours degree in Medical Science after an intercalated year in Human Genetics. He completed medical and paediatric rotations before being appointed Clinical Scientific Officer at the MRC Clinical Genetics Unit in London. As honorary senior registrar at the Hospital for Sick Children Great Ormond Street he completed training as a clinical geneticist and was became the first specialist in the field in the North East in 1984. From 1989 - 2004 he led a unified clinical and laboratory team, the Northern Genetics Service, caring for the three million people of the North east and Cumbria. He became the first Professor of Clinical Genetics in 1991 and has over 250 peer reviewed publications. He became Director of the Institute of Human Genetics (IHG) from 2005-10 during which time the tenured academic staff rose to 33, 18 of them professors with an overall staff of approaching 200 and a 3rd place behind Oxford and Cambridge for Quality in the 2008 Research Assessment.

He conceived and helped bring to fruition the Millennium Landmark Centre for Life in Newcastle opened by the Queen in 2000. In addition to housing the IHG and the region’s Fertility and Genetics services, the Centre attracts a quarter of a million paying visitors to its science centre and provides practical science education to 40,000 schoolchildren per annum. From 2000-2005 he was a founder member of the Human Genetics Commission. From 2002-7 he was Public Orator for Newcastle University. Extensive media involvement includes being scientific advisor and participant in the BBC/Discovery series How to Build a Human in 2001.

In 2008 he was appointed chair of the newly created Clinical Genetics Specialty Group of the National Institute of Health Research. In 2009 he became Director of the national Collaborative Group on Genetics in Healthcare and Lead Clinician for the NHS in the North East of England. In 2010 he was appointed to chair the Innovation strand of the new UK Human Genomics Steering Group and became chair elect of the British Society for Human Genetics..


Organisation: European Bioinformatics Institute

Position: Associate Director

Graham Cameron, who is now the Associate Director of the EBI, joined EMBL in 1982 in the launch phase of the EMBL Data Library. In 1986 he took over the leadership of that project, overseeing substantial growth and the expansion into the provision of protein sequence data alongside the DNA data (a collaboration with the University of Geneva and latterly the Swiss Institute of Bioinformatics). He developed the concept for the EBI and was responsible for the final EBI proposal which was accepted by the EMBL Council in 1992. He oversaw the selection process which resulted in the creation of the EBI, managed its launch through 1993 to 1994, and oversaw the relocation of the Data Library activities from Heidelberg to the UK. Since the creation of the EBI in Hinxton he has carried oversight responsibility for its services, sharing the EBI Directorship with Michael Ashburner from 1998 to 2001. He has been the coordinator of more than half a dozen major European Commission funded projects which have raised substantial funding for the EBI and more than 20 other European partners.


Organisation: Human Genetics Society of Australasia

Position: President

Kevin Carpenter trained in Clinical Chemistry in Sheffield in the UK. He obtained an MSc from the University of Leeds and entered the field of inborn errors of metabolism at Sheffield Children’s Hospital in the mid 1980s. He completed a PhD with University of Sheffield in Hypoxanthine metabolism in the premature neonate in 1996. He has worked at the NSW Biochemical Genetics Service since 1994 and was appointed Head of Department in 2003. He has a particular interest in fatty acid oxidation defects and is a Conjoint Senior Lecturer with the University of Sydney and is currently President of the Human Genetics Society of Australasia.


Organisation: Galician Foundation of Genomic Medicine

Position: Director

Professor of Legal Medicine and Molecular Medicine (University of Santiago de Compostela)
Director of the Galician Foundation of Genomic Medicine (the largest public institution for clinical genetics in Spain (1997-present)
Director of the Institute of Legal Medicine (1994-present)
Director of the National Genotyping Center (2003-present) and the Galician NextGeneration Sequencing Center.

Angel Carracedo has carried out his professional and scientific work in Spain, pioneering the use of new technologies in forensic identification and creating a center where visiting scientists from all over the world are trained. In the most recent years he has extended his work to the field of molecular medicine and genome research where he has set up the most important center in Spain for the diagnosis of genetic diseases and with other colleagues from Barcelona and Madrid he has created the Spanish National Genotyping Center and the Galician Next Generation Sequencing center.

Over 400 papers in SCI journals including papers in Nature, Science, Nature Genetics in Cancer Genetics, Clinical Genetics, Pharmacogenomics and Forensic and population genetics.

He has published 10 books and over 400 papers in SCI journals, (see Carracedo A in PubMed), the majority in Clinical and Molecular Genetics, (Nature, Nature Genetics, Science, PNAS, Oncogene, Human Mutation, Human Molecular Genetics), Biochemical separation methods (Electrophoresis, Biotechniques, Clinical Chemistry), Human Population Genetics and Forensics (American Journal of Human Genetics, Gene, European Journal of Human Genetics, American Journal of Physical Anthropology, Human Heredity).

Regularly invited as a keynote speaker at meetings, workshops and symposia in virtually all European and North & South American countries, Mediterranean countries, Japan, Australia and other countries. Board member and external adviser of different national and international foundations.

Director of 70 Ph.D’s all with the highest qualification and 14 with University or National Awards.
Member of the board of the International Society for Forensic Genetics (, the foremost forensic body that coordinates all the scientists working in the field throughout the world from 1990 to 2007. President of this society in the period 1999-2003 and vice-president 2003-2007. Vice-president of the International Academy of Legal Medicine (board member since 1996), president of the Mediterranean Academy of Forensic Sciences and member of the board on numerous societies of Forensic Science and Genetics. Member of EDNAP (European DNA Profiling Group) and chairman of international standardization bodies (i.e. DNA Commission, Forensic DNA regulator-UK, National DNA Commission Spain)
Board member of national and international societies in genetics, cancer and forensic science. President of the Spanish Society for Pharmacogenetics and Pharmacogenomics. Past president of ISFG and MAFS. Vicepresident of the IALM. Representative of Spain in European Medicine Agency (Pharmacogenetics Working Group)

Editor of Forensic Science International (Genetics), associate editor of Forensic Science International and member of the editorial board of the majority of the international and national journals of Forensic Science and genetics.

Member of the Consulting Council-Ministry of Health
Member of the Galician Council for Culture
Prizes and distinctions: Jaime I Award (the most important scientific award in Spain), Adelaide Medal (the most important scientific award in Forensic Science), Galien Medal, Medal Castelao , Medal of Galicia, Medal to the Police merit, Galician Prize of Research, Award Galicians of the World (Xunta de Galicia), various prizes from foundations and scientific societies.
Doctor Honoris Causa for different universities in Europe and the Americas


Organisation: INSERM

Position: Head of the Molecular Genetics Department

Mireille CLAUSTRES, M.D., Ph.D., Professor,
Head of the Molecular Genetics Department
University Hospital of Montpellier (France)
Director of Inserm research unit 827

Pr. Claustres studied at three Universities of Montpellier: Faculty of arts (graduated in Psychology); Faculty of Medicine (M.D. and Full Professor); Faculty of Sciences (Master in Biochemistry and Ph.D.) then specialized since 1990 in molecular genetics for some single gene disorders. She is responsible for a Clinical Diagnostic Service (including prenatal and preimplantation genetic diagnosis), Teaching Medical Molecular Genetics and a Research Inserm unit entitled "Rare Disorders: Molecular Genetics, Functional studies and Locus specific databases". Her interests include the genetic basis of single gene disorders, aberrant splicing, genotype/phenotype relationships and Locus specific mutation databases. She has contributed over 223 peer reviewed publications and 50 others. She is also involved in Scientific Councils of Patients Associations Scientific Committees and The National Council of French Medical Universities.

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Organisation: The Human Variome Project

Position: Scientific Director

Richard Cotton AM BAgSc., Ph.D, D.Sc. (Melbourne) initiated the Mutation Research Centre, now renamed the Genomic Disorders Research Centre, in January, 1996 ( He has always been interested in the biochemical genetics of human disease and has recently focussed on mutation. Amongst his more notable scientific achievements are the conception, planning and execution of the fundamental experiment, which proved that when two immunoglobulin producing cells were fused, the immunoglobulin of both parental cells were produced in the hybrid. This laid the experimental and theoretical foundation for the widely used monoclonal antibody technique. He also conceived the widely used tetrohydrobiopterin (BH4) load test to identify the serious variants of PKU, but BH4 is currently being trialed in heart disease. He is particularly interested in improving mutation detection technologies to make them cheaper and simpler, so that they can be more widely applied, and holds several patents in the area. A recent development has been a method to detect DNA damaging compounds. He has written two books entitled "Mutation Detection", initiated in 1991 the journal entitled "Human Mutation", and in 1991 initiated bi-yearly international workshops on Mutation Detection and in 1998 bi-yearly HUGO Mutation Detection Courses. In 1996 he has also started a worldwide initiative (The HUGO Mutation Detection Database Initiative, recently formed into the Human Genome Variation Society (HGVS) website: to capture and distribute lists of mutations. In June 2005, he was admitted as a Member of the Order of Australia for service to science through genetic research, particularly through the development of technologies to detect gene mutations that underlie birth defects or cause disease and through efforts to document findings. In June 2006, he convened a Meeting, co-sponsored by WHO, which initiated the Human Variome Project ( This project aims to collect worldwide genetic variation and its associated phenotype affecting human health. He convened a HVP planning meeting in Spain in May 2008 ( and convened the third HVP “Implementation and Integration” meeting at the UNESCO headquarters in Paris in May 10-14, 2010 ( He is the author of over 300 scientific papers and 3 patents. He can be contacted at (Telephone) +61 3 8344 1893, Fax +61 3 9347 6842 and Email

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Organisation: Johns Hopkins University School of Medicine

Position: Professor of Pediatrics and Medicine and the Aetna/U.S. Healthcare Professor of Medical Genetics

Garry R. Cutting, MD

Dr. Garry Cutting is Professor of Pediatrics and Medicine and the Aetna/U.S. Healthcare Professor of Medical Genetics at Johns Hopkins University School of Medicine. He is the Director of the DNA Diagnostic Laboratory and Director of the Clinical Genetics Laboratory Training Program at Johns Hopkins University School of Medicine. Dr. Cutting received his undergraduate and medical degrees at the University of Connecticut. He completed both residency training in Pediatrics (1986) and a fellowship in Medical Genetics (1989) at Johns Hopkins and has remained at Hopkins for his entire professional career. Dr. Cutting’s primary research interest is in the molecular genetics of cystic fibrosis and more recently elucidating the factors underlying variation in the severity of cystic fibrosis. He is also the Director of the CFTR2 project, a worldwide collection of genotype and phenotype data on 40,000 patients with cystic fibrosis. Previous research achievements include the cloning and characterization of a new class of GABA receptor subunits (GABAc) and structure/function studies of voltage gated chloride channels. Dr. Cutting is the Co-Editor of the journal Human Mutation and Board member of the Federation of American Societies for Experimental Biology. He is the recipient of the Paul di Sant’Agnese Distinguished Scientific Achievement Award and a MERIT award from the NIH and has published over 150 peer-reviewed articles.

Organisation: Belgium Society of Human Genetics

Position: Board Member & Secretary

Professor Thomy de Ravel is a Clinical Geneticist at the Centre for Human Genetics at the University Hospitals of Leuven, Belgium. His field of interest has been the clinical application of molecular karyotyping in individuals with intellectual disability, dysmorphism and other related conditions.
Professor de Ravel received his M.D. from the University of the Witwatersrand in Johannesburg, South Africa, where he thereafter specialized in both Paediatrics and Child Health and Clinical Genetics. After 10 years as coordinator of the Clinical Genetics Services and also Head of the Cytogenetics laboratory, he moved to Leuven, Belgium. He read for his PhD, this relating to the development of molecular karyotyping and interpretation of findings. He is presently Clinical Geneticist and also Clinical Head of the Cytogenetics/ molecular karyotyping facilities at the Centre. His interest lies in the field of interpretation of the influence of a CNV in the expression of disorders, and also clinical genetics in general. He is Board member and the Secretary of the Belgium Society of Human Genetics, this being the Belgian HSV node, and also Board member of the Belgian Paediatric Society.


Organisation: National Genetics Reference Laboratory Manchester

Position: Director

Andrew Devereau completed an MSc in Computer Scientist from the University of Manchester, UK, in 2002 after working at the Natural Resources Institute of the University of Greenwich. He joined the newly-founded National Genetics Reference Laboratory (NGRL) at St Mary’s Hospital, Manchester, to work on Informatic and Bioinformatic projects to support the genetic testing laboratory and clinical genetic network in the UK. Projects have included the Diagnostic Mutation Database (DMuDB), a confidential database of genetic variants reported by UK laboratories, the Universal Browser, a graphical interface for variant databases, and SNPCheck, a pipeline tool for SNP masking PCR primers. He became the Head of Informatics in 2005 and was appointed Director of NGRL Manchester in 2008. Alongside the projects mentioned above, NGRL delivers bioinformatic and quality management training courses for UK laboratories, is collaborating to develop data standards for genetic laboratories and clinical centres, and is a partner in projects to develop rare disease coding (Rare Disease Task Force), variation database unification (Gen2Phen) and harmonisation of testing (EuroGentest2).

Organisation: The Vietnam National Hospital of Pediatrics

Position: Director of Departmen of Medical Genetics, Metabolism and Endocrinology

Dr. Vu Chi Dung is from The Vietnam National Hospital of Pediatrics in Hanoi, Vietnam and has extensive experience with Medical Genetics, Inherited Metabolic Disease and Molecular Pediatric Endocrinology. He is now Director of Department of Medical Genetics, Metabolism and Endocrinology and Deputy Head of Clinical Research’ Division in Research Institute for Child’ health of Vietnam National Hospital of Pediatrics. He is also working as a Honorary Associate in Sydney Medical School, Children’s Hospital at Westmead Clinical School, University of Sydney NSW, Australia from July 2010.

He is a main or co-author of many scientific papers and is in the Japanese Journal for inherited Metabolic Diseases, Molecular Therapy, Human Mutation, Human Molecular Genetics, Molecular Genetics and Metabolism, Journal of Inherited Metabolic Disease, Pediatric International and International Health. He was peadiatric resident in France for one year at Medical Genetic Center of the Hospital Pediatrics of St. Antony, Catholic University of Lille and was research fellow for 3 years at the Medical Genetics division, Department of Peadiatric, Saint Louis University, MO, USA. He was a fellow at Royal children’s Hospital, Melbourne in Aug. 2001 and Mar. 2005 and Jul - Aug. 2010. He has been awarded First prize of National Science Congress of young researchers of medicine faculties in Vietnam in 1998 and Vietnam Australia Research Project in 2004. He was awarded the Pfizer Overseas Fellowship according to outstanding presentation for the Japanese Society for Inherited Metabolism Diseases in 2004. 


Organisation: National Research Center (NRC), Cairo

Position: Head of Clinical Genetics Department

Prof. Dr. Mona El Ruby is a Professor of Human Genetics since 2003, Head of Clinical Genetics Department, National Research Center (NRC), Cairo,Egypt since 2007-tillpresent. Dr. Mona graduated from Faculty of Medicine, Cairo University, Egypt, and got her MD in 1975. She received her Master degree in Pediatrics in 1980 at Faculty of Medicine, Cairo University, Egypt. She received her PhD in Human Genetics from Faculty of Medicine, Alexandria University, Egypt in 1986. She joined the (NRC) in Egypt in 1977 under the supervision of Prof. Dr. Samia Temtamy Prof. of Human Genetics. Since then she is working extensively in the fields of Clinical Genetics and Cytogenetics. Her current research interests include: Clinical Syndrome Identification, Dysmorphology, CHD, Skeletal Dysplasia, Sexual Differentiation Disorders, and Detection of Mutations in rare Autosomal Recessive Disorders .She works also as Clinical Cytogeneticist. She is focusing on genotype-phenotype correlations in genetic diseases, and on genetic counseling. She is an author and co-author of more than 55 publications in national and international peer-reviewed medical journals. At present, she is the Principal and Co-Principal Investigator of 5 major projects: namely prevention and classification of genetic disorders, registry and database foundation for genetic diseases in Egypt, genetic studies in Disorders of sexual Development. Recently she is focusing on detection of gene mutations in Congenital Heart Disease (genotype-phenotype correlations), on Mental Retardation (syndromic and non syndromic) and on Clinical Molecular Cytogenetics. She is a member of several scientific genetic societies. She is a member of the International Scientific Advisory Committee of the HVP, 2010-till present.


Organisation: The Venezuelan Central University

Position: Honorary Professor (Clinical Genetics Unit)

Aída B Falcón de Vargas, RELAGH
(Venezuelan Society of Genetics)
Centro Clínico Profesional Caracas.
Anexo Hospital de Clínicas Caracas.
8º piso 802. Avenida Panteón, San Bernardino. Caracas, DF 1010 Venezuela.

Expertise: Clinical and Molecular Genetics; Cancer Genetics; Cytogenetics

Aída B. Falcón de Vargas, MD, PhD is a Honorary Professor (Clinical Genetics Unit) at the Venezuelan Central University. Dr. Vargas received her MD degree from the Venezuelan Central University, her PhD from the Institute of Child Health at the University of London. She did her residency at the Hospital Vargas de Caracas/ Vargas Medical School. Dr. Vargas expertise is Clinical and Molecular Genetics, Cancer Genetics and Cytogenetics. Dr. Vargas has served on several editorial boards including the Venezuelan Genetics Society Publications, Journal of The Venezuelan Medical Federation, the Journal Acta Científica Venezolana, The Venezuelan Society of Internal Medicine and the Journal of the Medical Faculty, Venezuelan Central University. Dr. Vargas is author and co-author in numerous publications.

Dr. Vargas is a member of several professional organizations including the Venezuelan Genetics Society (where she also served as President and Secretary General), the Hospital Vargas de Caracas Medical Society, Internal Medicine Venezuelan Society, ASOVAC Venezuelan Science Society, Latin-American Genetics Society, the International Genetics Association, Dermatoglyphics International Association, British Clinical Genetics Society, Clinical Pathology Venezuelan Society, European Genetics Society, Clinical Genetics Colombian Society, Latin American Genetic Association (RELAGH). Dr. Vargas is a fellow of the American College of Physician-American Society of Internal Medicine and corresponding member of the American College of Medical Genetics. 

Organisation: American College of Medical Genetics

Position: President

Wayne W. Grody, M.D., Ph.D. is a Professor in the Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics at the UCLA School of Medicine. He is the director of the Diagnostic Molecular Pathology Laboratory within the UCLA Medical Center, one of the first such facilities in the country to offer DNA-based tests for diagnosis of a wide variety of genetic, infectious, and neoplastic diseases, as well as bone marrow engraftment, patient specimen identification and paternity testing by DNA fingerprinting. He is also an attending physician in the Department of Pediatrics, specializing in the care of patients with or at risk for genetic disorders. In addition, he is heavily involved in basic molecular genetics research involving regulation of gene expression of arginase and related enzymes in hereditary arginase deficiency and various cancers, population molecular genetic screening, and construction of artificial human mutation samples. He has been one of the primary developers of quality assurance and ethical guidelines for DNA-based genetic testing for a number of governmental and professional agencies including the FDA, AMA, CAP, ACMG, ASHG, NCCLS/CLSI, CDC, AMP, and the NIH-DOE Human Genome Project (ELSI program). He served as a member of the NIH-DOE Task Force on Genetic Testing, and was the working group chair for development of national guidelines for cystic fibrosis and factor V-Leiden mutation screening. He has served for four years as chair of the Advisory Committee on Genomic Medicine for the entire VA healthcare system, and he is President of the American College of Medical Genetics. Recent awards include the Lifetime Achievement Award from the College of American Pathologists and the Ward Burdick Award for Distinguished Service to Clinical Pathology from the American Society for Clinical Pathology. As a sidelight, Dr. Grody has been active in the film and television industries for many years, first as film critic for MD Magazine, a national leisure journal for physicians, then as technical advisor and sometime writer for a number of feature films, TV movies, and television series including Life Goes On, Chicago Hope, CSI, Medium, Law and Order, Heroes, and both Nutty Professor movies. He did his undergraduate work at Johns Hopkins University, received his M.D. and Ph.D. at Baylor College of Medicine, and completed residency and fellowship training at UCLA. He is double board-certified by the American Board of Pathology (Anatomic and Clinical Pathology, Molecular Genetic Pathology) and the American Board of Medical Genetics (Clinical Genetics, Molecular Genetics, and Biochemical Genetics).

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Organisation: Cypriot Node

Position: Node Representative

Andreas Hadjisavvas, Ph.D.
Dept. EM/Molecular Pathology
The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
Adjunct Professor with the Brunel University of London

Andreas Hadjisavvas studied for his BSc. in Biochemistry and MSc. in Medical Biochemistry at Brunel University, London. Since 1994 he has been working in the Department of Electron Microscopy/Molecular Pathology of the Cyprus Institute of Neurology and Genetics (CING). He obtained his PhD in Cancer Genetics in 2002 (Brunel University). His research work has focused on studying various cancer syndromes in the Cypriot population. He was actively involved in establishing the Cancer Genetics Clinic at the CING and setting up diagnostic services in cancer genetics offered by the department. In addition, he is spearheading a number of association and validation studies on breast cancer in the Cypriot population. Andreas was a founding member of the Cyprus Society of Human Genetics and has served on its board of Directors since its establishment in 2003. He has been a member of the HGVS since 2003 and has actively participated in society annual meetings. Since 2005, he has been appointed and Chairs the bioethics evaluation committee responsible for biomedical research and clinical trials. He has also been appointed by the council of ministers to the National committee of “Environment and child Health”. 


Organisation: Academic Medical Centre of the University of Amsterdam

Position: Professor of Paediatrics and Translational Genetics

Raoul CM Hennekam received his MD degree and his specialty trainings in Paediatrics and a second one in Clinical Genetics at the State University of Utrecht, The Netherlands. He was appointed as professor of Paediatrics and Clinical Genetics in 2002 at the Academic Medical Centre of the University of Amsterdam. Between 2005 and 2010 he worked in London at the Institute of Child Health and Great Ormond Street Hospital for Children at the University College London as professor of Clinical Genetics and Dysmorphology. He is presently working as professor of Paediatrics and Translational Genetics in Amsterdam again, and as honorary professor of Clinical Genetics at the Institute of Neurology at University College London. His main scientific interests include mental disabilities, autism, connective tissue disorders, and (molecular) dysmorphology. He is member of the Dutch Health Council, European Editor of the American Journal of Medical Genetics, editor of the European Journal of Medical Genetics, member of the editorial board of 8 other medical journals, author of >350 papers in the international literature and of 12 chapters in international texts, co-chair of the international morphology nomenclature committee, and senior editor of the major text in Dysmorphology ‘Gorlin’s Syndromes of the Head and Neck’. 


Organisation: GEP Consulting, Inc.

Position: Founder and Principal

Founder and Principal
GEP Consulting, Inc.
317 Lamartine Street, Suite 200
Boston, MA 02130, USA

Carol Isaacson Barash, Ph.D. is an internationally recognized expert in personalized medicine, ethics and the integration of genomics and health into health care delivery. She works with private, public and academic institutions to provide ethics consultations, genetics educational programs for practitioners and consumers as well as to devise and help implement strategies to optimize clinical adoption of genetic/genomic advances. She
conducted pioneering work in genetic educations that resulted in innovative learning strategies based on identified barriers and drives in medical decision making. In addition, she is a lecturer on Personalized Medicine at Regis College, and previously been an adjunct professor of medical ethics at Boston University. Dr Barash serves as a Resource Expert of Bioethics Beyond Borders, member of the International Association for Ethics Education, a division of the Division of Ethics of
Society and Technology, Sector for Social and Human Sciences, UNESCO, member of the
World Council for Ethical Standards of Bio Ethics International, and an affiliate member of
the Society for Clinical Data Management, and Co-Chair of the Ethics Committee, and Cochair
of the Education Committee for the Human Variome Project, She has published over 30 scholarly articles in addition to her book Just Genes: The Ethics of Genetic Technologies, (Praeger/Greenwood, 2007). She has an extensive teaching background, having given many hospital grand rounds, and held adjunct Professor positions,
most recently at Boston University. She has held the role of Principal Investigator on three
federally funded education research grants, consultant to several other genetic services
research projects, and NIH Study section reviewer of small business innovative research
(SBIR) grants to commercialize new technologies; Bio-behavioral and Behavioral Processes IRG
and the Genetics Division of the Robert Wood Johnson Foundation. She is a frequent speaker at
industry and academic conferences around the world. She has taught medical ethics at
Boston University and will teach Personalized Medicine this spring at Regis College.
Prior to founding GEPCI, Dr. Barash directed the first federally funded study of genetic
discrimination, directed program evaluations and policy analyses at the US DHHS, Office of
the Inspector General, Office of Inspection & Analysis, and at the Center for the Study of
Drug Development and Regulation, Tufts New England Medical Center and served on the
Institutional Review Board (IRB) at the New England Deaconess Hospital.
She received her Ph.D. in philosophy from the University of Chicago/Boston College, and
her B.A. from Bates College/ Harris Manchester College, University of Oxford.

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Organisation: American Society of Human Genetics

Position: President

Dr. Lynn Jorde has been on the faculty of the University of Utah School of Medicine since 1979 and holds an H.A. and Edna Benning Presidential Endowed Chair in the Department of Human Genetics. He was appointed Chair of the Department of Human Genetics in September 2009. Dr. Jorde’s laboratory has been involved in studies of human genetic variation, mobile element evolution, the genetic basis of human limb malformations, and the genetics of common diseases such as hypertension, juvenile idiopathic arthritis, and inflammatory bowel disease. He has published more than 200 scientific articles on these and related subjects.
Dr. Jorde is the lead author of Medical Genetics, a textbook that is now in its 4th edition. He has received 12 teaching awards at the University of Utah School of Medicine, including the Outstanding Pre-Clinical Professor Awards from the graduating medical classes of 2002, 2003, 2004, and 2005; the Leonard W. Jarcho Distinguished Teaching Award in 2003; and the University of Utah Distinguished Teaching Award in 2006. He is the co-recipient (with Dr. Louisa Stark and Dr. John Carey) of the 2008 Award for Excellence in Education from the American Society of Human Genetics. He is currently President of the American Society of Human Genetics.
Dr. Jorde has served on several advisory panels for the National Science Foundation and the National Institutes of Health. He completed a 4-year term as a member of the Mammalian Genetics review panel at the National Institutes of Health and a 3-year term on the Board of Directors of the American Society of Human Genetics. He was a member of the Center for Inherited Disease Research Access Committee and currently serves on the 1000 Genomes Advisory Committee for the National Human Genome Research Institute. He is on the scientific advisory boards of the Burroughs Wellcome Foundation and the Institute for Systems Biology. He has served on the editorial boards of Human Biology, the American Journal of Human Biology, Gene, and the American Journal of Human Genetics. He has been an expert witness in a number of court cases involving DNA evidence.

Organisation: Orphanet

Position: Quality Assurance Manager

Mariana Jovanovic-Lassalle ( is currently the Quality Assurance manager for Orphanet (, the reference portal for information on rare diseases and orphan drugs. She was previously in charge of managing data on genes associated with rare diseases, and on diagnostic tests, including genetic testing, that is published on the Orphanet website. She holds a PhD in molecular biology.

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Organisation: Nutrigenomics Organization (NUGO)

Position: Member of Executive Committee NUGO

Jim Kaput joined the Nestle Institute of Health Sciences (Lausanne, Switzerland) as Head of the Clinical Translation Unit in August 2011. His most recent past position was at the FDA/National Center for Toxicological Research (Jefferson, AR) as Director of the Division of Personalized Nutrition and Medicine (DPNM), a post which he held from November 2007 through June 2011. He also has adjunct appointments in the Division of Genetics at the University of Arkansas for Medical Sciences and the Adinovo Center for Genetic & Genomic Medicine at Zheijing University (Hangzhou, China). Wiley and Sons published Nutritional Genomics: Discovering the Path to Personalized Nutrition (eds J Kaput and RL Rodriguez) in 2006 which has been translated into Chinese. As founder and sole contributor to NutriAlerts, he emails comments about research articles related to nutrigenomics, nutrition, epidemiology, statistics, health disparities, publich health issues, ethics, and health issues in transitional and developing economies to ~2500 subscribers in over 50 countries. The commentaries and abstracts are posted at the Nutrigenomics Organization website ( since Fall 2008. He a member of the executive committee of the newly formed Nutrigenomics Organization (formerly European Nutrigenomics Organization) and also is an active member of the Human Variome Project ( which seeks to seeks to analyze genetic variation in individuals linked to monogenic and polygenic diseases. Dr. Kaput received a Fulbright Senior Specialist grant in Global/Public Health for a two week visit to the State University of São Paulo, Brazil (October 2007).

Dr. Kaput received his PhD from Colorado State University in Biochemistry and Molecular Biology. He spent 5 years as a postdoctoral fellow and assistant professor at the Rockefeller University in the laboratory of GÜnter Blobel, the 1999 Nobel Laureate in Physiology and Medicine. Dr. Kaput was a staff and Biochemistry faculty member at the University of Illinois College of Medicine and Director of the Northwestern University Biotechnology Laboratory for 2 years. Dr. Kaput was in a series of biotechnology companies (some of which he founded and managed) from 1998 through 2007. 


Organisation: International Federation of Human Genetics Societies

Position: President - Elect

Dr Stephen Lam obtained his Bachelor of Medicine and Bachelor of Surgery degrees from the University of Hong Kong in 1976. Subsequently, he was trained in Paediatrics and Clinical Genetics in Queen Elizabeth Hospital, Hong Kong and Guy's Hospital, London. For his research on Biochemical Genetics and Cytogenetics, he was awarded Doctor of Medicine in 1988. He is now Fellow of Hong Kong College of Paediatricians, Fellow of Royal College of Physicians of Edinburgh, and Fellow of Hong Kong Academy of Medicine. He was awarded Master of Health Administration from the University of New South Wales in 1997. He was founding Chairman of the Hong Kong Society of Medical Genetics in 1987, and has served incessantly on the council of this society. His main clinical activities and research are in the diagnosis and prevention of genetic diseases and ethical, legal and social issues in genetics. He has published more than 100 articles and edited two books. His present position is Consultant Clinical Geneticist, Director of Genetic Laboratory and Head of Clinical Genetic Service, Department of Health, Hong Kong. He also serves on the Ethics Panel of the Hong Kong Family Planning Association and the Ethics Committee of the Council on Human Reproductive Technology in Hong Kong. He was a council member of the International Society for Neonatal Screening, and a serving committee member of the Chinese Genetics Society. He is currently the President of the Asia Pacific Society of Human Genetics and President of the International Federation of Human Genetic Societies. He serves as editor of several international journals including Clinical Genetics, HUGO Journal, and Journal of Community Genetics. Since 2008, he has been appointed Justice of the Peace by Hong Kong Government.

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Organisation: President

Position: Global Genes Foundation

Li Xitao graduated from Henan Medical College in 1976, and then has studied in Liaoning, China Medical University. Selected in 1991 by the National Academy of Traditional Chinese Medicine in China solely on "China's National Medical Master" academic professor Lu ZhiZheng, inheritance, and approved by the state officially became " Professor Lu ZhiZheng academic heir."

Edited 9 monographs published in scholarly, academic papers published more than 60 articles, 13 received major research awards, three patents by national intellectual property and the National Technology Award.

Has served in Henan Institute of Diabetes Medicine, Hospital Director and other staff. Now works in Beijing Chinese Medical Research Institute of natural medicine, professor, chief physician. Internationally renowned physician Association, UNESCO human variome projects permanent director and director in China. President of GLOBAL GENES FOUNDATION (GGF) and the director of THE UNION OF GLOBAL GENES APPLICATION ( UGGA).


Organisation: European Society of Human Genetics

Position: Vice-President

Professor Milan Macek Jr. MD, DSc is the chairman of the largest academic medical / molecular genetics institution in the Czech Republic, which also comprises a research / diagnostics reproductive genetics centre / He is also the Vice President of the European Society of Human Genetics (www.eshg,org), board member of the European Society for Human Reproduction and Embryology ( and of the European Cystic Fibrosis Society ( His institute is a "clearing centre" for dissemination of knowledge in genetics gathered within various international European projects, such as CF Thematic Network, EuroGentest, EuroCareCF or Techgene, to Central and Eastern Europe.
Prof. Macek did his first postdoc at the Institut of Human Genetics in Berlin, continued as a postdoctoral fellow at the McKusick-Nathans Centre for Genetic Medicine, Johns Hopkins University in Baltimore and during that time he was also a fellow at Harvard School of Medicine in Boston. He was the local host of the 1995 HUGO Mutation Detection Course in Brno, the 2005 European Society of Human Genetics conference and of the 2008 European Cystic Fibrosis Conference, both held in Prague.
Prof. Macek is national coordinator of Orphanet (, active member of Eurogentest (, has been the chief advisor of the Czech EU Council Presidency under which the “EU Council recommendation on an action in the field of rare diseases“was adopted in June 2009. This EU document also has a bearing on the provision of molecular genetic diagnostics of rare monogenic diseases in Europe and beyond. Prof. Macek also serves at the committee on rare diseases. He has been involved in 26 international grants, so far and is author-/coauthor on 67 international publications that have been cited more than 2100x and reached a mean impact factor of 9,77, with H-index of 23. 


Organisation: The Royal Melbourne Hospital

Position: Head, Colorectal Medicine and Genetics

Professor, Dept of Medicine, University of Medicine, The Royal Melbourne Hospital
Professor, Dept of Medicine, Monash University Dept of Medicine, Cabrini Medical Centre, Melbourne
Head, Inflammatory Bowel Disease Service, The Royal Melbourne Hospital

Secretary, International Society for Gastrointestinal Hereditary Tumours
Member, Steering Committee, NIH Colon Cancer Family Register
International vice chair, CAPP studies of chemoprevention.

Lifelong interest in screening and prevention of colorectal cancer, founded on postgraduate study and research at St Mark’s Hospital, London.
Currently active research portfolio in new methodologies of screening and endoscopic enhancement (MR colonography, capsule colonoscopy, confocal endomicroscopy), surveillance in high risk for colorectal cancer, modifier genes in Lynch Syndrome, clinical trials of primary prevention of colorectal cancer, microbiota profiles in IBD and indigenous Australians, and HALO RFA in Barrett’s dysplasia, and the Human Variome Project - annotating all variation in the human genome.

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Organisation: International Federation of Human Genetics Societies & Tohoku University School of Medicine

Position: President of International Federation of Human Genetics Societies

President of International Federation of Human Genetics Societies

Professor of Medical Genetics at Tohoku University School of Medicine, Sendai, Japan

Dr. Yoichi Matsubara is President of International Federation of Human Genetics Societies (IFHGS) and Professor of Medical Genetics at Tohoku University School of Medicine, Sendai, Japan. He received his MD at Tohoku University School of Medicine in 1979, completed pediatric training at Kanagawa Children’s Medical Center and Tohoku University Hospital and postdoctoral fellowship in human genetics at Yale University School of Medicine. Dr. Matsubara’s research has been directed toward understanding the molecular pathogenesis and establishment of molecular diagnosis of various genetic disorders, ranging from inherited metabolic disorders to congenital malformation syndromes. His recent research interest is in the molecular genetics of Ras/MAPK pathway syndromes (Rasopathies). He is an executive board member of Japan Society of Human Genetics, Japanese Society of Inherited Metabolic Disease, Japanese Society for Gene Diagnosis and Therapy, and Japanese Society for Mass-screening and an editorial board member of Molecular Genetics and Metabolism, Journal of Human Genetics and Pediatrics International. He is the recipient of the Society Award of Japanese Society of Inherited Metabolic Disease and Encouragement Award of Japan Society of Human Genetics and has published over 140 peer-reviewed articles. He served as a member of National Committee for Medical Genetics at Science Council of Japan and Chairman of Committee for Japanese Board of Clinical Genetics, of which he was a founder member.


Organisation: University of Patras, Greece

Position: Assistant Professor of Pharmacogenomics

Title of PresnetationTBA

George Patrinos obtained his PhD in Molecular Biology and Genetics from the University of Athens (Greece). He currently serves as Associate Professor of Pharmacogenomics and Pharmaceutical Biotechnology in the University of Patras (Greece), Department of Pharmacy and holds adjunct Professorships at Erasmus MC, Faculty of Medicine, Rottetrdam (the Netherlands) and the United Arab Emirates UNiversity, College of Medicine, Al-Ain (UAE). Also, he is Greece’s National representative in the CHMP Pharmacogenomics working party of the European Medicines Agency (EMA, London, UK), member of the International Rare Disease Research Consortium (IRDiRC) and Scientific Director of the Golden Helix Foundation (London, UK), an international non-profit research organization in the field of Genomic Medicine.

His research interests involve pharmacogenomics for hemoglobinopathies and neuropsychiatric disorders, genomics of rare disorders, transcriptional regulation of human fetal globin genes and genotype-phenotype correlation in human genetic disorders. His group is also internationally recognized for its involvement in developing National/Ethnic Genetic databases to document the genetic heterogeneity in different poulations worldwide, while he also has a keen interest in public health genomics to critically assess the impact of genomics to society and public health.

George Patrinos has more than 190 publications in peer-reviewed scientific journals and textbooks, some of them in leading scientific journals, such as Nature Genetics, Nature Rev Genet, Nucleic Acids Res, Genes Dev, and he is the Editor of the textbook “Molecular Diagnostics”, published by Academic Press, now in its 3rd edition. Furthermore, he serves as Associate Editor and member of the editorial board of several scientific journals, he has been a member of several international boards and advisory and evaluation committees and he is the main organizer of the Golden Helix Conferences, an international meeting series on Pharmacogenomics and Genomic Medicine. He has given numerous keynote and plenary lectures in international conferences as invited speaker and his research projects received funding from national and international funding agencies. 

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Organisation: HVP Ethics Committee

Position: Working Group Leader

Sue Povey MD FMed Sci Emeritus Professor of Human Genetics at UCL, London UK After obtaining a degree in Natural Sciences (genetics ) in Cambridge in 1964 Sue Povey qualified in medicine in 1967 . She spent two years in clinical practice, one of them in Algeria with the Save the Children Fund, before becoming a scientist at the MRC Human Biochemical Genetics Unit at UCL from 1970 until 2000. She then became Haldane Professor of Human Genetics at UCL retiring in December 2007.  Most of her research has been on genetic variation ,finding genes and building genetic maps for the human genome, although in the ten years between 1997 and 2007 she was also responsible for the official names for all human genes. Until 2009 her only published contribution to ethical issues was to be one of the authors of the MRC operational and ethical guidelines for the handling of Human Tissues and Biological samples for Research (2001). A major longterm interest has been in the genetic disorder Tuberous Sclerosis for which she now maintains two variation databases, one for each gene involved. This led eventually to her leading a working group associated with the Human Variome Project in the effort to produce practical ethical guidelines for the curators of such databases.

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Organisation: Department of Biochemistry and Genetics, INSERM U771, Angers University, France

Position: Professor of Medical Genetics

Vincent Procaccio, M.D., Ph.D., Professor of Medical Genetics, Department of Biochemistry and Genetics, INSERM U771, Angers University, France.

Pr. Procaccio’s major research focus is investigation of mitochondrial function and implications for human disease with special emphasis on the genetics and role of mitochondrial defects in stroke and vascular disease.

He is one of the main curators of Mitomap database. Mitomap is a comprehensive database of human mitochondrial DNA variation and its relation to human evolution and disease, used worldwide by both clinical and research laboratories. With Doug Wallace, he has been involved in designing new tools such as Mitomaster to enable a more powerful data integration and analysis system of the mitochondrial genome. His mitochondrial center is also maintaining the eOPA1 database, a nuclear-encoded mitochondrial gene responsible for autosomal dominant optic atrophy.

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Organisation: Center for Genetic & Genomic Medicine

Position: Professor and founding Director

Ming Qi, PhD, FACMG
Professor and founding Director
Center for Genetic & Genomic Medicine
Zhejiang University Medical School First Affiliated Hospital, China
Chief Scientist, Department of Healthcare
BGI-Shenzhen, China
Associate Professor
Department of Pathology and Lab Med
University of Rochester Medical School, USA

Dr. Qi received his BS from South China Normal University in 1982, and MS from Fudan University, Shanghai in 1985 mentored by Dr. C.C. Tan, the “Father of Genetics at China”. He was successful in the national competition to be a student of the CUSBEA (China-USA Biochemistry / Molecular Biology) Program and received his PhD from University of Pittsburgh in 1991. Dr. Qi did his postdoctoral training in Dr. Stan McKnight’s Lab, University of Washington from 1991-1994. Dr. Qi had his ABMG postdoctoral fellowship in Molecular Genetics with Dr. Peter Byers at University of Washington from 1994-1998 and was certified in clinical molecular genetics by American Board of Medical Genetics in 1999. He is a Fellow of American College of Medical Genetics. He joined the faculty of University of Rochester Medical School in 1998 as a tenure tract assistant professor. Dr. Qi had serve as a consultant of Harvard Medical School-Partner Center for Genetics and Genomics and Visiting Geneticist (acting co-director) of the Laboratory of Molecular Medicine in 2006. Dr. Qi has about 50 peer-reviewed publications including PNAS, Cell, Human Mol Genetics, JAMA, Circulation, Am J Med Genet, Human Mutation, etc. He is the chief advisor of Chinese National Gene Health Committee, and the coordinator of the international Human Variome Project Chinese Consortium. He is editorial board members of several international journals including Human Mutation, and ANE. He also serves as a reviewer for a number of international journals.

Organisation: African Society for Human Genetics

Position: Executive Board

Raj Ramesar is Professor and Head of the Division of Human Genetics at the University of Cape Town and its Allied Hospitals in South Africa. This facility has wide-ranging clinical responsibilities from the quaternary and tertiary care levels, to extensive rural outreach programmes, in addition to diagnostic and research capabilities. His interest is in using the exciting developments in the field of genomic sciences to investigate human biodiversity. Africa offers the opportunity to use population lineages in all of their richness towards identifying aspects of human biology, that have to do with both health and disease.

As the Director of the MRC Human Genetics Research Unit, the emphasis of his research has been on disease susceptibility in South African populations, progressing from the commonly recognised inherited diseases, to those that are more complex yet more common and relevant to a large burden of disease. In this regard, his most recent research enterprise is embodied in a large scale project entitled: ‘Human Diversity and Health’. As Director of the national Colorectal Cancer Research Consortium his focus has been on the genetics of familial colorectal cancers, and the most effective translation of laboratory findings to the field for optimum benefit of patients and their kin. In this regard Raj recently received the (Vice Chancellor’s) Alan Pifer Award for ‘outstanding research in cancer genetics which shows relevance to the advancement of South Africa’s disadvantaged populations’. His most recent research involves whole exomic and whole genome sequencing for disorders seen in South Africa, as well as investigating responses to drugs in Southern African populations. Apart from being on the editorial board of several international journals, Raj serves on the Executive of the African Society for Human Genetics, and is its Liaison Officer to the International Federation of Human Genetics Societies. As Chair of the Local Organising Committee, he recently organised the Joint Conference of the African and Southern African Societies in Cape Town ( Raj also led a successful bid to host the International Congress of Human Genetics in Cape Town in 2021. He serves on several international advisory panels pertaining to genomic research, including that for :Human Heredity and Health: Africa (or H3Africa). He is married to Jenny, who is an academic in the Faculty of Health Sciences at UCT, and they have two sons (19y and 17y) and a daughter (14y).

Organisation: Spanish Society of Human Genetics

Position: President

1983: M.D. Degree at the University of Extremadura Medical School in
Badajoz (Spain)
1984-1988: Resident of Pediatrics. University Hospital, Zaragoza, Spain.
1985: National Price of Pediatric Investigation
1988: Ph.D. in Genetics at the University of Zaragoza Medical School,
Zaragoza, Spain
1990-1992: Fulbright Schoolarship. Postdoctoral Fellow. The Children´s
Hospital of Philadelphia, Philadelphia, USA
1993-1996: Assistant Professor of Pediatrics. University of Zaragoza Medical School, Zaragoza, Spain
1996-2006: Full Professor of Pediatrics. University of Zaragoza Medical School, Zaragoza, Spain
1998-present: Principal Investigator of several research projects funded by Spain´s Ministry of Health
2004-present: Member of the Advisory Board of the National Fragile X
Foundation (USA)
2005-present: President of the Spanish Society of Human Genetics
2006-present: Chair Professor of Pediatrics, University of Zaragoza Medical
School, Zaragoza, Spain
2008-present: Member of the Experts Committee of the Spain´s National
Strategy for Rare Diseases
2010-present: Coordinator of the Spain´s National Reference Center for
Cornelia de Lange Syndrome
2011: Elected member of the Royal Academy of Medicine of Zaragoza

Author of more than 90 papers, half in SCI journals such as Nature Genetics, American Journal of Human Genetics, Human Molecular Genetics, Journal of Medical Genetics or American Journal of Medical Genetics.
Author of more than 40 chapters in Pediatrics and Genetics books

Member of the American Society of Human Genetics (ASHG) and the European Society of Human Genetics (ESHG)

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Organisation: Cedars-Sinai Medical Center

Position: Steven Spielberg Chair and Distinguished Professor of Pediatrics and Director of the Medical Genetics Institute

David L. Rimoin, MD.PhD.

Dr. David L. Rimoin is the Steven Spielberg Chair and Distinguished Professor of Pediatrics and Director of the Medical Genetics Institute at Cedars-Sinai Medical Center and Professor of Pediatrics, Medicine and Human Genetics and Director of the UCLA Intercampus Medical Genetics Training Program at the David Geffen School of Medicine at UCLA. He received his MD and MSc in Genetics at McGill University, his PhD in Human Genetics at Johns Hopkins University and trained in internal medicine at the Royal Victoria Hospital in Montreal and the Johns Hopkins Hospital. He was the Founding President of the American Board of Medical Genetics and the American College of Medical Genetics, as well as the President of the American Society of Human Genetics, American College of Medical Genetics Foundation, the Western Society for Pediatric Research and the Western Society for Clinical Investigation. He has published over 410 research papers in peer reviewed journals and edited 11 books, including Emery and Rimoin’s Principles and Practice of Medical Genetics, now in its fifth edition. Dr Rimoin’s research has been directed toward understanding the basic mechanisms and clinical management of numerous genetic disorders, including the genetics of common diseases, genetic disorders of the endocrine glands and the genetics of connective tissue and skeletal disorders. He has been elected to the Johns Hopkins Society of Scholars and the Institute of Medicine and was the recipient of the Ross Outstanding Young Investigator Award from the Western Society of Pediatric Research, The Mead Johnson Award for Research in Pediatrics from the American Academy of Pediatrics, the Colonel Harland Saunders Award for Research in Genetics from the March of Dimes, the Pioneer of Medicine Award from Cedars-Sinai Medical Center, the UCLA Medical Alumni Association’s Award for Extraordinary Merit, the first ever “Leadership Award’ from the American Society of Human Genetics and named a “Legend of the Los Angeles Biomedical Institute.” He recently received the “Lifetime Achievement Award” of the American College of Medical Genetics and was awarded the “Distinguished Alumnus Award” from Johns Hopkins University and the Mayo Soley Award from the Western Society for Clinical Investigation. 


Organisation: Institute of Medical Genetics and Human Genetics of the Charité - Universitätsmedizin Berlin

Position: Research Leader

Peter Robinson studied Mathematics and Computer Science at Columbia University in New York and obtaines an MD at the University of Pennsylvania in Philadelphia, PA. During his training as a Pediatrician at the Charité - Universitätsmedizin Berlin, Dr Robinson became interested in molecular genetics research and bioinformatics. Currently, Dr Robinson leads a research group at the Institute of Medical Genetics and Human Genetics of the Charité - Universitätsmedizin Berlin. Highlights in recent years have included the development of a novel treatment strategy for Marfan syndrome in mice based on antagonism of a class of bioactive motivs that are common in fragments of elastin and fibrillin-1, the identification of novel disease genes for a form of ataxia (CA8) and hyperphosphatasia with mental retardation syndrome (PIGV). Dr Robinson's computational group has developed the Human Phenotype Ontology (HPO), as well as a number of algorithms for disease gene prediction and next-generation sequencing data. A major current focus lies in the development of algorithms for using phenotype and genotype information for diagnostics and computational biology.

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Organisation: Latin American Network of Human Genetics (RELAGH)

Position: President

Dr. Rojas-Martínez is the current president of the Latin American Network of Human Genetics (RELAGH). He has formal training in Medical
Genetics and developed his doctoral training in Molecular Biology. His main areas of interest are cancer genetics/genomics and gene & cell

Dr. Rojas-Martínez has been involved in the Mexican Association of Human Genetics since 2000 and served as president of this association
during 2007-2009. He also has participated as member of the Scientific Committee of the Latin American School of Human Genetics since 2007 to
date. The RELAGH Board under his presidency will organize the Third Latin American Congress of Human and Medical Genetics in November


Organisation: Tribhuvan University, Nepal

Position: Associate Professor of Zoology and Molecular Biology

Dr. Tilak R. Shrestha has been an Associate Professor of Zoology and Molecular Biology at Tribhuvan University, Nepal since 1983. He did MS in Molecular Biology from Belgium and pre-doctoral researches from Germany and Belgium. He received PhD degree in transgenesis from Center for Cellular and Molecular Biology (CCMB), Hyderabad, India under the Jawaharlal Nehru University (JNU). He has been a UNU fellow (Guatemala/Japan), UNESCO fellow (Switzerland and Pakistan), DAAD fellow (Germany), VUBAROUS fellow (Belgium), TWAS-CSIR fellow (Italy/India), FAOBMB fellow (Melbourne and India), and CISSM fellow (Univ. of Maryland, USA), Member of Science Advisory Board (SAB), USA and Chulavorn Research Institute fellow (Thailand). Dr. Shrestha is a founder General Secretary of Nepal Molecular Biology Society (since 1995) and has been a delegate of FAOBMB till date. He successfully got IUBMB membership for Nepal society. He is a member of ApBionet, Human Genome Organization (HUGO) and country representative of Human Variome Project (from HVP, Melbourne, Australia). He worked on mutational research in Alzheimerís Disease in Belgium and now an initiator of mutational research of human disease in Nepal. He has significantly contributed in the foundation and popularization of Molecular Biology and Genetic Engineering in Nepal since 1988. He is credited to 12 publications in national and international journal and three manuscripts under preparation. Presently he is concentrated to establish research in human genetic link, human variome and mutational research leading to the Genome Foundation in Nepal.


Organisation: University Medical Center Groningen, the Netherlands

Position: Associate Professor of Clinical Oncogenetics

Rolf Sijmons has worked as a clinical geneticist in the field of oncogenetics for more than 20 years. He is Associate Professor of Clinical Oncogenetics at the University Medical Center Groningen, the Netherlands ( <> ), and leads the familial cancer clinic at his department. His research interests mainly focus on the genetics of colorectal cancer, the clinical interpretation of unclassified gene variants ( <> ), the clinical use of nextgen sequencing techniques, and methods to share genotype-phenotype data world wide though public databases. He is member of several international committees in these fields and is editor of the familial cancer database ( <> ). 


Organisation: Human Variome Project International Ltd

Position: Communications Officer

Timothy D. Smith is the Communications Officer for Human Variome Project International Ltd., the Coordinating Office for the Human Variome Project. He studied biochemistry and molecular biology at the University of Melbourne before starting his PhD which looks at how the process of genetic variation database curation is conducted and investigates novel methods for supporting that process through the application of different technologies. He is the author of the VariVis software program for genetic data visualisation.

Timothy is also the Laboratory Liaison Officer for the Human Variome Project Australian Node, a project led by the Genomic Disorders Research Centre at the Florey Neurosciences Institutes to provide a mechanism for diagnostic labs and clinicians to share information on genetic variations discovered in Australian patients.

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Organisation: Galician Public Foundation of Genomic Medicine

Position: Neurogenetics Group Leader

Dr. María-Jesús Sobrido is a Neurologist and phD in Molecular Genetics. After a postdoctoral period and Neurogenetics Fellowship at UCLA, Dr. Sobrido obtained a Miguel Servet Contract from the Institute of Health Carlos III for the incorporation of senior researchers in the Spanish National Health System. She currently leads the Neurogenetics Group in the Galician Public Foundation of Genomic Medicine (FPGMX), an institution directed by Prof. Ángel Carracedo within the University Clinical Hospital of Santiago de Compostela. The main interest of her group is the study of the genes, mutations and molecular mechanisms underlying neurodegenerative disorders, especially spinocerebellar ataxias, spastic paraparesis and other movement disorders. The group has tight links with clinical and genetic diagnosis in Neurology, and thus is also devoted to applying emergent technologies for the improvement of diagnostic algorithms in Neurogenetics. The FPGMX has strong genomic capabilities and next generation platforms, which the group is currently applying to study genetically heterogeneous neurological conditions. Much of Dr. Sobrido´s research has a translational component for genetic diagnosis and counselling. The group has started a mutation database on Cerebrotendinous Xanthomatosis and is involved with national and international consortia aimed at the development of variant databases for neurological traits. In this line, collaborations with computer engineering and bioinformatics researchers have led to some work to contribute to the development of phenotype ontologies for neurogenetic disorders. Dr. Sobrido´s group belongs to the CIBERER, a Spanish network centre for research on rare diseases. Her research team is also pursuing some studies into the genetic predisposition to complex neurological diseases (Parkinson´s disease, migraine), as well as pharmacogenetics in Neurology. Dr. Sobrido is a member of the Spanish Association of Human Genetics, as well as to the Spanish Society of Neurology, where she has been the coordinator of the Neurogenetics study group. She is one of the founder and board members of the Spanish Neurogenetics Association created in 2011 and has been actively contributing to the establishment of a Neurogenetics forum within the Human Variome Project.

Organisation: The Johns Hopkins University (JHU)

Position: WayStation Project Manager

Conover Talbot Jr. conducted human genetics research at The Johns Hopkins University (JHU) before shifting from bench research to curation of the Genome Database project, developing the database and representing it to the community. Since then he has served as editor of the HUGO Gene Nomenclature Committee (HGNC), and analyzed gene expression and variation first with JHU’s Institute of Genetic Medicine and now in the Institute for Basic Biomedical Sciences. Projects have included developing internal databases and cross-organism mapping of transcription and linkage probes, annotation and bioinformatic resources. Current concentrations include assembling tools for ‘next-generation’ sequencing, un-translated and/or alternative transcripts, and functional analyses addressing malignancy/metastasis, hypothermic circulatory arrest, and cardiac disorders.

A founding member of the Human Genome Variation Society he has served on the Council since its beginning, managing the HGVS LSDB List project and the WayStation websites and representing them to the Human Variome Project. He serves as HGVS liaison to Wiley-Blackwell, publisher of the Society journal. 

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Organisation: Center for Human & Clinical Genetics, Leiden University Medical Center, LEIDEN, Nederland

Position: Head Leiden Open Variation Database package (LOVD) & Mutalyser sequence nomenclature checker

Peter E.M. Taschner

Center for Human & Clinical Genetics, Leiden University Medical Center, LEIDEN, Nederland.
Peter Taschner studied biology and biochemistry at Leiden University. He received his PhD in Molecular Cytology from the University of Amsterdam (Nederland). After a post-doctoral position in the Department of Biochemistry at Leiden University, he moved to the Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, Nederland. He has been involved in the identification of the genes for juvenile neuronal ceroid lipofuscinosis (CLN3) and hereditary paraganglioma (SDHD). He has developed worm and mouse models to study the molecular basis of these disorders and is one of the curators of the TCA cycle gene mutation database. As a staff scientist he heads the group developing the next version of the Leiden Open Variation Database package LOVD ( and the Mutalyzer sequence variation nomenclature checker ( 

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Organisation: The University of Melbourne

Position: Herman Professor of Genomic Medicine, Department of Pathology

Professor Graham R Taylor PhD, FRCPath

Following a postodoc MRC Clinical Research Centre he joined the University Department of Haematology in Manchester in 1988 and developed a PCR method to detect HIV infection in haemophilia. In 1989 he established the regional molecular genetics service based in Leeds. In this setting he developed and published the first use of microsatellites for genetic diagnosis, the first report of genetic diagnosis from foetal necropsy material, the first use of automated fluorescent fragment analysis for genetic diagnosis and numerous other initiatives in the area of molecular genetics and pathology. He led the pilot project and is current member of steering group for UK diagnostic mutation database DMuDB.

In 2006 led the Department of Health Funded project “New genetic diagnostic technologies for consanguineous families at risk of recessive genetic disease” and became Head of Genomic Services for Cancer Research UK, chairing the advisory committee for genome wide association (GWA) studies. He also led a review of CR-UK bioinformatics demand and capacity and an evaluation of Next Generation Sequencing (NGS) technology.

In 2009 he joined the Leeds Teaching Hospitals and Leeds University as Professorial Head of the Genomics Translation Unit. The Unit was instrumental in establishing the Leeds Genetics Service as the leading provider of genetic diagnosis using NGS. As of July 2012 over 60% of all UK NHS diagnostic reports were from this laboratory.

In 2012 he joined the Department of Pathology at Melbourne University as the Herman Professor of Genomic Medicine and Director of the Australian node of the Human Variome Project. Current interests are the development of diagnostic applications and data pipelines for Next Generation Sequencing (NGS), including the targeted re-sequencing for the diagnosis of genetic disease, the use of NGS is tumour profiling for stratified medicine and the development of secure means data sharing.

Professional Membership and Advisory Board Membership:

Fellow of The Royal College of Pathologists
Examiner for The Royal College of Pathologists
External Examiner for King's College London School of Medicine
Course co-ordinator of the HUGO Mutation Detection Training Courses
Honorary Member of the NIHR Faculty (UK National Institute of Health Research).
Scientific Advisor for the CRUK Stratified Medicine Project
Former President of the Human Genome Variation Society
Former Chair of the UK Clinical Molecular Genetics Society
Former Secretary of the British Society for Human Genetics
Member of Caddy Committee for the review of low copy DNA testing for forensic testing (Caddy Report, Home Office, 2008)



Organisation: Institute of Biomedical Technology, University of Tampere, Finland and BioMediTech, Tampere, Finland

Position: Professor of Bioinformatics

Mauno Vihinen, Institute of Biomedical Technology, University of Tampere, Finland and BioMediTech, Tampere, Finland. Founding member of HGVS. HVP Interim Scientific Advisory Committee member.

Prof. Vihinen has been involved on mutation and variation research  for over 15 years. The research interest is to understand mechanisms of disease-related variations at different levels (DNA/RNA/protein, structure/function/interaction/etc). The group has analysed effects of very large numbers of variations. For these studies, and as a service for the worldwide community, we do maintain about 140 locus-specific variation databases with over 10,000 patient cases for primary immunodeficiencies. In addition to the immunodeficiencies, we curate registries also for protein kinase domain and Src homology 2 (Src2) domain variations. The team has applied and developed bioinformatic tools for predicting which variants are pathogenic and which are benign. Disease-associated variations are further investigated to find out likely mechanisms behind the disease. The latest achievements in variation field include development of Variation Ontology (VariO) for systematic description and annotation of variation effects, and development of an integrated prediction tool called Pathogenic-Or-Not -Pipeline available at


Organisation: State University of New York Health Sciences Center, Brooklyn, New York, USA

Position: Professor of Surgery, Chief of Surgery, VA Brooklyn Medical Center. Director, Colorectal Cancer Genomics Program

Thomas Weber, MD is Professor of Surgery at the State University of New York (SUNY) Health Sciences Center in Brooklyn, New York and Chief of Surgery at the Department of Veterans Affairs New York Harbor Healthcare System, Brooklyn Campus. He is a recent member of the Board of Governors of the American College of Surgeons and served as Chair of the Scientific Program Committee for the 2011 Society of Surgical Oncology Annual Meeting. He is a former American Cancer Society Research Scholar and NIH funded scientific investigator.

Dr. Weber is the current Chair of the National Colorectal Cancer Round Table ( in Washington DC which is sponsored by the Centers for Disease Control and the American Cancer Society. Dr. Weber is also Co-Chair of the NYC Health Department sponsored City Wide Colorectal Cancer Control Coalition (“C5”). He is a recent past President of the Collaborative Group of the Americas for the study of Hereditary Colorectal Cancer ( and member of InSiGHT (International Society for the Study of Hereditary Gastrointestinal Tumors He has published extensively on hereditary colorectal cancer and is a frequent invited speaker on that subject at national and international meetings.

Dr. Weber is the Site Director for the SUNY Downstate Department of Surgery Residency Program at the Brooklyn VA. He also directs the SUNY Surgical Research Unit at the Brooklyn VA and is the Principal Investigator of The VA New York Harbor Colorectal Cancer Genomics Pilot Project in collaboration with the VA Genomic Medicine Program. He is also a member of the International Mismatch Repair Gene Consortium (IMRC) and a co-investigator on the recently submitted IMRC Mismatch Repair Gene Penetrance study, an NIH RO1 proposal.

Dr. Weber is the Founder and President of the Colon Cancer Challenge Foundation ( a 501c3 Public Charity dedicated to a “world without colorectal cancer”. The Foundation organizes the annual Colon Cancer Challenge held in Central Park in conjunction with New York Road Runners. The “Challenge” is the nation’s largest public colorectal cancer awareness event. This year’s event held in March 2011 attracted approximately 10,000 participants from 46 states and 3 continents and raised over $400,000 to promote colorectal cancer awareness and support research, screening and prevention. 

Organisation: mutaBASE

Position: Founder & Director

Patrick Willems received his MD from the University of Antwerp in Belgium. He was trained in Pediatrics at the University of Groningen in The Netherlands (Prof John Fernandes), and Molecular Genetics at the University of San Diego (Prof John O’ Brien). From 1987 to 2000 he worked at the University of Antwerp where he was Professor of Medical Genetics. For more than 10 years he was responsible for the diagnostic DNA laboratory, and head of the research activities. Dr. Willems was involved in the localisation and isolation of several disease genes involved in mental retardation, deafness and cancer. He is the author of more than 250 peer-reviewed scientific papers in international journals, including many papers in top scientific journals such as Cell, Nature Genetics, and the New England Journal of Medicine.
Dr. Willems is founder and director of GENDIA, a network of diagnostic genetic labs ( that aimes to facilitate diagnostics for rare genetic disorders. He is also the founder and director of MutaBASE (, a private company that developed and markets MutaREPORTER, a software program for variant assessment and automated database submission. Dr. Willems is also Principal Investigator of the MutaDATABASE project, an international project aiming to create a universal database of genetic variants ( 

Organisation: Medical University, Innsbruck, Austria

Position: Head of the molecular diagnostic laboratory

Martina Witsch-Baumgartner Heads the molecular diagnostic laboratory at the Medical University in Innsbruck, Austria. We are regarding a large spectrum of inherited diseases performing nearly 100 different gene analyses by Real-time-PCR, TP-PCR, DNA and RNA sequencing, MLPA, and Southern Blot analysis. Hence we recognize the importance of sharing genetic data. The professional expertise I acquired by university degree in Biology and Human/Medical Genetics in courses at the Universities of Paris XII (France), T¸bingen (Germany), and Innsbruck (Austria). I performed Master thesis in the Cytogenetic lab of Prof. Bernard Dutrillaux at the Institute Curie in Paris (France), the Doctoral Thesis was developed in Biochemistry at the lab of Prof. Manfred Schweiger in Innsbruck (Austria). As postdoc I worked at the Institute Gaslini with Prof. Giovanni Romeo in Genoa (Italy). Professional development continued in Innsbruck (Austria) at the Childrenís Hospital and the Institute of Medical/Human Genetics. Here I specialized in Human Molecular Genetics.
In order to understand contexts in Medical Genetics in my opinion it is most important to acquire a profound education that encompasses medical aspects plus knowledge in molecular biology and biochemistry. This is true for medical doctors as well as for scientists construing the molecular data that are obtained by rapidly evolving sophisticated methods.

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Organisation: Beijing Genomics Institute

Position: Founder

Professor Huanming Yang
BGI, China

Professor Yan earned his Ph.D. from Copenhagen University in 1988, and received his postdoctoral trainings in France (1988-1990) and USA (1990-1994). He returned to China in 1994 and founded Beijing Genomics Institute (BGI) in 1999. BGI now is ranked the third biggest center. BGI had made a significant contribution to sequencing genomes of human, rice, chicken, silkworm and many microorganisms. BGI published the first Asian’s genome by using new-generation sequencer in Nature, Nov 6, 2009. Prof Yang is a former member of committees or consultant groups of genetics and bioethics for UNESCO, WHO and UN High Commission for Human Rights. He presently is the official representative of PR China in the Intergovernmental Bioethics Committee (IGBC), UNESCO, and co-vice chairman of EAGLES (European Actions on Global Life Sciences). Prof Yang has received many awards and honors, including Research Leader of the Year by Scientific American in 2002 and Award in Biology by the Third World Academy of Sciences (TWAS) in 2006. He was elected as a foreign member of EMBO in 2006, an Academician of Chinese Academy of Sciences in 2007, and a fellow of TWAS in 2008. 


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