One of the largest genetic studies of children with earlier undiagnosed rare progressive disorders has discovered another shocking 14 new developmental disorders. Published today in Nature, the research led by scientists at the Wellcome Trust Sanger Institute also provided diagnoses of rare conditions for over a thousand children and their families.
These identifies families with the same genetic conditions to connect and access provision, and help inform better clinical supervision. The study also accelerates research into disease mechanisms and possible treatments.
Studies Could Determine Genetic Problem On Newborn Babies
Each year, thousands of babies are born undeveloped because of errors in their genetic composition. This can lead to situations affects intellectual disability, epilepsy, autism, or heart defects. There are over 1,000 recognized genetic causes, although, many individual developmental disorders are so rare that the genetic causes are yet to know. The Deciphering Developmental Disorders (DDD) study diagnoses aim for children with yet unknown developmental diseases it causes, but it demonstrates that new genomic technologies can provide enhanced diagnostic tests.
The study team could diagnose children who had new mutations in genes already linked to developmental disorders -- about one quarter of the patients in the study. Moreover, they identified 14 new developmental disorders, all caused by spur-of-the-moment mutations not found in either parent.
Dr. Jeremy McRae, the first author from the Wellcome Trust Sanger Institute, said: "Each of these disorders is extremely rare, so many patients in this study was crucial to diagnosis. An individual doctor may see only one case, but by collaborating with hundreds of NHS staff and researchers we could link children from clinics across the British Isles. This allowed the team to match up children with similar disorders within the project and provide diagnoses for them."
Checkups Before Or After Pregnancy Could Detect Early Sign And Correct It
Professor David FitzPatrick, a supervising author from the MRC Human Genetics Unit at the University of Edinburgh, said: "Families search for a genetic diagnosis for their children, as this helps them recognize the cause of their child's mental disorder. This can help doctors better manage the child's condition and gives clues for additional research into future therapeutics. A diagnosis can help parents know what the future holds for their child and the risk of any succeeding pregnancies being affected with the same syndrome, which can be a vast help if they want a larger family."
They also established that older parents have a higher risk of having a child with a developmental disorder triggered by a new genetic mutation. The chances rose from 1 in 450 for 20-year-old parents having a child with a rare disease to 1 in 210 for 45-year-old parents.
From this point, the researchers calculated that nearly 400,000 of the 140 million annual births around the world will have a developmental disorder caused by an impulsive new mutation that is not carried by either parent genetic imbalance. Finding out through diagnosis can be a huge release for parents and enables them to go with other families with the same disorder. It lets them access support, plugs into social networks and participates in research projects for that specific syndrome."
