Studies

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 early progressive lung disease

Speciality area
Respiratory Disorders, Genomics and Rare Diseases

Study type
Participant re-contact

Researcher type
Academic

Research lead
Alice Turner

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 SAPHO/CNO/CRMO inflammatory conditions

Speciality area
Musculoskeletal Disorders, Genomics and Rare Diseases

Study type
Participant re-contact

Researcher type
Academic

Research lead
Judith Bubbear

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 

Neuropathic Pain Disorders (access to 'Chromoscope' data platform)

Speciality area
Genomics and Rare Diseases, Dementias and Neurodegeneration, Neurological Disorders

Study type
Data only

Researcher type
Academic

Research lead
Dr Andreas Themistocleous

UKIBDGC - genetics of prognosis in Crohn's disease and ulcerative colitis

Speciality area
Gastroenterology, Genomics and Rare Diseases

Study type
Data only

Researcher type
Academic

Research lead
James Lee

Investigation into potential role for terminal degrons in PID (access to 'Chromoscope' data platform)

Speciality area
Genomics and Rare Diseases, Infection

Study type
Data only

Researcher type
Academic

Research lead
Dr Richard Timms

Genome wide identification of CTCF site disruption resulting in aberrant enhancer: promoter interactions as a recurrent mechanism of human disease

Speciality area
Genomics and Rare Diseases, Neurological Disorders

Study type
Data only

Researcher type
Academic

Research lead
Dr Christopher Cummings