B3207 - Genotyping of hypermobile Ehler-Danlos Syndrome EDS - 20/11/2018

B number: 
B3207
Principal applicant name: 
Qasim Aziz | Queen Mary University of London (United Kingdom)
Co-applicants: 
David Kelsell, Dr, Humayoon Shafique Satti, Dr
Title of project: 
Genotyping of hypermobile Ehler-Danlos Syndrome (EDS)
Proposal summary: 

Patients suffering with hypermobile Ehlers-Danlos Syndrome (hEDS) are frequently affected by structural gut malformations and functional bowel diseases. This affects their overall health and quality of life as symptoms progress. EDS represents a diverse group of hereditary disorders that affect function of the gluing substance (connective tissue) supporting different parts of body including blood vessels, bone, skin, gut and other organs. The genetic cause behind hEDS is yet not known. We aim to find clinical correlates and genetic markers of hEDS in affected individuals found in the large familial cohorts of Avalon Longitudinal Study of Parents and Children (ALSPAC) and Born in Bradford (BiB). Clinical data and genetic information of individuals matching diagnostic criteria of hEDS will be sought and their clinical symptoms and genetic signatures (variants) compared with other individuals with no symptoms. Through a quality control process only the highly probable variants will be prioritized and their role in disease characterized. This proof-of-concept will be tested in future at QMUL in families with hEDS patients in multiple generations. Availability of clinical and genetic screening will pave way to early diagnosis and more holistic treatment approaches to improve health and quality of life in these patients.

Impact of research: 
The research is aimed for identifying the genetic basis of a common heritable connective tissue disorder (hEDS). The impact of knowing a genetic cause to a heritable disease has huge scope in diagnostic, prognostic and management strategies. This will help in establishing a genetic testing service for hEDS patients. Providing a definite diagnosis to a category of patients hitherto either often categorized as unexplained medical disorders will be a major step in legitimizing their complaints, leading to earlier diagnosis and better management strategies leading to improved patient outcomes and quality of life and health care savings for the NHS.
Date proposal received: 
Monday, 12 November, 2018
Date proposal approved: 
Tuesday, 13 November, 2018
Keywords: 
Molecular genetics and genomics, Congenital abnormalities, Gastrointestinal, GWAS, Microarrays, Epigenetics, Genetics, Genomics, Genome wide association study, Whole genome sequencing