World’s Top Researcher of Rare Genetic Liver Disease Coming to UConn Health

Pediatric endocrinologist Dr. David Weinstein. (Janine Gelineau/UConn Health Photo)
Pediatric endocrinologist Dr. David Weinstein. (Janine Gelineau/UConn Health Photo)

SHARELINES

Leading pediatric endocrinologist and scientist, Dr. David A. Weinstein and his world-renowned Glycogen Storage Disease (GSD) Program is moving to Connecticut’s UConn School of Medicine and Connecticut Children’s Medical Center in early 2017.

Weinstein’s GSD Program, currently based at the University of Florida, is the largest clinical and research program of its kind in the world. Pediatric and adult patients living with the rare, genetic liver disease travel from across the globe for his team’s expert care, a number which totals more than 500 patients from 49 states and 45 countries.

He will serve as professor in the Department of Pediatrics at UConn School of Medicine and director of the GSD Program, a joint venture of UConn Health and Connecticut Children’s. UConn Health will be home to the GSD program’s research laboratories while the multidisciplinary team will provide comprehensive clinical care at Connecticut Children’s.

“Our team is very excited to be bringing the GSD program to Connecticut at UConn School of Medicine and Connecticut Children’s Medical Center,” said Weinstein. “This is a wonderful opportunity for the GSD community, our program and our institutions.”

Weinstein and his team are on the verge of testing in clinical trial the first gene therapy for GSD, developed in conjunction with Dimension Therapeutics of Cambridge, Mass. Testing of the gene therapy has shown great effectiveness in improving the health and life expectancy of canines born with the disease.

“UConn and Connecticut Children’s is the best place to house our GSD program and launch our clinical trial research,” said Weinstein. “I am very thankful to UConn and Connecticut Children’s for thinking outside the box and their dedication to making this dream a reality.  Our team looks forward to working with these outstanding institutions to find better treatments and a cure for the devastating disease of GSD.”

GSD is a rare genetic childhood disorder with various forms (types 0, Ia, Ib, III, VI, IX, and XI) that impacts the liver’s storage and release of sugar. It affects one out of every 100,000 people. Healthy livers store excess sugar from food for our body’s future energy needs and release it into our bloodstream when we need it as processed sugar enzymes known as glycogen. However, in GSD, the liver fails to breakdown glycogen into glucose causing the body’s blood sugar levels to drop dangerously low, which can lead to seizure or death unless there is a constant intake of glucose.

The condition was almost always fatal until 1971 when it was discovered that continuous glucose therapy could help these patients. Cornstarch therapy was introduced as a slow release form of glucose in 1982, and it allowed feeds to be spaced to every 3 – 4 hours.  Thanks to cornstarch a greater number of patients with GSD are now surviving into adulthood. However, nearly 35 years later cornstarch is the only approved treatment available.

GSD patients are high risk for other health conditions because their bodies try to compensate for the liver’s dysfunction and find alternative energy sources. The harmful complications may include: kidney stones and failure, anemia, cardiovascular disease, elevated triglycerides, high cholesterol, liver tumors (both benign and cancerous), osteoporosis and inflammatory bowel disease.

“Finding a cure as soon as possible for GSD and a way to prevent its complications is critical,” said Dr. Juan C. Salazar, chair and professor of the Department of Pediatrics at UConn School of Medicine and physician-in-chief at Connecticut Children’s. “While the consumption of cornstarch every few hours is a lifesaving treatment for GSD patients, if one dose is missed it can be quite damaging and deadly. This potential burden is too great for any parent to stomach. We look forward to Dr. Weinstein and his team’s steadfast work to further advancing care and research for GSD children and finding a cure.”

“It is simply incredible that Dr. Weinstein and eight other members of his GSD program’s team are moving to Connecticut,” says Bruce T. Liang, dean of UConn School of Medicine. “It symbolizes their true commitment, selflessness and dedication – which mirrors ours– to GSD patients and stopping at nothing to find promising new treatments.”

Members of Weinstein’s prestigious GSD program planning to join him in Connecticut include: Youngmok Lee, Ph.D., the program’s basic science coordinator; Monika Dambska, MD, the clinical-research coordinator; Ana Estrella, MD, the laboratory coordinator; Kathy Ross, RD, LDN, the dietician; and the four registered nurses Gail Butler, Iris Ferrecchia, Betsy Potocik and Emma Labrador.

“Our goal is to very soon finally find a cure for GSD and its complications,” adds Weinstein. “The strong synergies and collaborative team science happening at UConn and Connecticut Children’s is world class and the most fertile ground to make a GSD cure reality.”

“It is good to be back in Connecticut,” shared Weinstein who attended college in the state and has cared for many patients here, especially in the West Hartford community. “For the last 20 years the Connecticut community has really been supportive of my ongoing GSD clinical research work,” said Weinstein.

Weinstein graduated from Connecticut’s Trinity College and earned his medical degree at Harvard Medical School. At Boston Children’s Hospital he completed his residency, chief residency, and fellowship in pediatric endocrinology and completed his masters in clinical investigation at Harvard and MIT. He became the director of the GSD program at Boston Children’s before moving to Florida in 2005 to pursue gene therapy on dogs with naturally occurring GSD.

Prior to joining UConn Health, Weinstein served as professor of the Division of Pediatric Endocrinology at the University of Florida and director of its GSD Program. As a physician-scientist he has authored over 80 articles and 26 textbook chapters on GSD. He is the recipient of the prestigious international humanitarian award, the Order of the Smile, for helping children around the world with GSD, a recognition shared with Pope John Paul II, Mother Teresa, Nelson Mandela, and Pope Francis. Weinstein was named one of the inaugural Goldwater Scholars in 1989.  He is a former Jan Albrecht Award winner from the American Association for the Study of Liver Diseases, and he received the George Sacher Award from the Gerontological Society of America. Weinstein was inducted into the Rare Disease Research Hall of Fame in 2013.

In addition to local GSD community outreach, Weinstein’s team partners internationally with institutions and scientists in Argentina, Brazil, Canada, China, Faroe Islands, Israel, Mexico, and the Netherlands.

“Dr. Weinstein’s recruitment to UConn and Connecticut Children’s is yet another example of the strong ties between the two institutions, and more importantly our commitment to providing state of the art clinical care and promoting innovative research that benefits children and adults,” said Jim Shmerling, president and CEO of Connecticut Children’s.

For more information about Weinstein’s research, see the UConn Magazine story Free to Be Imperfect.