Studies

RNA phenotyping in Ataxia telangiectasia

Speciality area
Neurological Disorders, Genomics and Rare Diseases

Study type
Participant re-contact

Researcher type
Academic

Research lead
Rita Horvath and Anke Hensiek

Molecular mechanisms of Neuroferritinopathy

Speciality area
Neurological Disorders, Genomics and Rare Diseases

Study type
Participant re-contact

Researcher type
Academic

Research lead
Patrick Chinnery

Applying transcriptomic data to identify novel genes and disease clusters in congenital neutropenia

Speciality area
Genomics and Rare Diseases, Haematology

Study type
Participant re-contact

Researcher type
Academic

Research lead
Sarah Westbury

RNA phenotyping in C3 glomerulopathy

Speciality area
Kidney Disorders, Genomics and Rare Diseases

Study type
Participant re-contact

Researcher type
Academic

Research lead
Daniel Gale

Identification of novel genetic causes of ocular maldevelopment

Speciality area
Genomics and Rare Diseases

Study type
Participant re-contact

Researcher type
Academic

Research lead
Mariya Moosajee

RNA phenotyping in blood cell autoimmunity

Speciality area
Genomics and Rare Diseases, Haematology

Study type
Participant re-contact

Researcher type
Academic

Research lead
Nichola Cooper

RNA phenotyping in primary biliary cholangitis

Speciality area
Genomics and Rare Diseases, Liver

Study type
Participant re-contact

Researcher type
Academic

Research lead
George Mells

Very early Intervention through RNA analysis on Leukocytes in Scleroderma

Speciality area
Genomics and Rare Diseases

Study type
Participant re-contact

Researcher type
Academic

Research lead
Francesco Del Galdo

The leukocyte RNA imprint of splicing-factor retinitis pigmentosa

Speciality area
Genomics and Rare Diseases

Study type
Participant re-contact

Researcher type
Academic

Research lead
Andrew Webster