Resources and Medical Papers

These are articles and external links to the websites of organisations that are carrying out research and other medical work into different aspects of Wolfram Syndrome, that you might be interested in.

Resources
Medical Papers and Information

Resources

Uncovering a Milder Wolfram Syndrome Variant in Jewish Populations – Dr Fumihiko Urano – Nov 2024. Here are the links to three blogs that Dr Urano has written about the Ashkenazi variant of WS which is a form of the syndrome: Part 1 Part 2 Part 3 Part 4
Genetic Alliance UK – Stats Behind the Stories – 29th February 2024
England Rare Diseases Action Plan 2024 – Main report. On 29th Feb 2024 Government published its third Action Plan to deliver the UK Rare Diseases Framework. With 2 more years to go for the Framework, this is a crucial year.
T-KASH Transition Resources– September 2023 – T-KASH (Transition – Knowledge And Skills in Healthcare) are FREE resources which were originally created in 2015 by young people from the Alström Syndrome UK (ASUK), Hear My Voice Youth Forum. The resources are designed to support young people, families, and healthcare professionals, to help everyone understand the transition journey and the things that are important to young people. At the end of 2022, we began the process of updating the T-KASH resources to ensure they are inclusive and represent the needs of young people within the rare disease community.
COORDINATING CARE: Learning from the experiences of people living with rare conditions – A new report released on 28th February 2023
Diabetes Action Now – is a joint initiative of the World Health Organization and the International Diabetes Federation.
Diabetes UK – Link to information about Pumps/Aids.
Dexcom – Link to information about Dexcom Monitoring.
DiabetesGenes Prof Andrew Hattersley’s team brings together researchers working in molecular genetics, human physiology, biochemistry, clinical investigation, and patient care.Their ground-breaking work in monogenic diabetes (diabetes caused by a change in a single gene) has received over 30 national and international prizes and more than £26M in funding since 2009.
Wolfram Syndrome Research AllianceFounded by parents of children with Wolfram syndrome, WSRA seeks to promote international collaboration among researchers, clinicians, and the Wolfram community to ensure timely and meaningful outcomes of WS research.
Wolfram Syndrome & Dysphagia Leaflet What is Dysphagia and what to look out for
Wolfram Syndrome Registry Site at Washington University Educational information and research (US)
At the 2014 WS Conference Dr Liz Ellis and Dr Liz Hodges came along At the 2014 WS Conference Dr Liz Ellis and Dr Liz Hodges came along and told us about the research project they were doing about attending a rare disease clinic when you suffer with a dual sensory impairment. They have produced a report for adult and teenager participants, a video aimed at children, there’s the executive summary, as well as the full report – which can all be found on the University of Birmingham’s website.https://www.birmingham.ac.uk/schools/education/research/victar/research/deafblind-attending-rare-syndrome-clinics.aspx