Rare Disease Group
The group aims to advance our knowledge of Dent Disease and Lowe Syndrome by:
- establishing a registry of patients
- developing clinical guidelines regarding diagnosis and treatment
- providing a platform for clinical and molecular research into these disorders
- empowering affected patients and their families by facilitating contacts between patient/families and by the development of educational material
Condition-specific data fields for Dent & Lowe patients in the RaDaR rare disease registry are currently being coded.
- Prof Michael Ludwig, German Lowe/Dent patient registry
- Dr Arend Bokenkamp, Dutch Lowe/Dent patient registry
- Dr Lada Beasic, US registry for Dent disease
The Lowe Trust supports families and initiates and funds medical research into Lowe Syndrome.
Publications
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort. Zaniew, M. et al (2016) Nephrol Dial Transplan.
Reports
- Dr Detlef Bockenhauer, UCL Institute of Child Health and Great Ormond Street Hospital London RDG Lead
- Prof Helen Cross, UCL Institute of Child Health, London
- Prof Robert Kleta, UCL Institute of Child Health, London
- Ms Isabelle Russell-Eggitt, Great Ormond Street Hospital, London
- Dr Jenny Shorto, Manchester Regional Genetics Services, St Mary’s Hospital, Manchester
- Prof Rajesh Thakker, Radcliffe Department of Medicine, University of Oxford
- Dr Andrew Wallace, Manchester Regional Genetics Services, St Mary’s Hospital, Manchester
None reported
