Studies

Genotype-phenotype relationships in patients with idiopathic pulmonary arterial hypertension / investigating variants in other rare forms of pulmonary hypertension in patients from the Royal Hallamshire Hospital, Sheffield

Speciality area
Cardiovascular Disease, Genomics and Rare Diseases

Study type
Data only

Researcher type
Academic

Research lead
Allan Lawrie

Steroid resistant nephrotic syndrome (SRNS) - access to Gene Docs application

Speciality area
Kidney Disorders

Study type
Data only

Researcher type
Non-commercial

Research lead
Dr Amy Osborne

BRIDGE Bleeding and Platelet Disorders study

Speciality area
Haematology, Genomics and Rare Diseases

Study type
Data only

Researcher type
Academic

Research lead
Ernest Turro

Progressing from Genetics to Function and Clinical Translation in Crohn’s Disease & Ulcerative Colitis

Speciality area
Gastroenterology, Genomics and Rare Diseases

Study type
Data only

Researcher type
Academic

Research lead
Carl Anderson

von Wiilebrand factor - access to Gene Docs application

Speciality area
Genomics and Rare Diseases, Haematology

Study type
Data only

Researcher type
Non-commercial

Research lead
Dr Reuben Bierings

Whole Genome Sequencing and Analysis to identify new isease genes for hypertrophic cardiomyopathy

Speciality area
Cardiovascular Disease, Genomics and Rare Diseases

Study type
Data only

Researcher type
Non-commercial

Research lead
Dr Ashley Pritchard

PMG (Primary Membranoproliferative glomerulonephritis and C3 Glomerulopathy)

Speciality area
Kidney Disorders, Genomics and Rare Diseases

Study type
Data only

Researcher type
Non-commercial

Research lead
Prof. John Armour

NDD, LHON - access Gene Docs application

Speciality area
Children and Young People, Neurological Disorders

Study type
Data only

Researcher type
Non-commercial

Research lead
Prof. Lucy Raymond

Idiopathic Nephrotic Syndrome

Speciality area
Kidney Disorders, Genomics and Rare Diseases

Study type
Data only

Researcher type
Non-commercial

Research lead
Dr Amy Osborne