{"id":116585,"date":"2016-09-19T08:23:39","date_gmt":"2016-09-19T12:23:39","guid":{"rendered":"https:\/\/today.uconn.edu\/?p=116585"},"modified":"2017-06-12T14:17:50","modified_gmt":"2017-06-12T18:17:50","slug":"worlds-top-glycogen-storage-disease-program-coming-uconn-health","status":"publish","type":"post","link":"https:\/\/today.uconn.edu\/2016\/09\/worlds-top-glycogen-storage-disease-program-coming-uconn-health\/","title":{"rendered":"World\u2019s Top Researcher of Rare Genetic Liver Disease Coming to UConn Health"},"content":{"rendered":"

Leading pediatric endocrinologist and scientist, Dr. David A. Weinstein<\/a> and his world-renowned Glycogen Storage Disease (GSD) Program is moving to Connecticut\u2019s UConn School of Medicine and Connecticut Children\u2019s Medical Center in early 2017.<\/p>\n

Weinstein\u2019s 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\u2019s expert care, a number which totals more than 500 patients from 49 states and 45 countries.<\/p>\n

He will serve as professor in the Department of Pediatrics at UConn School of Medicine and director of the GSD Program<\/a>, a joint venture of UConn Health and Connecticut Children\u2019s. UConn Health will be home to the GSD program\u2019s research laboratories while the multidisciplinary team will provide comprehensive clinical care at Connecticut Children\u2019s.<\/p>\n

\u201cOur team is very excited to be bringing the GSD program to Connecticut at UConn School of Medicine and Connecticut Children\u2019s Medical Center,\u201d said Weinstein. \u201cThis is a wonderful opportunity for the GSD community, our program and our institutions.\u201d<\/p>\n

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.<\/p>\n

\u201cUConn and Connecticut Children\u2019s is the best place to house our GSD program and launch our clinical trial research,\u201d said Weinstein. \u201cI am very thankful to UConn and Connecticut Children\u2019s for thinking outside the box and their dedication to making this dream a reality. \u00a0Our team looks forward to working with these outstanding institutions to find better treatments and a cure for the devastating disease of GSD.\u201d<\/p>\n

GSD is a rare genetic childhood disorder with various forms (types 0, Ia, Ib, III, VI, IX, and XI) that impacts the liver\u2019s storage and release of sugar. It affects one out of every 100,000 people. Healthy livers store excess sugar from food for our body\u2019s 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\u2019s blood sugar levels to drop dangerously low, which can lead to seizure or death unless there is a constant intake of glucose.<\/p>\n

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. \u00a0Thanks 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.<\/p>\n

GSD patients are high risk for other health conditions because their bodies try to compensate for the liver\u2019s 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.<\/p>\n

\u201cFinding a cure as soon as possible for GSD and a way to prevent its complications is critical,\u201d 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\u2019s. \u201cWhile 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\u2019s steadfast work to further advancing care and research for GSD children and finding a cure.\u201d<\/p>\n

\u201cIt is simply incredible that Dr. Weinstein and eight other members of his GSD program\u2019s team are moving to Connecticut,\u201d says Bruce T. Liang, dean of UConn School of Medicine. \u201cIt symbolizes their true commitment, selflessness and dedication \u2013 which mirrors ours– to GSD patients and stopping at nothing to find promising new treatments.\u201d<\/p>\n

Members of Weinstein\u2019s prestigious GSD program planning to join him in Connecticut include: Youngmok Lee, Ph.D., the program\u2019s 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.<\/p>\n

\u201cOur goal is to very soon finally find a cure for GSD and its complications,\u201d adds Weinstein. \u201cThe strong synergies and collaborative team science happening at UConn and Connecticut Children\u2019s is world class and the most fertile ground to make a GSD cure reality.\u201d<\/p>\n

\u201cIt is good to be back in Connecticut,\u201d shared Weinstein who attended college in the state and has cared for many patients here, especially in the West Hartford community. \u201cFor the last 20 years the Connecticut community has really been supportive of my ongoing GSD clinical research work,\u201d said Weinstein.<\/p>\n

Weinstein graduated from Connecticut\u2019s Trinity College and earned his medical degree at Harvard Medical School. At Boston Children\u2019s 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\u2019s before moving to Florida in 2005 to pursue gene therapy on dogs with naturally occurring GSD.<\/p>\n

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. \u00a0He 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.<\/p>\n

In addition to local GSD community outreach, Weinstein\u2019s team partners internationally with institutions and scientists in Argentina, Brazil, Canada, China, Faroe Islands, Israel, Mexico, and the Netherlands.<\/p>\n

\u201cDr. Weinstein\u2019s recruitment to UConn and Connecticut Children\u2019s 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,\u201d said Jim Shmerling, president and CEO of Connecticut Children\u2019s.<\/p>\n

For more information about Weinstein’s research, see the UConn Magazine story Free to Be Imperfect<\/a>.<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"

Dr. David A. Weinstein\u2019s program on Glycogen Storage Disease is the largest clinical and research effort of its kind in the world. <\/p>\n","protected":false},"author":98,"featured_media":116568,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"wds_primary_category":0,"wds_primary_series":0,"wds_primary_attribution":0,"footnotes":""},"categories":[2231,1868,179],"tags":[],"magazine-issues":[],"coauthors":[1873],"class_list":["post-116585","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-health-well-being","category-meds","category-uconn-health"],"pp_statuses_selecting_workflow":false,"pp_workflow_action":"current","pp_status_selection":"publish","acf":[],"publishpress_future_action":{"enabled":false,"date":"2026-06-17 02:29:32","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category","extraData":[]},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/posts\/116585","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/users\/98"}],"replies":[{"embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/comments?post=116585"}],"version-history":[{"count":11,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/posts\/116585\/revisions"}],"predecessor-version":[{"id":126893,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/posts\/116585\/revisions\/126893"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/media\/116568"}],"wp:attachment":[{"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/media?parent=116585"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/categories?post=116585"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/tags?post=116585"},{"taxonomy":"magazine-issue","embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/magazine-issues?post=116585"},{"taxonomy":"author","embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/coauthors?post=116585"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}