By health condition
By demographic
Each summary is provided by the external research team. The views expressed may not reflect those of the NIHR BioResource.
We’ve also created a few study collections:
Studies 64-72 of 108
Investigating polygenic risk for immune-mediated disease in a sporadic primary immunodeficiency cohort.
Speciality areaGenomics and Rare Diseases
Study typeData only
Researcher typeAcademic
Research leadHannah Huang
BRIDGE- EDS (Ehlers-Danlos Syndrome)
Research leadHeather Cordell
Genetic Links to Anxiety and Depression (GLAD) Study
Speciality areaGenomics and Rare Diseases, Mental Health
Research leadGerome Breen
Paediatric Bone Marrow Failure Syndromes (Stem Cell and myeloid disorders)
Speciality areaGenomics and Rare Diseases, Children and Young People
Research leadProf. Adam Mead
To evaluate the
Speciality areaGenomics and Rare Diseases, Cardiovascular Disease
Research leadDr Rachel Ong
CGG trinucleotide short-tandem repeats in unexplained intellectual disability
Speciality areaGenomics and Rare Diseases, Neurological Disorders
Research leadDr Dale Annear
To access and provide NIHR BioResource Rare Disease Genomes across all eligible disorders within the Genomics England Research Environment as an anonymised dataset alongside the 100,000 Genomes Project main programme data
Research leadMark Caulfield
Genetic architecture of blood cell cytometry phenotypes
Speciality areaGenomics and Rare Diseases, Haematology
Research leadMr Parsa Akbari
Genotype-phenotype relationships in patients with idiopathic pulmonary arterial hypertension / investigating variants in other rare forms of pulmonary hypertension
Speciality areaCardiovascular Disease, Genomics and Rare Diseases
Research leadDr Allan Lawrie
