Researchers have discovered 12 new genes linked to developmental disorders. These discoveries are part of a vast genomic study program launched in 2010.
Autism, Asperger’s syndrome … Pervasive developmental disorders (PDD) are complex diseases and not always diagnosed. But recent findings by British and Irish researchers published in the journal Nature could be a game-changer.
DNA decryption of more than 1000 children
Carried out as part of a large international program entitled “Deciphering Developmental Disorders” (DDC), the study collects medical data from 12,000 families in the United Kingdom and Ireland. This is the largest genomic sequence ever performed in PDDs. Started in 2010, the project involves the participation of 180 clinicians and analyzes the DNA of more than 1000 children in total. Researchers focused more on children with similar genetic mutations, including when they were hundreds of miles apart.
Towards a better diagnosis of PDDs
Of the 12 genes discovered, 4 were identified in unrelated children. And one in particular, named PCGF2, which is crucial in embryo development, has informed researchers about a new facial dysmorhic symptom, which could be involved in the diagnosis of PDD. “Thanks to the large data from the DDC, we will now be able to meet the urgent need of families to receive a diagnosis,” said Dr Firth, who led the study. These new genetic data should indeed allow patients and their families to benefit from more information concerning the diagnosis and advice for the management of the disease. The DDC will end in 2017.
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