August 19th 2020
New paper from Dr Gareth Baynam and other authors on diagnostics in rare diseases focused on Indigenous and other minority population groups has recently published by The American Journal of Human Genetics.
The scientific article was focused on genomic research done to collect knowledge about pathogenic DNA variants in people with not European ancestry. This is particularly relevant since so far the pathogenic variants that differs greatly among human populations, have been analyzed mainly on people with European ancestry.
Dr Gareth Baynam is the chair of the IRDiRC Diagnostics Scientific Committee (DSC) aimed at identifying current and future bottlenecks to rare disease gene discovery, addresses challenges and roadblocks in rare disease diagnosis, and collaborates with international partners to develop tools and resources to facilitate genomic data discovery, analyses and sharing. This work is definitely going toward this direction.
The article is listed under “Diagnostics” on the IRDiRC Resources & Recommendations.