Alström Syndrome Research
It is difficult to say what is impossible, for the dreams of yesterday are the hopes of today and the reality of tomorrow.
~Robert H. Goddard
ALSTROM SYNDROME PATIENT REGISTRY AND PHENOTYPE DATABASE
We have the largest collection of essential information about children and adults with Alstrom Syndrome, with data about more than 650 individuals. If you have Alstrom Syndrome or if you are treating a patient with Alstrom Syndrome and wish to participate in this ongoing research effort, please contact: jan.marshall@jax.org
ABSTRACTS FROM INTERNATIONAL SCIENTIFIC CONFERENCE - PADUA 2008. 
MOUSE MODELS FOR ALSTROM SYNDROME
Mouse models for Alstrom Syndrome exhibit most of the characteristics seen in human patients with Alstrom Syndrome, including vision and hearing impairment and obesity.
Alms1-disrupted mice recapitulate human Alstrom syndrome.
Collin GB, Cyr E, Bronson R, Marshall JD, Gifford EJ, Hicks W, Murray SA, Zheng QY, Smith RS, Nishina PM, Naggert JK.
Human Molecular Genetics 2005; 14(16):2323-33
Fat Aussie – A New Alstrom Syndrome Mouse Showing a Critical Role for ALMS1 in Obesity, Diabetes and Spermatogenesis
Arsov T, Silva DG, O'bryan MK, Sainsbury A, Lee NJ, Kennedy C, Manji SS, Nelms K, Liu C, Vinuesa CG, de Kretser DM, Goodnow CC, Petrovsky N. Molecular Endocrinology 2006:
Adaptive failure to high-fat diet characterizes steatohepatitis in Alms1 mutant mice. Arsov T, Larter CZ, Nolan CJ, Petrovsky N, Goodnow CC, Teoh NC, Yeh MM, Farrell GC.
Biochem Biophys Res Commun. 2006;342(4):1152-9.
A Role for Alstrom Syndrome Protein, ALMS1 in Kidney Ciliogenesis and Cellular Quiescence. Li G, Vega R, Nelms K, Gekakis N, Goodnow C, McNamara P, Wu H, Hong N, Glynne R. PLoS Genetics 2007; 3(1):e8.
RESEARCH INSTITUTES AND MEDICAL CENTERS
The Jackson Laboratory, Bar Harbor, ME, USA
University School of Medicine, Padua, Italy
The University of Southampton, Southampton, UK
The Hospital for Sick Children, Toronto, ON, Canada
Great Ormand Street Hospital for Children, London, England
Torbay Hospital, Torquay, South Devon, UK
Birmingham Children's Hospital, Birmingham, UK
The Swedish Institute for Disability Research
Örebro University Hospital
Saint James University Hospital, Leeds, England
