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

 

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