Current Research in the UK
The following research is underway in the UK. AS UK has a research program (pdf).
Torbay Hospital
Alström clinics and research Torbay Hospital.
The Torbay Hospital team have been instrumental in building international collaborative pioneering research into the rare Alström Syndrome for several years. This has led to Alström Syndrome UK securing Department of Health NSCAG funding for two dedicated multi-disciplinary specialist clinics (Torbay and Birmingham), which are the first state recognised dedicated clinics in the world for this condition.
There are approximately 500 cases known worldwide, affecting 50 families in the UK. The autosomal recessive condition results in childhood blindness, partial neuronal deafness, almost always insulin resistance and diabetes, and often cardiomyopathy. The urinary tract, metabolism, and endocrine systems can also be affected by widespread tissue fibrosis. With the Birmingham Children’s Hospital and Alström UK, we have sought to enhance growth and development, and refine treatments for dysfunction in each organ system.
We hold two day clinics every two months at Torbay with a maximum of five families.
One day is devoted to group discussions, assessment of technologies and nutrition and exercise, and the other to an intensive series of non invasive cardiac, vascular, metabolic, and audiology tests. This has enabled coherent evaluation of treatments for cardiomyopathy, diabetes, hypertriglyceridaemia, urehtral/detrusor dys-synergia and partial neuronal hearing loss.
Much of this work has been published or is being written up.
Team work has been essential, including audiology, cardiology, diabetes and metabolism, urology, biochemistry, respiratory medicine, radiology, and nutrition and dietetics.
Richard Paisey, 6th sept 2007
Birmingham Children’s Hospital
Tim Barrett is leading the team which is investagating Alström syndrome body composition. University of Southampton Genetics Division The Human Genetics Division, University of Southampton, Southampton, UK is at the forefront of current research into Alström syndrome. David Wilson. Professor of Human Developmental Genetics details their latest work: “Saturday 24th February 2001 was an exciting day in our laboratory in Southampton. Dr Tom Hearn, senior post-doctoral scientist, sent me an email saying that he had found what we were looking for. A mistake in a gene (originally termed KIAA0328) that was the cause of Alström syndrome. The gene, now called ALMS1, turned out to be very large (as genes go) and seems to have an important role in all of us. Genes encode messages that inform cells and tissues how to work. Unfortunately, sometimes the “messages” may contain mistakes; in the case of ALMS1, these mistakes lead to Alström syndrome. Finding the ALMS1 gene was just the start. Once we knew which gene caused Alström syndrome, we tried to determine what ALMS1 actually does in cells. Although knowing the DNA sequence of ALMS1 is critical, it doesn’t necessarily give any clues as to what it actually does. Most genes make proteins and therefore we had to find out where the ALMS1 protein works in cells. In Southampton, we have shown that ALMS1 protein forms part a cellular structure called a centriole.We can now ask further questions:
- What roles do centrioles have in heart cells?
- How are they important in the retina of the eye?
- How do they help regulate glucose and insulin in the blood?
By understanding what ALMS1 does usually, we will begin to understand how it goes wrong and cause Alström syndrome.
Our hope is that the answers may help develop treatments and prevent complications.”