From Front Room to Research Laboratory -How Alström Syndrome UK made that Journey

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1 From Front Room to Research Laboratory -How Alström Syndrome UK made that Journey Mike Hales ASUK Programme Manager 1

2 The Challenge Alström Syndrome is a recessive genetic condition with <1000 known cases worldwide. It affects eyes, ears and just about every organ in the body. Medical research requires specialised skills, state-of-the-art equipment and is very expensive. This is definitely not an area in which you would expect a small patient-led charity, working from a front room, to make an impact. But Alström Syndrome UK (ASUK) is doing just that -here s how! 2

3 In The Beginning Kay Parkinson spent years seeking help for her children. In 1996 Matthew (18) and Charlotte (15) were finally diagnosed with Alström Syndrome (AS) Though relieved to have a diagnosis, understanding what might be in store was daunting. 3

4 Setting up a Patient Group In 1997 Kay finds an Alström patient group ASI in America. The whole family go to the next conference in California. Inspired, Kay returns to the UK eager to start her own patient support group. ASUK is founded in

5 Setting up a Patient Group In 1998 Kay sets up ASUK, turning her front room into an office. At the first family meeting in the SW England there are just 7 families together with her children s doctors Richard Paisey and Cathy Carey from Torbay Hospital. Richard and Cathy start to provide patient clinics on the side. ASUK grows to about 25 members. 5

6 Improving Patient Treatment The ASUK annual family conferences starts to draw clinicians and scientists first multidisciplinary NHS clinics the first of their kind in the world for AS 2007 ASUK join Birmingham Children s Hospital and Torbay Hospital to deliver this clinic service. 6

7 ASUK partners with Torbay, Birmingham, and Cambridge University. Together we create a research plan and apply to the Big Lottery fund. Growing Ambition In 2009 ASUK wins 350,000 ( 420,000) grant for a 3 year research project combining clinical and basic cell studies 7

8 Our Project Ambition To raise awareness of Alström Syndrome in the UK and so offer more patients the benefits of regular holistic clinics To improve diagnosis and disease management of AS To deepen our understanding of the complex AS phenotype and seek correlations with the genetic profile To improve our understanding of the fundamental cell biology which may one day offer completely new treatments. 8

9 Making Progress This project is now just over half way and so far we have: Developed a patient database to record patient/family histories, genetic and clinical test information. Established a primary cell and tissue bank, now housing cell lines from 17 patients. An awareness raising programme has almost doubled the number of known UK cases to70. 9

10 Looking to the Future ASUK is: Bringing research groups together across the world A partner in the Ciliopathy Alliance Part of the Euro-WABB (Wolfram, Alström, Bardet-Biedl) consortium, which is extending this methodology to generate a European wide registry of similar syndromes. 10

11 Acknowledgements Mrs Kay Parkinson, Founder and CEO of ASUK National Commissioning Group for Alström clinic funding Big Lottery Medical and Scientific Fund for project funding Dr Richard Paisey clinical lead (South Devon Health Care NHS Trust) Professor Tim Barrett (Birmingham Children s Hospital NHF Foundation Trust) Dr Robert Semple, WellcomeTrust Scientist & Fellow (Cambridge University Institute of Metabolic Science) All the AS patients who have volunteered to participate in this study 11