World’s Top Researcher on Rare, Genetic Liver Disease Coming to Connecticut

Connecticut Children’s Medical Center and UCONN School of Medicine are excited to announce the appointment of Dr. David Weinstein, who will be bringing his world renowned Glycogen Storage Disease progam to Connecticut in early 2017.


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

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 impact 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 leading to seizure or potentially death, unless there is 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.

Sugar! Tasty Trouble?

Pat Esposito MS RD CD-N CNSC/Clinical Nutrition Manager at Connecticut Children’s

September is National Childhood Obesity Awareness Month and provides an opportunity for learning about ways to prevent and address this serious health concern. Pat Esposito, Clinical Nutrition Manager at Connecticut Children’s shares expert advice and asnwers your questions on sugar.

esposito_blog-postGuidelines for healthy eating are always changing….so what is a parent to do? The latest update from the American Heart Association suggests that sugar be limited to 6 teaspoons per day for both children and teens. But just how much is a teaspoon and how can you keep track of it? At times, you’d wish there was a mobile app to help! There are lots of questions, but the good news is, most of this all boils down to common sense.

Introducing children to new foods when they are young will build eating habits to last a lifetime so starting off right means getting them to eat vegetables, healthy sources of protein, and other food items that provide enough vitamins and minerals! But what about other foods?? A cupcake here, a cookie there…..are the ‘extras’ really that bad?

Let’s take into consideration that avoiding soda is now part of a new recommendation by AHA which states that children older than 2 years of age should have no more than 8 ounces of soda a week and children under 2 years of age should have none at all. But how do you say NO once your little one has had the taste of grandpa’s favorite soda?

You may be asking if just a sip of soda is really that bad…what if it’s just one time? The answer is yes! Sugary foods and beverages provide no nutrients whatsoever and when you child eats or drinks those items he or she is less likely to eat other vitamin and nutrient rich foods. So it is very important you wait until a child is older before introducing soda. Remember, limiting soda intake is a great first step in cutting down sugar intake!!

• Add a splash of unsweetened orange juice to a seltzer for older kids who want the FIZZ!
• Opt for water or milk for younger children…..don’t let them taste those sodas!!
• Limit sweet candy, cookies and cakes that have added sugar, fructose and honey!!
• Opt for fresh fruits for that healthy sweet and refreshing summer flavor!!


Lucas’s Story

By Jennifer, Lucas’s Mom

Lucas_MomentI call my son Lucas my little superhero. He is good natured, sweet, smart and the most loving boy you will ever meet. Lucas was diagnosed last year with Common Variable Immune Deficiency in the fall of 2015 after spending the first 18 months of his life sick with one infection or another.

Through every illness, no matter how high the fever was, Lucas was always being his chipper, happy go lucky little self. I spent a lot of time speaking to doctors, telling them there was something that wasn’t right about a child having the flu at 10 weeks old and getting sick several times a month. It was after his very last upper respiratory infection, that I was referred to Connecticut Children’s Medical Center.

In October of 2015, we were fortunate to be linked to Dr. Bennett and the Department of Infectious Diseases and Immunology at Connecticut Children’s. From that moment on, we knew we were in good hands. Lucas was later diagnosed with an immune deficiency and now receives Immunoglobulin infusions every three weeks to help strengthen his immune system.

kelly and lucasInfusion days are tough days for us as a family, however we are so grateful not only to have the support of Dr. Bennett, we are so grateful to have Kelly, from the Child Life Department, always available to give Lucas a little extra support. Lucas loves Kelly and asks for her every time we are in the hospital (He has even told me, “Mommy I want Kelly, Kelly pretty”).  We have found the role of Child Life to be vital during infusions, making the day just a little easier for us and for Lucas. Since this journey started at Connecticut Children’s, we have had so many supportive and amazing staff (Doctors, Nurses, Child Life) constantly by our side, helping him feel just a little better.

Lucas is my little superman, the sweetest and strongest little one around. He is braver than we could’ve ever asked for. My husband and I are so proud of who he is and look forward to watching him grow. Even during infusions, you can likely find Lucas giggling, dancing to Spanish music and being his happy-go-lucky little self. Connecticut Children’s Medical Center has been a blessing to our family and we are so thankful to have the hospital in our lives while Lucas gets better.

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Hyundai Brings Hope to the Sunflower Kids

In honor of Pediatric Cancer Awareness Month, Dr. Kerry Moss of the Center for Cancer and Blood Disorders  shares her speech from our Hyundai Hope on Wheels event this past summer. Hyundai awarded Connecticut Children’s a $50,000 IMPACT grant in support of our pediatric cancer research.

Good morning distinguished guests from the Hyundai Hope on Wheels Foundation, Dr. Jim Shmerling and of course Genevieve, her family and all the other children with us today.

IMG_8970I would like to begin by painting a quick picture for each of you…Imagine a place that when you enter its doors there are red ruby slippers and a picture of a yellow brick road.  There is a large aquarium and an interactive wall that allows butterflies to land on you…and on any given day the melodies of “Let it go”…or “Everything is Awesome” bellowing in the halls are only overshadowed by laughter.

On the wall is not only an inspirational quote, but if you will, a mantra for pediatric oncology patients. Well stated by Christopher Robbins to his dear friend Winnie the Pooh, it reads:  “Promise me you will always remember that you’re braver than you believe, stronger than you seem and smarter than you think.” If you have not yet guessed, I am describing our Center For Cancer and Blood Disorders on the 5th floor right inside this building.

I am always telling people that I have the best job in the world.  Each day I go to work, I am surrounded by the most amazing children…and furthermore the most dedicated and compassionate staff.  And while I fully acknowledge that the work we do is humbling, I am so proud of the field of medicine that I chose to enter.  Today, we happily boast that over 80% of children diagnosed with cancer will be cured of their disease.

hyundai hope check croppedEven I as I speak, there are dedicated scientists and researchers both at our institution and around the country working to develop new therapeutic agents and targeted treatments with the goal of finding a cure for all children.  Until that number is reached, the care we provide to the children that will not likely beat their illness is quite possibly the most important care we deliver.

The treatment of these children includes not only advanced cancer care therapeutic options, but the management of their pain and alleviation of their symptoms is of paramount importance as well.

It is in no small thanks to your kindness that this work can be done.

The name of our program, the sunflower kids, hails from the simple fact that the sunflower is known to be the most resilient flower. It can grow in the toughest of soil.  Much like sunflowers, our amazing patients and their families flourish in the face of adversity.  Whether our goal is cure or comfort, it is thanks to Hyundai that the work of this program will continue to grow and weather whatever tough soil might be ahead.

IMG_8959They often say that it is the little things that matter the most. On behalf of all of the little things…and the littlest people…I thank each and every one of you for being here today to support the work that we are doing.

Margaret Mead once said, “Never doubt that a small group of thoughtful, committed citizens can change the world.  Indeed it is the only thing that ever has.”

On behalf of Connecticut Children’s Medical Center for Cancer and Blood Disorders, our advanced cancer care team and the Sunflower Kids Program, I thank the Hyundai Hope on Wheels Foundation for this dubious honor and for your role in changing the world for countless children and adolescents in their arduous fight against cancer.