Exome sequencing in undiagnosed rare diseases v1.0 02/07/2020
Research type
Research Study
Full title
Using exome sequencing to identify genomic causes of rare diseases in adults
IRAS ID
286965
Contact name
Alisdair McNeill
Contact email
Sponsor organisation
Sheffield Children's NHS Foundation Trust
Duration of Study in the UK
2 years, 0 months, 0 days
Research summary
A rare disease is one which affects fewer than 1/2000 people in the UK. It is estimated that 85% of rare disease has a genetic cause. With modern genetic techniques only 50-60% of rare disease patients have a diagnosis (ie a change in a gene which stops the gene from working and causes disease has been identified). There are many unknown genetic causes of rare disease still to be discovered. In this project we will use an advanced genetic sequencing technique called exome sequencing - which reads the code of all 20 000 genes in the human body. We will use this to try and identify genetic causes for medical conditions affecting adults with rare diseases who have not had a diagnosis by NHS testing. NHS genetic testing at present only examines genes known to be associated with a particular disease and so will not detect new genetic causes of disease. In our project we will read the code of all known genes to identify genes which have not been previously associated with human disease. This technique has been established as effective for children but its role in diagnosing adult patients with rare disease is unclear.
REC name
East of Scotland Research Ethics Service REC 1
REC reference
20/ES/0121
Date of REC Opinion
21 Dec 2020
REC opinion
Further Information Favourable Opinion