One of the Wellcome Trust Sanger Institute study identified 14 new developmental disorders with a genetic basis. This is the largest genetic study of children of all time, with more than 4,000 families involved. Research has made a response to more than 1,000 children suffering from rare genetic diseases, who were still without a diagnosis. Answers that will enable families affected by similar genetic conditions to contact, so as to give support to each other and also improve the clinical process. Thanks to the new diagnosis, children can also hope for more effective future treatments and specific.
The data show that each year are born worldwide over 400,000 children with developmental disorders. They are genetic conditions that cause intellectual disability, epilepsy, autism, heart problems. Doctors have already identified more than 1,000 genetic causes, but many of these disorders are so rare as to render impossible a diagnosis. The "Deciphering Developmental Disorders" project (deciphering of developmental disorders) aims precisely to fill these gaps. The researchers involved exploiting new genomic technologies to provide DNA testing to identify the genetic causes of the diseases in question, so as to provide a diagnosis to the sufferer.
The team consists of over 200 geneticists from the National Health Service, which analyzed the genetic makeup of more than 4,000 families with at least one child with developmental disorders. The team focused on new spontaneous mutation that emerge when the DNA is transmitted from parents to children. Researchers have identified new genetic mutations linked to already identified disorders and have created groups including those with similar disorders. In addition to this, they identified 14 new developmental disorders, all caused by spontaneous mutations not present in either parent.
he study shows that 42% of the children involved had a new genetic mutation on genes important for development. The study also shows that children of older parents have a higher rate of risk of being born with developmental disabilities. To monitor the health of their baby, the mother can undergo non-invasive prenatal screening tests can detect the presence of chromosomal abnormalities.
Source: sanger.ac.uk