https://mailchi.mp/6d44df00cc88/hugo-newsletter-april-4928346?e=93495c83ac
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The HGVS nomenclature committee, the Sequence Variant Description working group (SVD-WG), is a group of experts guarding the nomenclature recommendations. The committee currently exists of eight members and three observers (representing HGVS, GV/HVP and HUGO). Until now, membership of the committee has been assigned on an ad-hoc basis. The plan is to make membership of the HGVS nomenclature committee a more open process where candidates apply for membership and committee members serve a specified term time. The plan is to start this process
UAE launches new Centre for Genomic Discovery
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Blog
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BRCA Exchange is thrilled to announce that 
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These guidelines have now been published on the HVP website.
We encourage all memebers to:
1. Circulate it to their colleagues and students
2. Post on their web-site
3. Suggest the guide be used as a basis for discussion at up-coming meetings
This paper is the result of the work of many HVP members and we thank them very much – in particular the authors, Mauno Vihinen and John Hancock
Click here to view the paper
We encourage all members to:
1. Circulate it to their colleagues and students
2. Post on their web-site
3. Suggest the guide be used as a basis for discussion at up-coming national meetings and local workshops
The paper has also appeared online at Human Mutation. PDF not available here as of yet.
Media Release
For Immediate Release
Kuala Lumpur, 17 March 2015—Patients with one of a number of devastating genetic blood disorders, such as thalassemia and sickle cell anaemia, will benefit significantly in the coming years from a new international project announced today at the annual Human Genome Organisation meeting in Kuala Lumpur. The Global Globin 2020 Challenge (GG2020), an initiative of the Human Variome Project—an international scientific NGO working with UNESCO and WHO to build medical genetics and genomics capacity, particularly in low- and middle-income countries—will apply recent developments in human genomics involving the systematic collection and sharing of genetic variation data to fighting these blood disorders, referred to technically as haemolytic anaemias.
In particular, the Challenge will build an evidence base for the better management of delivery of local treatment, care and eventually cure for these diseases by ensuring that there is sufficient local capacity to deliver services. It is believed that the Challenge will put in place the skills and expertise in genomic medicine needed to effectively tackle other health issues in these countries as well.
The Challenge is being led by two leading geneticists, Professor Zilfalil bin Alwi from Malaysia and Professor Raj Ramesar from South Africa. Both are members of the Human Variome Project Board and can see the benefits this project will bring to their patients and others in South East Asia, Africa and the rest of the world.
Human Variome Project International (HVPI) Chairman, Chris Arnold, who chaired the HUGO session introducing the project, thanked the GG2020 challenge co–chairs and fellow HVPI directors, Professor Zilfalil Bin Alwi, from Universitie Sains Malaysia and Professor Raj Ramesar from the University of Cape Town South Africa for their leadership and willingness to coordinate this major global initiative. Mr Arnold stated “The haemolytic anaemias collectively, are cause for significant morbidity and mortality, especially in parts of the world where health systems are often less well developed. Children are often most severely affected. Despite much being known for a long time about the genetics and biology of the haemolytic anaemias and this knowledge being used successfully in some countries to systematically reduce burden of disease, low- and middle-income countries have remained practically untouched by this knowledge and innovations.”
In launching the Challenge, Professor bin Alwi said, “The Malaysian Node of Human Variome Project is honoured to be given the privilege to co-chair this Global Globin Initiative. Hemoglobinopathy, in particular Thalassaemia, is a common disease in Malaysia where about 5% of the population are carriers of the disease".
...Media Release
For Immediate Release
Paris, France, 21 May—The diverse range of human genomics research projects being undertaken by African institutions and researchers involved in the Human Hereditary and Health in Africa (H3Africa) Consortium was highlighted yesterday during the 5th Biennial Meeting of the Human Variome Project Consortium. The lead researchers from seven African nations involved in the H3Africa Consortium presented their ongoing work at a special session of the Human Variome Project meeting that was opened by Mdme Robertine Raonimahary, Director of the United Nations Educational, Scientific and Cultural Organisation’s (UNESCO) Africa Department Office for Cooperation and partnerships between Member States.
“It is no secret that Africa’s history has been marked by a development narrative in which the benefits from science, technology and innovation have been enjoyed by few,” said Raonimahary. “Today it is changing and Africa’s leaders view science, technology and innovation as critical to human development and global competitiveness and increasingly are investing more substantially in research, quality science education and upgrade of research and teaching infrastructure. Over the last few years the biggest revolution is occurring in genomic research. Nowadays Africans have the highest levels of genetic diversity within and among populations and the study of this diversity can contribute immensely to this area of science. First of all to reconstruct human demographic and evolutionary history, to study the African Diaspora and African ancestry globally, to study the genetic basis of susceptibility to communicable and non-communicable diseases and finally to understand differences in drug response.”
The projects being presented ran the gamut of human genomics research from identifying the genetic variants involved in the development of diseases primarily affecting individuals of African descent to investigating the underlying genomic components of susceptibility to infectious diseases such as trypanosomiasis. Researchers also reported on the development of a continent spanning bioinformatics capability and a network of state-of-the-art biorepositories.
Professor Raj Ramesar from the University of Cape Town, who chaired the session and sits on the H3Africa Steering Committee, said, “Twenty-seven African nations are currently involved in the H3Africa Consortium covering twenty research project n diseases of local relevance with funding in the order of US$74 million provided by the US National Institutes of Health and the UK Wellcome Trust. The session during the Human Variome Project meeting was directed at bringing the progress and results of these important projects to the attention of African governments and highlighting the current research impetus in their countries towards translating the outcomes of these projects for local utility.”
...Media Release
For Immediate Release
Melbourne, 10 October - Efforts to fully document the full scale of human genetic variation and its role in illness and disease were boosted last week with the launch of the Human Variome Project South East Asian Node.
The Human Variome Project is an international initiative, coordinated from Melbourne, to ensure that discoveries about the human genome and how it affects our health are routinely shared in a free and open manner.. The Human Variome Project South East Asian Node will assist the national efforts of Malaysia, Brunei, Vietnam, Singapore and Thailand to share information on genetic variations in South East Asian populations between member nations and the rest of the world.
"This is a tremendous step forward for these countries," said Professor Richard Cotton from the University of Melbourne and Scientific Director of the Human Variome Project, who was present at the launch ceremony in Melaka, Malaysia on the third of October. "These countries obviously recognise that genetic and genomic healthcare is an important part of a well developed health system and they are serious about providing these services to their citizens."
Once thought to only contribute in a major way to a small subset of diseases that primarily affect children, genetics is now seen as being important to almost all areas of human health.
...Media Release
For Immediate Release
Melbourne, 23 August — The Human Variome Project International Coordinating Office are pleased to announce that Professor Sir John Burn, Deputy Chair of the Project’s International Scientific Advisory Committee will be delivering the 2013 R Douglas Wright Lecture at the University of Melbourne on Tuesday, 3 rd September, 2013.
Professor Sir Burn is currently the lead clinician for the UK National Health Service (North East), and genetics lead for the UK National Institute of Health Research. He was previously a director of the Institute of Genetic Medicine at The University of Newcastle-Upon-Tyne (2005-2010), and president of the European Society of Human Genetics (2007).
Professor Burn is widely regarded in the field of monogenic disorders particularly in establishing the genetic basis of a neurodegenerative disorder called neuroferritinopathy, and the major form of hereditary colorectal cancer called the Lynch syndrome. He led the study that demonstrated the use of aspirin in reducing the risk of colorectal and other cancers in persons with Lynch syndrome, and leads an international consortium investigating chemoprevention in persons with hereditary non-polyposis colon cancer.
He is currently exploring cell-based vaccines for colorectal cancer, and is involved in a startup company which aims to develop the use of nanowires, nanotubes and nanoribbons in genotyping and gene sequencing.
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