The mission of the JLK Sanfilippo Research Foundation is to create awareness of this very rare genetic syndrome and to raise funds to help support private companies and non-profit organizations in their quest to develop therapies that will combat Sanfilippo Syndrome.
We became a non-profit in August of 2006. Our non-profit tax identification number is 20-4664977.
The JLK Sanfilippo Research Foundation
P.O. Box 564
Belmont, MA 02478
Sanfilippo Research Foundation
Media Contact: JLK Sanfilippo Research Foundation Paul Burke; email@example.com
Sanfilippo Research Foundation
Pathology of synapse function in sanfilippo disease.
Belmont, MA., March 1, 2012 - JLK Sanfilippo Research Foundation has made the second of two payments of $40,000 to Saint Justine Hospital in Montreal under the guidance and direction of Alexey Pshezhetsky, PhD. Laboratory of Metabolic Diseases, Department of Medical Genetics.
“The aim of our research project is to understand the pathological mechanism of genetic childhood disease mucopolysaccharidosis type III (MPS IIIC, Sanfilippo disease), and to develop new strategies for its therapy. Sanfilippo disease belongs to a group of devastating inherited diseases of children affecting the lysosome, a cellular compartment responsible for degradation and recycling of big biological molecules. It causes rapid mental retardation in infants and children, accompanied by variable problems of the eyes, skin and bones. Most of patients become demented and die before the adulthood. Through our previous studies supported in part by grants from The Sanfilippo Children’s Research Foundation we cloned the gene HGSNAT which deficiency causes MPS IIIC, identified mutations in the MPS IIIC patients, developed a mouse model for the disease and started to study pathological changes in these mice. Our collaborator Dr. Brian Bigger studied brain pathophysiology in the mouse models of MPS IIIA and IIIB. Our studies have led us to propose that the mechanism underlying the cognitive dysfunction and other behavioral manifestations in MPS patients is related to synaptic defects in cortical and hippocampal neurons but not neuronal death. Now we propose to study synaptic function in the brains of transgenic mouse models of Sanfilippo disease which will allow us to understand how exactly the disorder affects children and suggest novel therapeutic approaches.” Alexey Pshezhetsky PhD.
JLK Sanfilippo Research Foundation has agreed to fund the project for two years at $40,000 a year. This grant agreement has been made possible through the generous support and help of many. We wish to extend our heartfelt gratitude to the following: Woburn Bowladrome, Belmont Police and Fire Hockey Fundraiser, the Underwood Mansion Fundraiser, Somerville Road Runners, Jenny Boston, Chase Community Giving and the many individuals who support our foundation.
JLK Sanfilippo Research Foundation is a recognized 501 (c) (3) charity. Our mission
is to create awareness of this very rare genetic syndrome and to raise funds to help support private companies and non-profit organizations in their quest to develop therapies that will combat Sanfilippo Syndrome.
Help save our kids.
Jonny Lee Miller, through his efforts in the ultra marathon, has raised over $130,000 for Sanfilippo Research.
For that we owe him a great debt of gratitude.
Here are the links:
*Jonny's Twitter handle is: @Jonnyjlm
*JJB's Twitter handle is: @JJB4MPS3C
*The Run: http://www.thenorthface.com/en_US/endurance-challenge/bear-mountain-ny/?stop_mobi=yes
*Jonny's fundraising page for JJB: http://www.crowdrise.com/jonnyleemiller
*Jonny's CBS "Elementary" profile page: http://www.cbs.com/shows/elementary/cast/153490/?pg=