Rare Disease Group

To improve our understanding of kidney stone formation in Cystinuria, develop best practice in the care of patients with this condition and to develop new ways to prevent and treat Cystinuria.

  • Building up a national patient registry through RaDaR
  • Establishment of a national genetic Cystinuria screening service
  • Developing patient information material on Cystinuria
  • Development of new molecular models to understand why and how Cystinuria develops

Pending

Cystinuria UK

The latest Cystinuria Patient Day took place on Saturday March 30th 2019 at Guy’s Hospital, London For more information please visit www.cystinuriauk.co.uk/patient-day

Events have previously taken place in London (2014), Bristol (2015) Newcastle (2016) and London (2017).

Cystinuria RDG Annual Report 2019 – 2020

RDG Lead(s)
  • Richard Coward, Paediatric Nephrologist, Bristol Children’s Hospital RDG Co-Lead
  • Kay Thomas, Adult Urologist, Guy’s and St Thomas’ Hospital RDG Co-Lead
Patient representative(s)
Other members
  • Hannah Rhodes, Paediatric Surgeon and PhD Fellow, Bristol Children’s Hospital and Bristol University
  • John Sayer, Physician, Newcastle
  • Sarah Smithson, Geneticist, Bristol Children’s Hospital
  • Charlie Tomson, Physician, Southmead Hospital, Bristol
  • Maggie Williams, Senior Scientist Genetics, Southmead Hospital, Bristol
  • Mark Woodward, Paediatric Urologist, Bristol Children’s Hospital

None reported