Sanger Institute: The largest-ever genetic study of children with previously
undiagnosed rare developmental disorders has discovered 14 new
developmental disorders. Published today (25 January 2017) 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 diagnoses allow families with the same genetic conditions to
connect and access support, and help inform better clinical management.
The study also accelerates research into disease mechanisms and possible
therapies.
