An Irvine-based foundation dedicated to finding a cure for cystinosis announced a raft of new grants worth a total of $2.79 million as one of the organization’s founders said researchers are close to an antidote.
The path to a cure for the rare genetic disorder which results in damage to many systems in the body, especially the kidneys and eyes started 14 years ago at a Ruby’s Diner in Laguna Beach, said Nancy J. Stack, president and founder of the Cystinosis Research Foundation.
On the eve of her daughter’s 12th birthday, the Corona Del Mar family Tuesday was having lunch when they asked the girl, Natalie, if she had a birthday wish.
After Natalie revealed she wished her disease would go away, her parents decided they had to do something, Stack said.
“Within weeks my husband and I did our first fundraiser,” she said. “It was such a rare disease and no one was doing any research. We were told she probably wouldn’t graduate high school.”
Her daughter will turn 26 next week and with her master’s degree from USC in social work she is looking for a job, her proud mother said.
“She takes 52 pills a day and uses eye drops as many times as she can get them in her eye” to save her eyesight, her mother said.
Natalie also struggles with kidney disease, her mother said.
The average life span of those afflicted with the disease is 27 or 28, so that is a “sobering thought” for her family, Stack said.
The foundation has had great success fundraising helping the main research scientist, Stephanie Cherqui, to find stem cell therapy that has reversed the disease in lab mice, Stack said.
“We feel very positive we will have” Food and Drug Administration “approval this year” of a treatment, Stack said. “If that happens we can recruit the first two patients with this stem cell treatment.”
Even more encouraging is that the research has led scientists to also develop treatments for other diseases, Stack said.
Among those receiving grants were the Scripps Research Institute of La Jolla, the UC San Diego, Thiogenesis Therapeutics Inc. of San Diego, Harvard Medical School, Massachusetts General Hospital and the University of Pittsburgh School of Medicine. Researchers in Belgium, France, Italy and New Zealand also received grants from the foundation.
—City News Service