Rare Disease Genomes Project to sequence 10,000 whole genomes

A three-year joint project to sequence the genomes of 10,000 rare disease patients has been announced by Genomics England, the University of Cambridge, and Illumina.

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.

The University of Cambridge Biomedical Research Centre will use the project to develop processes to bring routine clinical whole genome sequencing into diagnostic use.

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'.