14 new developmental disorders identified; diagnosis provided for some rare conditions

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New Delhi: Scientists from UK claim to have identified fourteen new childhood developmental disorders and also provide diagnoses of some rare conditions to many kids.

These diagnosis allow families with the same genetic conditions to connect and access support, and help inform better clinical management.

The study led by researchers at the Wellcome Trust Sanger Institute in the UK also accelerates research into disease mechanisms and possible therapies.

Each year, thousands of babies are born who do not develop normally because of errors in their genetic makeup. This can lead to conditions such as intellectual disability, epilepsy, autism or heart defects.

There are over 1,000 recognised genetic causes, however many individual developmental disorders are so rare that the genetic causes are not known.

The Deciphering Developmental Disorders (DDD) study aims to find diagnoses for children with as yet unknown developmental diseases and demonstrate that new genomic technologies can provide improved diagnostic tests.

Researchers screened all 20,000 human genes from more than 4,000 families, from across the UK and Republic of Ireland, with at least one child affected by a developmental disorder.

The team focused on spontaneous new mutations that arise as DNA is passed on from parents to children.

(With PTI inputs)