Study Reveals 28 Genes Linked to Developmental Disorders

A new study about the causes of developmental disorders has identified 285 genes linked to these conditions, including 28 newly-associated genes. Published today in Nature, the collaborative study by researchers at the Wellcome Sanger Institute, Radboud University Medical Center, OPKO Health's GeneDx, could allow for easier diagnosis for patients with developmental disorders.

"From previous studies, we know that certain genes and types of mutation are more strongly linked to developmental disorders, which has allowed us to narrow our search,” says first author Kaitlin Samocha. “Combined with a much larger dataset, this has enabled us to identify 28 novel genes associated with developmental disorders."

For this study, the researchers analyzed 31,058 exome sequence trios. Each trio included sequences from a child with a developmental disorder and their parents. The sample was created by combining existing research and clinical datasets from the Wellcome Sanger Institute, Radboud University Medical Center, and GeneDx.

According to the team, the scale of the dataset greatly increased the statistical power available to search for previously undiscovered mutations. The authors then used an improved statistical test to determine whether individuals in the study had more mutations in the same gene than they would expect to occur by chance. The study also applied statistical modeling to the data to estimate that approximately 1,000 more development disorder-associated genes remain undiscovered. Around 60 percent of children born with a disorder do not have a diagnosis and the authors estimate that around 50 percent of these children will have a mutation in one of these unknown genes.

"This study demonstrates the value of combining genomic data with healthcare data in gaining novel gene insights that improve patient outcomes,” adds researcher Mark Caulfield, from Genomics England. “It also shows that, rather than being something that just takes place in a lab, genomics is bringing about tangible advances in healthcare that directly impact patients and their families. It should serve as a call to action that more must be done to make anonymized patient data available for research."