Investigating the molecular mechanisms of rare genetic disorders v1.4
Research type
Research Study
Full title
Investigating the molecular mechanisms of rare genetic disorders
IRAS ID
229483
Contact name
James A Poulter
Contact email
Sponsor organisation
University of Leeds
Duration of Study in the UK
9 years, 11 months, 31 days
Research summary
Although individually rare, rare genetic disorders collectively account for 6% of disease in the UK. Leeds, Bradford and Calderdale have among the highest infant mortality rates in the country, of which a large proportion are likely due to genetic disease. Autosomal recessive genetic conditions in particular account for a large proportion of congenital anomalies. For these disorders each parent carries a mutation (but is unaware and unaffected by it) and only when two mutations come together by chance in one child are there any adverse consequences. A wide range of disorders are inherited in this manner and together they represent a major cause of death and disease, particularly in childhood. The risk of having a child with a recessively-inherited disorder increases if the parents are blood relatives. For other disorders, only one copy of the mutation is required to cause disease and this may either be inherited from a parent who also has the disease or the mutation may have occurred in the affected individual by chance, due to a mistake in the DNA copying process. The identification of the genetic basis for a disorder provides two major benefits. Firstly, accurate genetic testing becomes possible, with improvements in diagnosis and genetic counselling. Secondly, important and often unexpected scientific insights are made into the disease mechanism of the disorder and into the normal function of the disease gene, which can lead to new treatments. In order to understand these rare genetic disorders more, we are working with families and their clinicians to identify the underlying gene mutation causing their disease and to research the function of the encoded protein using model cell lines or patient cells.
REC name
Yorkshire & The Humber - Leeds East Research Ethics Committee
REC reference
18/YH/0070
Date of REC Opinion
10 May 2018
REC opinion
Further Information Favourable Opinion