Studies

Pulmonary Arterial Hypertension Associated ATP13A3 Mutations

Speciality area
Cardiovascular Disease, Genomics and Rare Diseases

Study type
Participant re-contact

Researcher type
Non-commercial

Research lead
Prof. Nick Morrell

IBD-Boost Survey: fatigue pain and urgency in IBD

Speciality area
Gastroenterology

Study type
Participant re-contact

Researcher type
Non-commercial

Research lead
Prof. Christine Norton

NOVID – Role of DNA non-coding variants in von Willebrand disease

Speciality area
Genomics and Rare Diseases, Haematology

Study type
Samples and data

Researcher type
Non-commercial

Research lead
Prof. Mike Laffan

Genotype and Phenotype in Inherited Neurodegenerative Diseases

Speciality area
Neurological Disorders

Study type
Samples and data

Researcher type
Non-commercial

Research lead
Prof. Patrick Chinnery

Internal study code for generation of genetic data - Thermofisher Affymetrix UK Biobank V2.1

Speciality area
Genomics and Rare Diseases

Study type
Data only

Researcher type
Non-commercial

Research lead
Dr Jyoti Khadake

Genes and Cognition

Speciality area
Neurological Disorders, Ageing

Study type
Participant re-contact

Researcher type
Non-commercial

Research lead
Prof. Patrick Chinnery

Assessing whole genome sequencing as a diagnostic test for mitochondrial disease.

Speciality area
Genomics and Rare Diseases

Study type
Samples and data

Researcher type
Non-commercial

Research lead
Prof. Patrick Chinnery

Crohn’s Anal Fistula Quality of Life Scale

Speciality area
Gastroenterology

Study type
Participant re-contact

Researcher type
Non-commercial

Research lead
Dr Alisa Hart

Molecular investigation of genetic factors in cardiovascular and immune-related traits and diseases using a bioresource of healthy volunteers (GENBIO)

Speciality area
Cardiovascular Disease

Study type
Participant re-contact

Researcher type
Non-commercial

Research lead
Dr Dirk Paul