The namesake of theJackson Gabriel Silver Foundation was born in October 2007 and, shortlyafterward, diagnosed with epidermolysis bullosa. Silver's condition, in which aprotein deficiency prevents layers of skin from properly bonding together, ledhis parents to form a foundation in his honor 2.5 years later. Today thefoundation funds research aimed at treating and curing EB, which appearstantalizingly close.
Alex Silver and his wife, Jamie, never expected their son to be born with a rare disease-"It took us a while to find our bearings," Alex Silver said-but before long, they became fully engaged in the EB community. Their involvement started soon after their son's birth with The Dystrophic Epidermolysis BullosaResearch Association of America, or Debra, which focuses on patient care in addition to research, where Alex Silver remains on the Board of Directors. But the Silvers saw a need for a group to fund and promote EB research solely. From there, JGSF was born.
The organization now helps support some of the leading global EB researchers, as well as the EpidermolysisBullosa Clinical Research Consortium, which was formed to conduct clinical and translational research. Most importantly, the work of JGSF and the other EB organizations seems to be paying off. There are multiple ways of treating and curing EB being investigated, Silver said, including protein replacement therapy, and gene and stem cell therapies. Within the past year, significant progress has been made, especially in the area of protein replacement therapy-which may have wider applications-and has brought in a windfall of venture capital funding to researchers and interest from the pharmaceutical industry.
"Four years ago, protein therapy was published in papers," Silver said. "Today there is venture capital funding that will continue down the path of proving this out ... this form of therapy is not a cure, but it's a game changer. Imagine being able to wear shoes and not have them take the skin off your feet. Imagine falling down and not losing the skin on your palms. We are taking about a potentially enormous change in the quality of life."
For Silver, a membership with Research!America helps him and the organization stay on top of the legislative climate; moreover, being part of a larger group helps all those affected by rare diseases.
"We have been living in a in a time of great economic strain, of course," he said. "So how you allocate your resources is more important than ever ... To be part of Reasearch!America, which continues to advocate for those affected by rare diseases while we're spending our time focusing on curing EB, is a huge asset, it really is."
To learn more, visit www.jgsf.org.