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 46-54 of 108
RNA phenotyping in mitochondrial diseases
Speciality areaGenomics and Rare Diseases, Neurological Disorders
Study typeParticipant re-contact
Researcher typeAcademic
Research leadPatrick Chinnery
Investigating the risk of progressive kidney disease
Speciality areaKidney Disorders, Genomics and Rare Diseases
Research leadJonathan Barratt
RNA phenotyping in early progressive lung disease
Speciality areaRespiratory Disorders, Genomics and Rare Diseases
Research leadAlice Turner
RNA phenotyping in SAPHO/CNO/CRMO inflammatory conditions
Speciality areaMusculoskeletal Disorders, Genomics and Rare Diseases
Research leadJudith Bubbear
Neuropathic Pain Disorders (access to 'Chromoscope' data platform)
Speciality areaGenomics and Rare Diseases, Dementias and Neurodegeneration, Neurological Disorders
Study typeData only
Research leadDr Andreas Themistocleous
UKIBDGC - genetics of prognosis in Crohn's disease and ulcerative colitis
Speciality areaGastroenterology, Genomics and Rare Diseases
Research leadJames Lee
Investigation into potential role for terminal degrons in PID (access to 'Chromoscope' data platform)
Speciality areaGenomics and Rare Diseases, Infection
Research leadDr Richard Timms
Genome wide identification of CTCF site disruption resulting in aberrant enhancer: promoter interactions as a recurrent mechanism of human disease
Research leadDr Christopher Cummings
Molecular Pathology of Human Genetic Disease
Research leadAvgi Andreou
