Study identifies genetic causes of different developmental disorders in 5,500 paediatric patients
As explained in an article published in the New England Journal of Medicine, the research group delved into an extensive analysis of the genomes of over 13,500 families from the United Kingdom and Ireland, all of whom had children afflicted with severe developmental disorders. Their approach involved meticulously sequencing the exomes of these patients in a quest to unearth mutations, focusing on single nucleotide polymorphisms (SNPs). These SNPs represent alterations occurring in a single letter or base of the DNA sequence, with DNA being composed of four bases: adenine (A), thymine (T), guanine (G), and cytosine (C).
The study's success owes much to the seamless data exchange between research centres in the UK and Ireland. Facilitating this crucial collaboration is the DECIPHER computer platform—a sophisticated interconnected database. This platform has not only enabled the diagnosis of patients, but it has also fostered invaluable cooperation among families, clinicians, and the dedicated research staff involved in this pioneering project.
The study's findings have been groundbreaking, with over 5,500 children affected by developmental disorders receiving accurate diagnoses. Moreover, the research team successfully identified mutations in more than 800 genomic regions among these patients. Close to 75% of the disorders stemmed from spontaneous (de novo) mutations, rather than being inherited from parents. The study shed light on a critical disparity, revealing that families of non-European descent faced greater challenges in obtaining a diagnosis. This underscores the urgent need for underrepresented groups to actively engage in biomedical research.
The Deciphering Developmental Disorders project has already yielded remarkable results, boasting an impressive collection of over 290 publications in scientific journals. Moreover, this initiative has played a pivotal role in identifying and shedding light on 60 previously unknown developmental disorders.
*Source: 5,500 people diagnosed with rare genetic diseases in major research study
