Studies

Discovery of metabolite biomarkers in rare diseases

Speciality area
Genomics and Rare Diseases

Study type
Data only

Researcher type
Academic

Research lead
Dr Leonardo Bottolo

Genome-wide association studies of circulating blood metabolites

Speciality area
Haematology

Study type
Data only

Researcher type
Academic

Research lead
Prof. Tim Spector

Investigating the systems used to determine blood groups in the UK and validating a new system to ascertain human blood groups to a clinical standard

Speciality area
Haematology

Study type
Data only

Researcher type
Academic

Research lead
Professor Willem Ouwehand

Cholesterol efflux pathways in monocytes and the genetic risk of atherosclerosis

Speciality area
Cardiovascular Disease

Study type
Data only

Researcher type
Academic

Research lead
Professor Martin Bennett

Hypertropic Cardiomyopathy (HCM)

Speciality area
Cardiovascular Disease, Genomics and Rare Diseases

Study type
Data only

Researcher type
Academic

Research lead
Hugh Watkins

Steroid Resistant Nephrotic Syndrome (SRNS)

Speciality area
Kidney Disorders, Genomics and Rare Diseases

Study type
Data only

Researcher type
Academic

Research lead
Ania Koziell

The role of mitochondrial DNA variants in common disease

Speciality area
Genomics and Rare Diseases

Study type
Data only

Researcher type
Academic

Research lead
Patrick Chinnery

Identifying the molecular basis of congenital anaemias presenting in isolation or as bone marrow failure due to multilineage involvement (stem cell disorders)

Speciality area
Genomics and Rare Diseases, Haematology

Study type
Data only

Researcher type
Academic

Research lead
Christian Babbs

Cerebral Small Vessel Disease

Speciality area
Genomics and Rare Diseases, Stroke

Study type
Data only

Researcher type
Academic

Research lead
Dr Stefan Graf