New diverse human genome holds promise for rare genetic diseases

Image credit: nci via Unsplash

Genomic research has given rise to a new and more diverse human genome, offering hope for those affected by rare genetic diseases. Published in the scientific journal Nature, the pangenome is based on the full genetic blueprints of 47 people from various ethnic backgrounds, providing a deeper understanding of human genetic diversity. By incorporating genetic information from diverse ethnic backgrounds, medical professionals can now better identify rare gene variants that might cause these diseases, enhancing the potential for accurate diagnoses and targeted treatments.

Source

“A New, More Diverse Human Genome Offers Hope for Rare Genetic Diseases.” The Washington Post, 17 May 2023, www.washingtonpost.com/science/2023/05/10/pangenome-human-diseases/.