Rare Diseases Special Interest Group
Rare Diseases Special Interest Group
Wilson’s Disease is now part of the Rare Diseases Special Interest Group (SIG). The SIG is linked to the Metabolic CRN topic area and the SIG Lead is Dr Bill Griffiths, Consultant Hepatologist, Addenbrookes Hospital, Cambridge.
Wilson's Disease was the first SIG to be established by BASL. The Wilson’s Disease Group comprises a variety of clinical and laboratory specialists from around the UK, Public Health England and patient representation from the Wilson’s Disease Support Group. Its aims are to foster closer collaboration for clinical and scientific research, provide a forum to discuss and disseminate best practice, and act as a stimulus towards Centres of Excellence for Wilson’s disease. The group has met four times thus far; December 2017, June 2018 and twice in 2019. Reports from meetings are made available along with presentation slides.
Alpha-1 antitrypsin deficiency (Alpha-1) is soon to become a group under the Rare Diseases SIG and more information will follow.
If anyone wishes to join the Rare Diseases SIG please contact the BASL secretariat on Kim@basl.org.uk and advise if you are interested in joining both groups or Wilson's Disease or Alpha-1.
Resources
Wilson Disease NHSE Specialist Centre expertise - 16.11.2020
Download Wilson Disease NHSE Specialist Centre expertise Nov 2020.pdf
Wilson's Disease Standards Document - 31.03.20
Wilson's Disease Support Group UK
The WDSG-UK provides patient representation on the SIG. It is an all volunteer organisation, which strives to promote the well-being of patients with Wilson's Disease, and their families and friends. Visit the group's website at http://www.wilsonsdisease.org.uk .
Annual reports
Annual report 2017-18 - Download Annual report_2017-18_Wilsons Disease SIG.pdf.
Annual report 2018-19 - Download Annual report_2018-19_Wilsons Disease SIG.pdf.
Meetings Reports
Meeting 1 - 14 December 2017
Meeting report - Download BASL Wilson SIG Meeting 14 Dec 2017 Report1.pdf
Meeting 2 - 14 June 2018
Meeting report - Download BASL Wilson SIG meeting 14 June report.pdf
Presentation on Estimating national Wilson’s disease prevalence rates: Exploring the utility of clinical and routinely collected data, Jeanette Aston, PHE - Download MB JA BASL Wilsons SIG meeting 20180614.pdf
Presentation on DNA/RNA therapies for Wilson’s Disease, Julien Baruteau, UCL - Download Baruteau_Gene therapy for Wilson.2.pdf
Presentation on biochemical monitoring, Paul Cook, University Hospital Southampton - Download Biochemical monitoring.pdf
Presentation on measurement techniques, Chris Harrington, SAS Trace Element Laboratory, Guildford - Download BASL-June 2018-web.pdf
Presentation on Wilson’s Disease in children, Professor Deirdre Kelly, Dr Indra van Mourik and Carla Lloyd, Birmingham Women’s & Children’s Hospital - Download Wilsons Disease in children.pdf
Presentation on paediatric specific issues for Wilson's Disease screening and monitoring, Dr Indra van Mourik, Birmingham Women’s & Children’s Hospital - Download Paediatric specific issues for Wilsons Disease screening and monitoring.pdf
Meeting 3 - 14 February 2019
Meeting report - Download Wilsons Disease SIG meeting 14.2.19 minutes.pdf.
Meeting 4 - 29 November 2019
Meeting report - Download Wilson SIG meeting 29.11.19 minutes_FINAL.pdf.
Meeting 5 - 20 November 2020
Meeting Report - Download WD SIG 20 11 20 meeting minutes.pdf
Download Trientine Formulations in the UK (2020).pdf
Presentation on New trientine formulations - Rupert Purchase - University of Sussex, Brighton:
Download WD-SIG trientine slides RP.pdf
Presentation on NHSE genomic medicine service - Miranda Durkie, Lead Clinical Scientist in Gastrohepatology, Yorkshire & North East GLH – Sheffield:
Download NHSE genomic medicine service.pdf
Shared care guideline for trientine - Download Shared care guideline for trientine Cambridge-Eastern.pdf
News
The tenure of the current BASL Wilson's Disease Group Lead has come to an end and nominations are invited to Lead the group.
Wilson’s Disease sits under the Rare Diseases SIG and the SIG Lead will lead the SIG and the Wilson's Disease Group. The elected Lead will serve for two years.
Eligibility and Process
- All nominees for the position should be members of the Wilson’s Disease Group and a BASL member.
- Each nominee requires a proposer and a seconder to support their nomination - the proposer and seconder must be a BASL member and/or a member of the Wilson’s Disease Group.
- To nominate a member the proposer needs to email judy@basl.org.uk and the seconder needs to endorse this nomination.
- Should there be more than one candidate a personal statement from the candidates will be requested and the Wilson's Disease Group members will vote.
Deadline - please send your nominations to the BASL Secretariat to judy@basl.org.uk by 09:00 Friday 26th February 2021.
