The Genomic Basis of Parkinson's Disease on the island of Ireland
Research type
Research Study
Full title
The Genomic Basis of Parkinson's Disease on the island of Ireland.
IRAS ID
272712
Contact name
Tony Bjourson
Contact email
Sponsor organisation
Genomics Medicine Ireland
Duration of Study in the UK
10 years, 0 months, 1 days
Research summary
Parkinson’s Disease (PD) is a chronic progressive neurodegenerative disease and the second most frequent neurodegenerative disorder after Alzheimer’s Disease (AD). PD is a complex disorder as it encompasses both motor and non-motor symptoms. A number of non-motor symptoms can develop up to 20 years before the onset of motor symptoms, these include constipation, bladder and bowel problems, fatigue, loss of smell, sleep disorders, etc. PD is classically diagnosed by the manifestation of impaired motor function such as dyskinesia (difficulty controlling intended muscle movement), tremor, dystonia (involuntary muscle contractions), freezing of gait (inability to start walking), and other motor complications become evident as PD progresses.
Recent advances have revealed a stronger genetic contribution in PD than previously thought. Recent studies have reported 10-30% heritability in PD. A better understanding of genetic risk factors is playing a critical role in elucidating PD disease mechanisms. Studying the genes responsible for inherited cases of PD can help researchers understand both inherited and sporadic cases. The same genes that are altered in inherited cases may also be altered in sporadic cases by environmental toxins or other factors.
We will conduct the research by collecting blood samples (containing our genetic material – DNA, RNA and proteins), a lifestyle questionnaire and relevant medical information from fully-consented individuals with PD. Our genetic material is like an instruction manual containing the information needed to make, run and repair each person. In some cases, changes in our genetic material can lead to health problems.
This genomics study has tremendous potential to translate to health improvement for future patients. Specifically, the findings from this study may be used to better diagnose, predict progression and tailor treatment based on a person’s genetic makeup. It may also lead to the identification of new drug targets for the development of novel therapeutics.
REC name
London - Chelsea Research Ethics Committee
REC reference
20/PR/0077
Date of REC Opinion
3 Aug 2020
REC opinion
Further Information Favourable Opinion