Dr Richard Paisey has worked with Alström Syndrome UK (ASUK) charity since its inception in 1998. Little was known about this rare condition and there were no dedicated clinics. Together with ASUK he formulated the world’s first regular multi-disciplinary clinics for Alström Syndrome – thus forming the basis for clinical research to commence.

Dr Richard Paisey trained in physiology at the University of Cambridge UK, then in Medicine at Guy’s Hospital. His specialist clinical training in Southampton, Northwick Park, Bristol and Mexico City led to appointment in 1986 as consultant physician in medicine/ endocrinology and diabetes at Torbay Hospital, South Devon, UK.

    He also examines for MRCP paces, and leads the Diabetes research network in South Devon.

    All of these experiences and skills have been brought to bear in leadership of a very committed and talented adult Alström syndrome multidisciplinary clinical team at Torbay.

Dr Paisey has found it challenging and rewarding to have started on a journey of clinical investigation with this group of kind, thoughtful and resourceful patients and has always worked in partnership with ASUK nationally.  Other partnerships with Birmingham Children’s’ Hospital and collaboration from medical teams in Cardiff, Great Ormond Street, Leeds, Manchester, Blackpool, Exeter, Bedford and Truro has greatly assisted progress. International work with geneticists from the Jackson Laboratory, Bar Harbour, USA; Padua Italy; Turkey and Portugal has enabled a broader understanding of the phenotype to emerge.

With more than 20 professional colleagues he has sought to understand and alleviate deafness, obesity and severely insulin resistant diabetes which characterise the syndrome. The extent of other problems- cardiomyopathy, hepatic and renal fibrosis, dyslipidaemia, bladder and bowel motility disturbances, and orthopaedic problems has emerged. So far it has been possible to rationalise diabetes therapy, treat hypertriglyceridaemia to prevent pancreatitis and improve mobility. Carefully planned surgery to bowel and bladder has been undertaken and we now hope to develop effective assessment of renal, hepatic and cardiac dysfunction to slow progression and plan early for transplantation.

Big Lottery Medical/Scientific funding of £350,000 has now been acquired by ASUK to explore genotype phenotype correlations with Dr Paisey and colleagues at Birmingham Children’s Hospital. Studies of reprogrammed Alström cells with the University of Cambridge bioscience faculty will also begin. More cogent help for our patients will emerge once the mechanisms through which the abnormal ALMS1 protein causes organ dysfunction is clarified. This bid was only possible due to Dr Paisey’s work.