About two years ago, Brian Colella, who is now 18 and beginning his freshman year at the University of Wisconsin, was diagnosed with facio-scalpulo-humeral (FSH) muscular dystrophy. The disease causes muscle weakness that primarily affects the face, shoulders and upper arm. It’s a progressive condition, but no one can predict how severely a person will be affected.
As an athlete, Brian had to give up several of his sports activities. But he was well enough to continue in school and apply to college. After the diagnosis, he and his family began to think about action they could take. They learned that very little research money is available for studying this particular form of muscular dystrophy, although it is the third most common form.
They established the non-profit Pacific Northwest Friends of FSH Research to raise research money. In part because both of Brian’s parents are graduates of the UW, they wanted to support research here at the UW. In its first fiscal year, the group was able to raise about $200,000 with a gala auction in January at the Bellevue Hyatt and through other private donations.
In addition to providing some direct research support, the family hopes to stimulate interest among researchers so that more work will be done.
They asked Dr. Thomas Bird, professor of neurology and head of the Neurogenetics Division, to lead an advisory committee that would solicit research proposals and choose one to receive the first donation.
In August, Brian and his mother, Terry Colella, the official president of the nonprofit organization, came to the Health Sciences Building to visit the lab of Dr. Brian Kennedy, assistant professor of biochemistry. Kennedy submitted the winning proposal, and will be working with Dr. Stephen Hauschka, professor of biochemistry and a well-known investigator in the muscular dystrophy field. Their work will receive $100,000 over two years.
Kennedy will be studying muscle cells to understand the nature of the genes in the FSHD region of the human genome. He will also compare molecular aspects of FSHD with another form of muscular dystrophy, and then will look at a possible therapeutic approach using the muscle cells and a relatively new technology called RNA silencing.
Brian is now beginning college with the knowledge that researchers at the UW are working on his disease, thanks to the way he and his family chose to deal with the diagnosis.
Pacific Northwest Friends of FSH Research is already working on a second auction, scheduled for Jan. 28, 2006, again at the Bellevue Hyatt. Both donations and volunteers are needed. To learn more, visit http://www.fshfriends.org , call the Colellas at 425-827-8954 or e-mail firstname.lastname@example.org.