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Dear colleagues and friends,

It has been sometime since I posted an update.

The Human Variome Project

The Human Variome Project is a global consortium with 1300+ members across 81 countries, that is committed to building capacity worldwide in the collection, curation, interpretation and open sharing of information on variation in the human genome. It has both Associate NGO status with UNESCO, and a Memorandum of understanding with the World Health Organisation.

For 10 years, the HVP has been coordinated by an Australian body, Human Variome Project International Ltd, a not-for-profit, Australian public company limited by guarantee.

In the last few years:

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The Board of Human Variome Project International Limited is pleased to announce the appointment of two new directors to the Board. We welcome James Angus and Zhonghua Gao to the team.

Zhonghua Gao heads the Beijing China Health Huayang Institute of Gene Technology and is the newly appointed Director of the HVP China Node Working Committee. 

James Angus is a Professor in the Department of Pharmacology and Therapeutics at the University of Melbourne and is the former Dean of the University of Melbourne Faculty of Medicine, Dentistry and Health Sciences.

Both Zhonghua and James bring a depth of experience and new perspectives to the Board. 

We are also pleased to welcome Kathryn North as an adviser to the Board on strategy and activities, and as formal liaison between the Human Variome Project and the Global Alliance for Genomics and Health Steering Committee. Kathryn is currently the Director of the Murdoch Childrens Research Institute in Melbourne, Australia and the David Danks Professor of Child Health Research at the University of Melbourne.

It is with profound sadness that I advise that Professor Richard Cotton passed away peacefully in his sleep on Sunday morning.

We here at the International Coordinating Office, as I'm sure are you, are deeply saddened and shocked by this tragic news.

Dick provided us with leadership that inspired us all to embrace his global vision. He leaves behind a truly remarkable legacy. His vision in the field of the collection and sharing of human genetic variants is legendary. He was one of the first to realize that DNA sequencing would change the world and that genetic diagnostics would be based on sharing information on genes, variants and phenotypes. Without sharing this data, diagnosis would not be possible and optimal care to the patients and their family's non-existent.

He spent the last 30 years of his life persuading people to share his vision and what they know about genes, variants and phenotypes. He started the journal Human Mutation, initiated the alternating bi-annual International Mutation Detection Workshops and HUGO Mutation Detection Courses, the HUGO Mutation Database initiative, stood at the basis of the HGVS recommendations to describe DNA variants and organizations like the Human Genome Variation Society (HGVS) and since 2006, the Human Variome Project (HVP). Irrespective of whether all these efforts were as successful as he might have wished, Dick Cotton was the enthusiastic driver that mobilized many volunteers, to spread the word, do some work and make a difference.

From the start he realized the importance of developing a common, world-wide accepted language to describe DNA variants. He gave a kick-start to suggested standards like this by offering the option to publish them in the journal Human Mutation. When standards matured he dared to take the risk by demanding their use before accepting papers for publication in Human Mutation.

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