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 of Addenbrookes Hospital, Cambridge.

The Wilson's Disease Group 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 twice thus far in December 2017 and June 2018. Reports from those meetings will be 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.   


Wilson's Disease Standards Document - 31.03.20 

Download WD SIG Standards.pdf

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.

1st meeting - 14 December 2017

Meeting report - Download BASL Wilson SIG Meeting 14 Dec 2017 Report1.pdf

2nd meeting - 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

3rd meeting - 14 February 2019

Meeting report - Download Wilsons Disease SIG meeting 14.2.19 minutes.pdf.

4th meeting - 29 November 2019

Meeting report -  Download Wilson SIG meeting 29.11.19 minutes_FINAL.pdf.


Save the Date - Wilson's Disease Group next meeting Friday 20th November , venue Queens Square, UCL, London.  More details to follow. 

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