NBR194 - INtegrative Translational ResEarch in Primary ImmunoDeficiency (INTREPID)
Study code
NBR194
Lead researcher
Prof. Ken Smith
Study type
Samples and data
Institution or company
University of Cambridge (Cambridge Institute of Therapeutic Immunology and Infectious Disease)
Researcher type
Academic
Speciality area
Infection, Genomics and Rare Diseases
Recruitment Site
N/A (samples only)
Summary
Primary immunodeficiencies (PID) are a group of rare disorders that affect at least 1 in 350 people in the UK.
PID encompass a spectrum of genetic diseases that can underlie susceptibility to life threatening infections, autoimmune diseases and some cancers. Variability in PID symptoms and severity makes it challenging to achieve the specific diagnoses required for the care for individual patients.
Recently, we showed that combining clinical and genetic knowledge of 886 PID patients reveals novel genetic causes and aids diagnosis.
The INTREPID project will extend this approach by increasing the depth of genetic, clinical and molecular measurements collected across an expanded cohort of PID patients, and combine these measurements to characterise the molecular events that are responsible for specific forms of PID.