Sharing data :: Reducing disease
The Human Variome Project
An NGO maintaining operational relations with the United Nations Educational, Scientific and Cultural Organisation (UNESCO).
Human Variome Project provides support services to the international coordination work of the Human Variome Project; an international non-governmental organisation that is working to ensure that all information on genetic variation and its effect on human health can be collected, curated, interpreted and shared freely and openly.
Learn more about the projectBoard Members
The operations of the Human Variome Project are overseen by a Board of Directors. The Board consists of members encompassing substantial skill sets genetics and genomics, health service management, securing project and programme funding, strategy, business and finance.
Board Members
Sir John Burn
Treasurer / Director
Professor Sir John Burn MD FRCP FRCPE FRCPCH FRCOG FMedSci was born and trained in medicine in North East England. He returned there in 1984 as its first consultant in clinical genetics and went on to become the professor of Clinical Genetics at Newcastle University in 1991. After 30 years as the leader of a highly successful NHS service and Human Genetics research institute he now combines his clinical and teaching role with being chief investigator of CAPP, the international Cancer Prevention programme, genetics lead for the UK National Institute of Health Research, medical director of the medical device company, QuantuMDx ltd., and co-chair of the Scientific Advisory Board of the Human Variome Project. With his wife of 40 years, Linda, he has two children and four grandchildren and his favourite pastime is playing the drums. He was knighted by Queen Elizabeth II in 2010 for services medicine and healthcare.
Zilfalil bin Alwi
Board Member
Zilfalil bin Alwi 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 obtained a Masters degree (MSc) in Medical Genetics from University of Glasgow, United Kingdom and 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 80 publications 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, founding President of the Malaysian Society of Human Genetics and the Deputy President of the Genetics Society of Malaysia (PGM).
Garry Cutting
Director
Dr Cutting holds positions at Aetna/U.S. Healthcare Professor of Pediatrics and Medicine, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland USA. Dr. Cutting’s research is focused on the causes of phenotype variation in the single gene disorder cystic fibrosis (CF). He directs a worldwide project called CFTR2 that aims to characterize the clinical and functional consequences of all mutations reported in the CF transmembrane conductance regulator (CFTR), the gene that causes CF. Dr Cutting’s laboratory also investigates the role of CFTR mutations in phenotypes that overlap with CF (chronic rhinosinusitis, male infertility and obstructive lung diseases). His current work involves the quantification of genetic and non-genetic factors to trait variation in CF and the elucidation of interactions among these factors. Genome-wide linkage and association methods are being used by his group to identify specific genetic modifiers of CF.
Johan T. den Dunnen
Board Member
Johan T den Dunnen is currently employed at the Center for Human and Clinical Genetics, studying genetic disease in general and neuromuscular disorders (DMD/BMD, LGMD) in particualr. He currently curates over 50 gene sequence varitamt databases. His gorup developed the freely avaialbale LSDB-in-a-Box software package LOVD, the Mutalyzer tool (HGVS mutation nomenclature description) and he participates int he EU FP7 Gen2Phemn project (WP leader for LSDBs).
Julia Hasler
Board Member
Julia Hasler was born in Zimbabwe, has a BSc Honours in Biochemistry and a PhD in Medical Biochemistry from the University of Cape Town. She joined the University of Zimbabwe (UZ) in 1981 where, over a 22 year period, she held academic positions leading to Professor of Biochemistry. She established a viable and productive research group at the UZ and developed valuable collaborations within Zimbabwe, regionally and internationally. From October 2003 to April 2011, she worked at UNESCO in Paris as a Programme Specialist and was responsible for programmes to promote and support capacity building and international collaboration in the life sciences and chemistry. Currently based in Cambridge, UK, she works independently for promotion of international science cooperation.
Raj Ramesar
Board Member
Raj Ramesar is Professor and head of the Division of Human Genetics at the University of Cape Town. He also serves as Director of the MRC Human Genetics Research Unit, and CANSA’s Colorectal Cancer Research Consortium. Prof Ramesar is principal investigator on the Retinal Degenerative Disorders research project. Apart from being involved directly with several established research projects aimed at elucidating the genetic basis of diseases in South Africa, he is currently channeling his energy in setting up research into understanding the genetic basis of the more complex yet common chronic disorders (e.g. hypertension) in our populations. Raj is married to Jenny, and they have two sons and a daughter. His nonacademic pursuits include bonsai and painting in watercolours.
Michael Watson
Board Member
Michael S. Watson, PhD, FACMG, received his MS in Medical Genetics and his PhD in Physiology & Biophysics from the University of Alabama at Birmingham while focusing on human medical genetics; his postdoctoral training was in the Medical Genetics Training Program at Yale University School of Medicine where he was the Associate Director of Clinical Cytogenetics. He was director of Clinical and Molecular Cytogenetics at Washington University School of Medicine in St. Louis, Professor of Pediatrics and Genetics from 1986–2001, Director of the Medical Genetics Training Program (1996-1999) and is certified by the American Board of Medical Genetics (ABMG) in Clinical Cytogenetics and as a PhD Medical Geneticist.
Ingrid Winship
Chair / Director
Professor Ingrid Winship is the inaugural Chair of Adult Clinical Genetics at the University of Melbourne and the Executive Director of Research for Melbourne Health.
Professor Winship completed her medical training and postgraduate training in genetics and dermatology at the University of Cape Town, followed by a combined academic and clinical position there. In 1994, she joined the University of Auckland where she later became Professor of Clinical Genetics, Associate Dean Research, and Clinical Director of the Northern Regional Genetic Service.