Global Variome Limited
Global Variome Limited (GVL) is a not-for-profit based in the United Kingdom that was founded in 2016 to provide support services to the international coordination work of the Human Variome Project and to act as the legal instrument that allows the Human Variome Project to formally represent its Consortium members and to undertake certain activities on behalf of the members. GVL took over these functions from the previous entity, Human Variome Project International Limited, in 2016.
This legal structure allows the Human Variome Project to receive philanthropic donations and grants, and develop and manage grant programs to deliver education and capacity building opportunities.
Global Variome Limited's objects and powers include:
- to promote the prevention or the control of diseases in human beings;
- to develop and provide educational programs, training and courses in public administration, public sector management, public policy, public affairs and any other related fields;
- to alleviate human suffering by collecting, organising and sharing data on genetic variation;
- to further the Human Variome Project;
- to act as the co-ordinating office for the Human Variome Project;
- to attract and employ academics, researchers, practitioners and other staff as required;
- to provide and support the services to further the objects of the Company;
- to provide facilities for research, study and education related to the Human Variome Project;
- to carry out and conduct the business of provider of administrative and consulting services;
- to seek, encourage and accept gifts, grants, donations or endorsements; and
- to affiliate with and enter into co-operative agreements with research educational institutions, government, local governments, practitioner bodies, non-government organisations.
The operations of GVL embody three essential components necessary for the Human Variome Project to work successfully as an inclusive, international initiative:
1. build on the existing community and projects to establish productive approaches to collaboration within the Project
o support the operation of Project-wide committees, representative bodies and initiatives
o form collaborative partnerships with and between governmental and non-governmental organisations to deliver capacity building initiatives in-country
o facilitate international collaborations through scientific conferences and events
2. coordinate delivery of the Project vision, including supporting, monitoring and reporting on the individual sub-projects embodied within it
o provide strategic direction and oversight for the Project
o monitor and report on the progress of Project initiatives and activities
o manage the Project’s Standards Development Process and assist the HVP Working Groups to achieve their goals
o communicate progress to both the scientific and lay communities
o develop and deliver education and training packages
o educate the field on resources (tools, websites, data bases, funding sources) available
o educate the public on the importance of understanding genetic variation
3. provide support services that are best delivered by a central organisation with a corporate governance structure
o maintain agreed processes and legal frameworks for participating and sharing information
o expand board representation with additional internationally recognised experts to gain the broadest possible global strategic advice
o facilitate the sourcing and distribution of funds to support Project activities
o managing, coordinating and facilitating communication between the various HVP Working Groups, the Advisory Councils and International Scientific Advisory Committee
o provide administrative support to the Board of Directors, International Scientific Advisory Committee and Councils
o conduct the elections of the International Scientific Advisory Committee and Councils
o provide a single point of contact for the Project (media relations, etc.)
o disseminate Standards and Guidelines developed by the HVP Working Groups
o act as a data aggregator on behalf of the country nodes and gene/disease specific databases
o organise the Human Variome Project biennial meetings and fora series
The operations of Global Variome Limited 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.
Sir John Burn
Executive Chairman / 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
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).
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
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 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 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 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.
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.
Advisers to the Board
Adviser - strategy and activities
Liaison - GA4GH Steering Committee
Professor Kathryn North is Director of the Murdoch Childrens Research Institute and the David Danks Professor of Child Health Research at the University of Melbourne.
Professor North is trained as a paediatric physician, neurologist and clinical geneticist and in 1994, was awarded a doctorate from the University of Sydney for research into Neurogenetics. Her previous positions include the Douglas Burrows Professor of Paediatrics, Faculty of Medicine, University of Sydney from 2004 to 2012 and Head of the Institute for Neuroscience and Muscle Research 2008 to 2012.
Her laboratory research interests focus on the molecular basis of inherited muscle disorders, as well as genes which influence normal skeletal muscle function and elite athletic performance. Her clinical research focuses on clinical trials of therapies for muscular dystrophy as well as the development of interventions for children with learning disabilities. Professor North has received a number of awards for her research including the GSK Australia Award for Research Excellence in 2011, the Ramaciotti Medal for Excellence in Biomedical Research in 2012 and the Member of the Order of Australia (AM) for service to medicine in the field of neuromuscular and neurogenetics research in 2012. In the same year, Professor North was appointed Chair of the NHMRC Research Committee and Member of NHMRC Council.
In 2013, Professor North was appointed Vice Chair of the Steering Committee and Co-Chair of the Clinical Working Group of the Global Alliance for Genomics and Health (GA4GH). GA4GH is an international consortium of more than 200 institutions across 30 countries, focusing on the global sharing of genomic and clinical data and its application to improvement in patient diagnosis and treatment.