Studies

Genome Medicine for inherited platelet disorders

Speciality area
Haematology, Genomics and Rare Diseases

Study type
Data only

Researcher type
Academic

Research lead
Fabienne Ver Donck

Genetic variAtioN anD Altered Leukocyte Function in health and disease (GANDALF) – molecular mechanisms underlying non-coding locus associations

Speciality area
Genomics and Rare Diseases, Haematology

Study type
Data only

Researcher type
Academic

Research lead
Dr James Lee

Pathogenicity prediction of genetic variants to improve detection rate of rare disease diagnosis

Speciality area
Genomics and Rare Diseases

Study type
Data only

Researcher type
Commercial

Research lead
Changwon Keum

Machine learning in neovascular age-related macular degeneration

Speciality area
Ophthalmology, Genomics and Rare Diseases

Study type
Data only

Researcher type
Academic

Research lead
Konstantinos Balaskas

Genetic variation in colitis-associated colon cancer

Speciality area
Genomics and Rare Diseases, Gastroenterology

Study type
Data only

Researcher type
Academic

Research lead
Adam Levine

RNA phenotyping in heritable platelet disorders

Speciality area
Haematology, Genomics and Rare Diseases

Study type
Participant re-contact

Researcher type
Academic

Research lead
Andrew Mumford, Sarah Westbury

RNA phenotyping in unexplained inherited thrombosis

Speciality area
Haematology, Genomics and Rare Diseases

Study type
Participant re-contact

Researcher type
Academic

Research lead
Suthesh Sivapalaratnam 

RNA phenotyping in inherited optic neuropathies

Speciality area
Genomics and Rare Diseases

Study type
Participant re-contact

Researcher type
Academic

Research lead
Patrick Yu Wai Man

RNA phenotyping in newly diagnosed and flare giant cell arteritis

Speciality area
Genomics and Rare Diseases

Study type
Participant re-contact

Researcher type
Academic

Research lead
Ann Morgan