January 22, 2019 - Hope for Life: Family's Efforts to Save Daughter Lead to Genetric Treatment for Rare Disease
Jocelyn Duff felt a pang of sadness as she looked down at her sleeping daughter, the steady click and hum of the child’s breathing machine triggering memories of how much Talia had lost in a few short years.
UT Southwestern Medical Center is helping the Duff family organize a gene therapy clinical trial to treat Talia’s condition, called Charcot Marie Tooth disease, type 4J (CMT4J). The disease – which shares many of the same symptoms as amyotrophic lateral sclerosis – is caused by a gene mutation that prevents the body from filtering cellular waste. The clinical trial is among several that UT Southwestern’s gene therapy program is organizing for a class of rare neurological diseases largely overlooked by the medical field. By inserting healthy genes missing from patients’ DNA, scientists are looking to develop lifesaving treatments for millions of children who collectively suffer from diseases like CMT4J.
Dr. Steven Gray, who has pioneered gene therapies for multiple rare diseases, is optimistic that CMT4J will be treatable through genetic means. He said the condition is similar to giant axonal neuropathy (GAN), another deadly disease for which gene therapy is being tested. Early results from that clinical trial have been positive. Read the full story.
September 20, 2018 - Willow's strength: Parents work with UTSW to save daughter from deadly metabolic disease
A plastic blue slide sits in a corner of Willow Cannan’s backyard. Her parents remember how she used to rush up its ladder and glide down, beaming from excitement as she reached the ground. But Willow no longer uses the slide. A rare genetic disease has wiped out much of Willow’s nervous system within the last two years.
The family’s hope for Willow stems from a gene therapy center at UT Southwestern Medical Center where leading experts are engineering innovative treatments for some of the world’s rarest brain diseases. By inserting genes missing from patients’ DNA, scientists are looking to develop life-saving treatments for millions of children who collectively suffer from rare genetic conditions that have been largely overlooked by the medical field.
Willow’s parents have started the United MSD Foundation to help fund the effort and still hold onto hope that a treatment can be approved in time to save their daughter. The United MSD Foundation helps support research by Dr. Gray and the UT Southwestern gene therapy center. Read the full story.
Additional story in the Huffington Post about Willow Cannan:
- October 26, 2018 - A Brutal Clock
August 21, 2018 - Children of hope: Patients with rare brain diseases help scientists open new doors for gene therapy
Chrissy Grube’s face tensed with effort. She took one laborious step in her walker, then another, pausing for breath before resuming the slow trek from the kitchen.
- Gene therapy center developing treatments for more than two dozen rare neurological diseases largely overlooked by the medical field.
- New facility addresses national shortage of a clinical-grade virus, which can be loaded with genes and delivered into human cells.
- Video: Engineering hope: UT Southwestern targets rare diseases
"Our work here is changing medicine, said Dr. Steven Gray, Associate Professor of Pediatrics, Molecular Biology, and Neurology & Neurotherapeutics, who organized Chrissy's clinical trial with the National Institutes of Health and has pioneered gene therapy treatments for other rare diseases. "The need is so great. We meet with the families and see the effects of these horribles diseases. It goes through our minds every day." Read the full story.
August 15, 2018 (Dallas Morning News) - A McKinney family and UT Southwestern scientists race to save boy with ultra-rare disease
Ever since doctors diagnosed his son with a rare disease, Doug Woleben has spent every evening on his computer, searching for a way to save the 6-year-old's life. He has mastered the foreign language of medical literature, corresponded with drug companies, flown his family long distances for experimental treatments and emailed academic researchers who might know of something, anything, that could help his son. Some days have brought hope, but many more have brought frustration.
Just as the Wolebens were running low on options, their neurologist at UT Southwestern Medical Center sent Will's case file to a new colleague named Steven Gray. Gray, a scientist who joined the faculty in December, has made it his mission to develop treatments for fatal childhood diseases like Will's. Not only would this approach, known as custom gene therapy, target Will's symptoms, it might fix their underlying cause: a single defective gene out of Will's more than 20,000. Read the full story (Dallas Morning News).
Additional stories in the Dallas Morning News about Will Woleben:
- September 13, 2018 - Anonymous donor gives $155,000 to help McKinney boy with rare disease
- November 15, 2018 - McKinney boy's story moves Mark Cuban to invest in research targeting ultra-rare, fatal disease