ADTKD – RDG
- Aims of the Group
The group was established as part of the RaDaR initiative, in light of the increasing numbers of families being identified with this syndrome and following the pioneering work undertaken by Dr Anne Simmonds and others in the Purine Laboratory at Guy’s Hospital, London.
- Current Activities
On Saturday 23rd March 2013 a FUAN Patient Support meeting was held at St Thomas’ Hospital London. A report of the event can be found here.
An ADTKD/UMOB Patient Information Day was held in Cambridge on Saturday 15th Septenber 2018. A summary and photos of the event can be found below.
- International Links
Group members will offer to collaborate with other groups such as the European Network for the Study of Orphan Nephropathies (EUNEFRON) and the ERA-EDTA Working Group on Inherited Kidney Disorders (WGIKD)
Our international contacts are:
- Dr Stanislav Kmoch, Centre for Applied Genomics, Institute for Inherited Metabolic disorders, Charles University, Prague, Czech Republic
- Dr Anthony J. Bleyer, Professor, Section on Nephrology, Wake Forest University School of Medicine Winston-Salem, NC 27157, USA
- Patient Support Groups
Members of this group are linked to PUMPA (the Purine Metabolic Patients Association) which has a strong patient representation as well as medical experts.
Connor TM et al. 2017 Mutations in mitochondrial DNA causing tubulointerstitial kidney disease, PLoS Genet, Mar 7;13(3):e1006620
Gast, C et al. 2016 Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis, Nephrol Dial Transplant, 31: 961
Venkat, R., 2016 From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis, Pediatr Nephrol, 31:2035142
- Group Members
- Colin Aiken, Patient Representative
- Dr Bridget Bax, Clinical Sciences, St George’s University, London
- Dr Sarah Ennis, Human Genetics and Genomic Medicine, University of Southampton
- Dr Christine Gast, Queen Alexandra Hospital, Portsmouth
- Dr Rodney Gilbert, Southampton General Hospital
- Prof. Fiona Karet, Cambridge Institute for Medical Research, Addenbrooke’s Hospital RDG Co-Lead
- Dr Anthony Marinaki, St Thomas’ Hospital, London
- Prof. Patrick Maxwell, Rayne Institute, London
- Dr Shabbir Moochhala, Centre for Nephrology, Royal Free Hospital, London
- Dr John Sayer, Institute of Genetic Medicine, Newcastle University RDG Co-Lead
- Prof. Rajesh Thakker, Professor of Medicine, Nuffield Department of Medicine, University of Oxford
- Prof. Robert Unwin, Centre for Nephrology, Royal Free Campus and Hospital, London
- Denise Yelverton, Patient Representative
- Disclosure of Conflicts of Interest
Written by the ADTKD Rare Disease Group