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 

RESEARCH PARTICIPATION OPPORTUNITY FOR INDIVIDUALS WITH ALSTROM SYNDROME

If you have Alstrom Syndrome, you and your parent or guardian are invited to participate in a research study.  Little is known about the problems people have as they are growing up with Alstrom Syndrome.  To learn more, this study is asking people with Alstrom and their families to complete a questionnaire.  The questionnaire includes questions about the past and present life experiences of people who have alstrom synderome and takes approximately 30-45 minutes to fill out.  Some of the questions are about things that are good in life and some are about things that are not so good.  This is described as "Quality of Life".   If you volunteer to participate, a questionnaiare will be sent to you with an envelope to mail it back.  Please contact Jan Marshall if you would like to be part of this important research.

 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 750 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  1-800-371-3628

 

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