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Vale, Richard Cotton

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.

Dick Cotton was the man that inspired volunteers to become a curator for a gene variant database. He motivated people to work on and publish standards for these databases on content, data format, data sharing, etc. He motivated Johan den Dunnen and his team in Leiden to develop software for web-based database curation and to make this publicly available, for free. He motivated the establishment of the InSiGHT Database for Colon Cancer, which is now the model for both the BRCA Challenge and the Global Globin 2020 initiative. He made sure courses were started to educate people how to set up and curate a gene variant database and how to detect a gene mutation.

Dick also realised that to be successful in this endeavour, we should involve the whole world. He supported the attendance and active participation of scientists from developing countries in all these initiatives and promoted special sessions for platform presentations to present the successes achieved as well as the specific challenges faced by those working in the developing world.

He worked for, and in the end achieved, to get involvement of inter-governmental organisation such as UNECSO and the World Health Organization, which have become fundamental partners in the Human Variome Project's goals.

If it was not for Dick's leadership, generosity of spirit, his unrelenting good humour, and persistent optimism in putting all these people, efforts and achievements together, we can only wonder where we would be in DNA-based diagnostics and the delivery of genetic healthcare.

We thank him for his persistence and relentless drive for us all to do better to be less selfish and more inclusive. We are all richer for knowing and working with Dick. We now need to make sure that his example motivates us all to carry on the work to bring his vision fully into being.


Chris Arnold


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Guest Thursday, 27 January 2022