Wolfram syndrome timeline
J.T. Snow, Dr. Permutt, Jon Wasson, Stephanie Gebel
2008 – Studies show that WFS1 is one of top ten causative candidate genes for T2D. (ref 5).
2010 – Wolfram Syndrome International Registry and Research Clinic started.
2011 – Snow Fund contributes to Research Clinic beginning in year two and to Permutt lab research 2011.
2012 – Dr. Permutt dies June 6, 2012.
Dr. Fumihiko Urano
2012 – Dr. Fumihiko Urano arrives at Washington University and assumes Permutt lab work in WS August, 2012.
2013 – Snow Fund and Foundation contributes to work in Urano lab looking for WS biomarkers and possible drugs to treat disease.
1. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, Mueckler M, Marshall H, Donis-Keller H, Crock P, Rogers D, Mikuni M, Kumashiro H, Higashi K, Sobue G, Oka Y, Permutt MA. Nat Genet. 1998 Oct;20(2):143-8.
2. Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium. Osman AA, Saito M, Makepeace C, Permutt MA, Schlesinger P, Mueckler M. J Biol Chem. 2003 Dec 26;278(52):52755-62. Epub 2003 Oct
3. Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium. Osman AA, Saito M, Makepeace C, Permutt MA, Schlesinger P, Mueckler M. J Biol Chem. 2003 Dec 26;278(52):52755-62. Epub 2003 Oct 3.
4. Common variants in WFS1 confer risk of type 2 diabetes. Sandhu MS, Weedon MN, Fawcett KA, Wasson J, Debenham SL, Daly A, Lango H, Frayling TM, Neumann RJ, Sherva R, Blech I, Pharoah PD, Palmer CN, Kimber C, Tavendale R, Morris AD, McCarthy MI, Walker M, Hitman G, Glaser B, Permutt MA, Hattersley AT, Wareham NJ, Barroso I. Nat Genet. 2007 Aug;39(8):951-3. Epub 2007 Jul 1.
5. Candidate gene studies reveal that the WFS1 gene joins the expanding list of novel type 2 diabetes genes. Wasson J, Permutt MA. Diabetologia. 2008 Mar;51(3):391-3. doi: 10.1007/s00125-007-0920-9. Epub 2008 Jan 15.