We need you as a Champion!
The Cohen Syndrome Champions are raising money as part of the Million Dollar Bike Ride for rare disease research. Please helps us reach our goal to fund research for the amazing group of Cohen individuals worldwide! Last year we raised over $100,000. The Orphan Disease Center at UPenn MATCHES UP TO $30,000 if we meet a $20,000 fundraising minimum. Your donation is TAX DEDUCTIBLE.
About Cohen Syndrome and COH1/VPS13B
Cohen Syndrome is a rare genetic disease (approximately 1,000 people diagnosed worldwide). It is caused by mutations in chromosome 8 at gene COH1, or VPS13B.
PEOPLE WITH COHEN SYNDROME ROCK!
They generally love to smile, laugh, and be social. It is hard not to fall in love with these sweet individuals! However they face many challenges due to the broad spectrum of symptoms of Cohen Syndrome, including:
failure to thrive, developmental delays, intellectual disability, small head size (microcephaly), weak muscle tone (hypotonia), and overly flexible joints, which often result in orthopedic issues. Many have behavior that falls within the autism spectrum. Speech delays are common with many affected individuals being nonverbal. Independence is impacted as well - individuals typically require lifelong caregiver support.
This condition includes progressive myopia (nearsightedness) and severe retinal degeneration (dystrophy) beginning at an early age. This leads to peripheral vision loss, night blindness and typically legal blindness by adulthood. This is one of several issues limiting the potential for future independence, and impacts more than 90% of individuals.
Many people who have Cohen Syndrome also suffer from moderate to severe autoimmune neutropenia, an abnormally low number of white blood cells to fight against bacterial infections. Having this condition makes them extremely susceptible to life threatening infections and requires that fevers be managed as medical emergencies.
We are fundraising in partnership with the University of Pennsylvania's Orphan Disease Center (ODC) as part of their Million Dollar Bike Ride for Rare Disease Research program. Research priorities for Cohen Syndrome are (1) study of the function of the VPS13B gene and underlying pathways and (2) development of potential therapeutic interventions.
THANK YOU FOR JOINING US IN THIS MISSION!
EMPLOYER MATCHING? Check here: https://ww2.matchinggifts.com/uofpa. Organization you should input for matching is: University of Pennsylvania School of Medicine - TRUSTEES OF THE UNIVERSITY OF PENNSYLVANIA. Scheie Eye Institute, Philadelphia, PA, 19104-6021, United States, U.S. Tax ID/EIN: 23-1352685. Be sure you advise this is for MDBR - Cohen Syndrome Champions team when submitting!
Team Members 6
Jo Anne Kee