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Patient registries

Below you will find links to patient registries for some genetic conditions, this list is not exhaustive, and there may be relevant registries not listed here.

If you have a genetic condition, being on a patient registry is one way for researchers to contact you about participation in research projects.

The NIRGS is not involved in managing or curating any of these patient registries, and these links are simply for signposting to services published online.


  • Birt-Hogg-Dube Syndrome

    In partnership with Pulse Infoframe, the Myrovlytis Trust and BHD Foundation have launched a BHD Syndrome International Registry (BIRT).

  • COL6-related dystorphies

    The Global Registry for COL6-related dystrophies is a database for individuals who have been diagnosed with Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy (UCMD) or an intermediate form of these diseases. The registry team is based at the John Walton Muscular Dystrophy Research Centre at  Newcastle University, UK and is part of the TREAT-NMD alliance global network of registries.  The registry has been developed in partnership with a number of leading neuromuscular researchers and is funded by the Collagen VI Alliance.

  • Friedreich’s Ataxia

    The Friedreich’s Ataxia Global Patient Registry (FAGPR) was launched in November 2019. The FAGPR has been developed by global charities supporting people with FA, including Ataxia UK, to be the international registry for FA research.

  • PTEN Hamartoma Tumor Syndrome

    PTEN Hamartoma Tumour Syndrome (PHTS) Patient Registry

    In April 2019 Cambridge University secured funding from the PTEN Research Foundation to create the UK’s first PTEN patient registry alongside the University of Edinburgh and University Hospitals Southampton.