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 Professor Aftab Ala PhD FRCP, Consultant Hepatologist, Kings College Hospital, London.
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. Reports from meetings are available below along with presentation slides.
Alpha-1 Antitrypsin Deficiency (Alpha-1) and Haemochromatosis are 2 new sub-SIGs of the Rare Diseases SIG, read more below.
If anyone wishes to join the Rare Diseases SIG please contact the BASL Secretariat on sigs@basl.org.uk and advise which sub-SIG you are interested in joining:
- Alpha-1 Antitrypsin Deficiency
- Haemochromatosis
- Wilson's Disease
BASL Rare Disease SIG and Polycystic liver disease
The UK polycystic liver disease registry, which forms part of the overall international PLD registry, was launched earlier this year. This is the first major study into PLD in the UK with the aim of mapping the natural course of the disease and will hopefully lead to new insights and treatment options for patients with PLD. The study is led by Portsmouth Hospitals University NHS Trust who are looking to expand the study to as many UK sites as possible. Alongside the registry we hope to encourage further study and collaboration for patients with ductal plate malformation disorders within the BASL Rare Diseases SIG.
More information on the UK PLD registry can be found at:
For further information on the study or to register your interest in joining please contact the study team.
Study co-ordinator: Dr Benjamin Giles, Benjamin.giles@porthosp.nhs.uk
Chief investigator: Dr Richard Aspinall, Richard.aspinall@porthosp.nhs.uk
Alpha-1 Antitrypsin Deficiency (A1ATD) sub-SIG
An Alpha-1 Antitrypsin Deficiency (A1ATD) sub-SIG is being set up under the Rare Diseases SIG. The group will be led by Dr Tamir Rashid read more below.
Several recent publications provide the evidence base for what Hepatologists have spoken about for many years:
(1) Alpha1 Antitrypsin deficiency related liver disease is massively underdiagnosed
(2) liver pathology occurs in patients with heterozygous as well as homozygous genotypes
(3) prognostic biomarkers to discriminate between patients who end up needing a liver transplant and those whose disease remains quiescent are lacking.
In parallel to these population-based studies, advances in the basic molecular understanding of Alpha1 have resulted in over 20 companies developing novel therapeutic technologies, several of which are about to enter / have already entered late-stage clinical trials.
These combined developments represent exciting times for Alpha1 medicine and patients but also necessitate Hepatologists to be armed with a new set of tools in preparation for what is likely to become a significant component to our clinical workload over the coming years.
To address this challenge, we have formed a sub-special interest group which will sit under the Rare Disease SIG, the sub-SIG’s objectives, amongst other things, will be to (1) develop a national registry of patients (2) establish guidelines for the diagnosis and management of patients and (3) facilitate multi-centre studies for identification of disease modifiers and evaluating new medicines.
It is intended this initiative will be carried out in collaboration with our Respiratory colleagues, Public Health England, existing related initiatives already running in the US and across Europe and closely informed by the needs of patients.
Please forward any expressions of interest to join the sub-SIG to the BASL Secretariat sigs@basl.org.uk or sign into the members area of the website and select Alpha-1.
References (PMID numbers): 32675199; 33632708; 30068662; 32376409; 29573137; 31121167; 32697896
Alpha-1 sub-SIG minutes
Please find attached the minutes for the Alpha-1 sub-SIG meeting 17 November 2022.
Haemochromatosis sub-SIG
A Haemochromatosis sub-SIG is set up under the Rare Diseases SIG. The group is led by Dr Jeremy Shearman (Consultant Gastroenterologist/Hepatologist at Warwick). The main specialties involved will be gastro/hep, haematology and rheumatology.
Haemochromatosis is not in itself a rare disease but we know that only a small fraction of those at genetic risk are currently receiving care and monitoring in UK hospitals. Care of these patients may be shared across a number of clinical specialties – hepatologists, gastroenterologists and haematologists. In recognition of the challenges presented by this condition BASL is supporting the development of a sub-Special Interest Group. This group will sit under the Rare Diseases Special Interest Group and will encompass BASL, BSG, BSH in addition to interested individuals from other relevant professional bodies and patient organisations.
Venesection treatment in haemochromatosis – current best practice from the BSG/BASL Special Interest Group
The link for open access to the article is through the website and can be found >
(flgastro- 2025-103172)
Haemochromatosis sub-SIG meeting - June 2023 - June 2024
8 June 2023
Presentation slides and discussion points from the meeting:
7 March 2024
Presentation slides and discussion points from the meeting:
13th June 2024
Presentation slides and discussion points from the meeting:
Wilson's Disease video to raise awareness about early diagnosis
A 5 minute video by the Wilson Disease SIG core members to raise awareness about early diagnosis, to view on YouTube
Wilson's Disease – Guidelines
BASL Investigation and management of Wilson's Disease full guidance:
Published in Lancet Global Health (who are happy for the article to be made accessible via society websites), view website and the (abridged) Lancet publication below:
Wilson's Disease – Resources
Wilson Disease NHSE Specialist Centre expertise - 16.11.2020
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 .
Presentation on New trientine formulations - Rupert Purchase - University of Sussex, Brighton:
Presentation on NHSE genomic medicine service - Miranda Durkie, Lead Clinical Scientist in Gastrohepatology, Yorkshire & North East GLH – Sheffield:
Shared care guideline for trientine
Wilson's Disease Meetings 2022 – Reports
Meeting 25 November 2022
Meeting minutes –
Presentation –
Presentation –
Meeting 24 November 2023
Meeting notes:
Wilson's Disease Meetings 2017–2021 – Reports
Meeting Reports
Meeting 1 - 14 December 2017
Meeting report -
Meeting 2 - 14 June 2018
Meeting report -
Presentation on Estimating national Wilson’s disease prevalence rates: Exploring the utility of clinical and routinely collected data, Jeanette Aston, PHE -
Presentation on DNA/RNA therapies for Wilson’s Disease, Julien Baruteau, UCL -
Presentation on biochemical monitoring, Paul Cook, University Hospital Southampton -
Presentation on measurement techniques, Chris Harrington, SAS Trace Element Laboratory, Guildford -
Presentation on Wilson’s Disease in children, Professor Deirdre Kelly, Dr Indra van Mourik and Carla Lloyd, Birmingham Women’s & Children’s Hospital -
Presentation on paediatric specific issues for Wilson's Disease screening and monitoring, Dr Indra van Mourik, Birmingham Women’s & Children’s Hospital -
Meeting 3 - 14 February 2019
Meeting report -.
Meeting 4 - 29 November 2019
Meeting report - .
Meeting 5 - 20 November 2020
Meeting Report -
Meeting 6 - 19 November 2021
Meeting Report -
Annual reports
