On Sept. 23, 2024, researchers from the Wellcome Sanger Institute and their collaborators at GeneDx, announced results of a study that assessed the role of recessive genetic variants in developmental disorders.

In the most diverse study to date, the researchers analysed genetic data from nearly 30,000 families affected by developmental disorders – six times more families with greater diversity in ancestral backgrounds compared to previous work. The study results suggested reanalysis of genetic data could improve understanding and diagnosis of conditions for millions of families worldwide.

Many developmental disorders, which can impact a child’s physical, intellectual, or behavioural development, have genetic origins. Some are caused by recessive genes, where a child must inherit an altered gene copy from both parents to develop the condition. They include Joubert syndrome, Bardet-Biedl syndrome and Tay-Sachs disease. Until now, overall quantification of these recessive genetic causes across diverse populations has not been done. The findings were published in Nature Genetics.