Genotype and Phenotype in Inherited Neurodegenerative Disease
Research type
Research Study
Full title
Genotype and Phenotype in Inherited Neurodegenerative Disease
IRAS ID
136697
Contact name
Patrick Chinnery
Contact email
Sponsor organisation
Cambridge University Hospitals NHS Foundation Trust
Clinicaltrials.gov Identifier
13/YH/0310, REC; 609/M/C/1649, Cambridge University Insurance Office
Duration of Study in the UK
4 years, 11 months, 30 days
Research summary
Inherited neurodegenerative disorders affect ~1 in 2000 of the UK population. These diseases often cause progressive disability and premature death. There is currently no cure for many of these disorders, placing greater emphasis on genetic counselling to help prevent disease.
In many patients it is not possible to make a precise diagnosis at the genetic level. This is extremely important because it allows clinicians to give accurate genetic counselling to patients and their families, and opens up opportunities to develop new treatments based on an understanding of the disease mechanism.
Despite major advances in our understanding of the genetic basis of neurodegenerative diseases, the diagnosis of many familial neurodegenerative disorders remains uncharacterised at the genetic level. In Cambridge, we run a specialist tertiary neurogenetic clinic and patients with a range of inherited neurodegenerative disorders attend the neurogenetic clinic. Unfortunately it has only been possible to reach a genetic diagnosis in approximately one third of the patients attending this clinic. The over-arching aim of this research is to identify the genetic basis of these disorders and describe the extent of the clinical phenotype in detail. For the individual patients and their families, this research will: (i) provide patients with an explanation for their neurodegenerative disorder, (ii) enable reliable genetic counselling and prenatal diagnosis, (iii) occasionally identify patients with a treatable disorder that cannot currently be diagnosed using standard NHS tests, and (iv) identify biomarkers that could be used to monitor disease progression. By studying a large group of patients, we will identify new genetic causes for these diseases. Based on previous work, it is likely that this will reveal novel disease mechanisms that will potentially lead to the development of new treatments.
REC name
Yorkshire & The Humber - Bradford Leeds Research Ethics Committee
REC reference
13/YH/0310
Date of REC Opinion
7 Oct 2013
REC opinion
Further Information Favourable Opinion