28 October 2013
ByAppeared in BioNews 729
There are an estimated 7,000 different rare genetic diseases and about 3.5 million people in the UK will be affected by one at some point in their lives. Because the individual diseases are rare, finding the genes involved in a particular disease is often difficult without information on the whole genome of the patient.
'We are excited to be partnering in this ground-breaking project to discover the genes underlying rare genetic diseases, which may lead to offering new tests and pave the way for new opportunities for treatment', said Professor Mark Caulfield, chief scientist at Genomics England.
The rare genetic diseases project is part of a wider programme in the UK to sequence 100,000 genomes. It is hoped that increasing the amount of genomic data available will improve healthcare outcomes and patient care in the NHS.
Sarah-Jane Marsh, chief executive at Birmingham Children's Hospital, said: 'More than five percent of babies are born with a genetic disease. At the moment, too many of the affected families are unable to access the best diagnostics and treatment available'.