Steroid Resistant Nephrotic Syndrome (access to ‘Chromoscope’ data platform)

Study code

Lead researcher
Dr Amy Osborne

Study type
Data only

Institution or company
University of Bristol

Researcher type

Speciality area
Kidney Disorders, Genomics and Rare Diseases

Recruitment Site
Not applicable (data only)


Nephrotic syndrome is a kidney disorder that causes the body to pass too much protein in its urine. It is usually caused by damage to small blood vessels inside the kidneys that filter (clean) waste and excess water from the blood. The condition causes swelling; particularly in the feet and ankles and increases the risk of other health complications.

Steroid-Resistant Nephrotic Syndrome (SRNS) is a rare hereditary form of the disease that is more challenging to treat as sufferers often fail on the standard immunosuppression (e.g. steroid) treatments and have a higher likelihood of the condition progressing to end-stage renal disease over time and the need for kidney transplantation.

There are currently ~60 genes known to be associated with hereditary SRNS. The researchers behind this study are looking to further understand the genetic basis of this condition through accessing data on genotypes related to SRNS held on the University of Cambridge’s 'Chromoscope’* data platform.


* ‘Chromoscope’ is a data platform used by researchers wishing to analyse rare genetic variants. For the NIHR Bioresource Rare Disease Project, DNA from consenting participants was collected and their genetic information was stored for future research use.  In order for this data to be anonymously accessed for research purposes the NIHR BioResource created an application called ‘Chromoscope’ (previously known as ‘Gene Docs’).  ‘Chromoscope’ allows approved researchers to access this genetic data. Before access is given researchers must submit an application to the NIHR BioResource requesting access. The BioResource reviews these applications and if approved, researchers are given access to the required anonymised data.