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?

• OMIM, Online Mendelian Inheritance in Man : far the best, an excellent resource.
• The Human Gene Mutation Database: it consists of about 53,200 entries, but if you take a look at the statistics, you’ll see that the numbers are seriously decreasing.
• And there is a page for Variation Databases and Related Sites at Human Genome Variations Society (Formerly the HUGO Mutation Database Initiative)

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:

• Human Genome Variation Society Meeting: “Pharmacogenetics & Human Genome Variation” (21 May, 2007)
• IXth International Symposium on Mutations in the Genome (23-27 September, 2007)
  

References:

• Official Page
• Human Variome Project: an international collaboration to catalogue human genetic variation; Huijun Z Ring; Pharmacogenomics, October 2006, Vol. 7, No. 7, Pages 969-972 (doi:10.2217/14622416.7.7.969)
• The Genomic Disorders Research Centre
• Wikipedia article