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The Human Variome Project: new horizons in clinical genetics

The Human Variome Project is an international initiative to collect data on mutations causing diseases. The goal is to improve genetic healthcare and research around the world. From their main page:

Two out of three people will be affected by a gene variation at some time in their lives … that’s why it’s essential we document and share all we know about these variations and their effect on humanity.

Why is it so important? Imagine a world where a child with Pompe disease doesn’t have to wait 3-4 years before the proper diagnosis and treatment

Image source

But first, what kind of databases can we use now?

The Human Variome Project (referring to the expressions proteome or genome) aims to help physicians, patients and researchers with an incredible and reliable database of genetic conditions and mutations. Some of the key objectives are:

  • Capture and archive all human gene variation associated with human disease
  • Provide a standardized system of gene variation nomenclature, reference sequences and support systems
  • Facilitate the development of software to collect and exchange human variation data
  • Create a support system for research laboratories
  • Establish a communication and education program to collect and spread knowledge related to human variation knowledge

But in their project overview, they write even more promising objects:

  • enabling doctors to rapidly diagnose and inform patients with rare diseases (don’t forget Pompe disease in this point of view!)
  • allowing new diagnostics
  • helping researchers develop new treatments
  • assisting in uncovering the causes of common diseases, such as breast cancer os asthma

In 2006, Hsien Hsien Lei at Genetics and Health had a post about the Project’s meeting in Melbourne, Australia. And the recommendations from that meeting will be published in April 2007 by Nature Genetics.

The Genomic Disorders Research Centre has similar objectives according to their mission statement. And they also write about mutation detection methods and databases or even student projects.

The fact that there are 30,000 genes each able to be faulty by at least 100 ways, to cause inherited disease and cancer, underlines the purpose of the Centre. This is reinforced by frequent requests from around the world for help in Mutation Detection.


Future conferences, meetings on the subject:


3 Comments Post a comment
  1. Always neologisms… and always these “hypedly formed” ones. Strings matching the regexp “.*ome” always sound dubious to me, as well as hype-seeking and trying-to-be-up-to-date, just as these hyphened-many-words-as-one words. Nothing about content being criticized here; it’s only nomenclature. Science is constantly drifting in its nomenclature preferences, some notions being associated to certain groups or ideals. (Like those funny gene names being associated to deep in tech genetics or even worse, bioinforatics researcers, or funny program names associated to the GNU community.) Nothing wrong about that. Just my personal opinion. Just mind my words: using a certain kind of pattern for creating neologisms encourages others to categorize you into some caste or other. You have been warned.

    February 28, 2007
  2. Very timely and helpful undertaking. I saw this movie on unwanted mutation brought about by nuclear testing in New Mexico – of course, the place is just fictional. And it was really sad because the mutant didn’t only change their physical appearance but also changed their whole being. Most of them didn’t act like humans anymore; rather they act like savages or monsters hungry for human flesh and blood.

    November 2, 2007

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