Association for Glycogen Storage Disease

Association for
Glycogen Storage Disease

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Research Grants Awarded by the AGSD

Thanks to generous donations from GSD patients, their families and friends, the Association for Glycogen Storage Disease has had the opportunity to provide grants to serve as catalysts in treatment and/or research studies. The AGSD supports a broad range of research endeavors that will lead to better recognition, treatment, and an eventual cure for the Glycogen Storage Diseases.

We are currently focusing our research funds on the creation and maintenance of diagnosis and treatment guidelines for each type of glycogen storage disease. So far we have produced and published:

"Diagnosis and Management of Glycogen Storage Disease Type I: A Practice Guideline of the American College of Medical Genetics and Genomics"

Priya S. Kishnani, MD, Stephanie L. Austin, MS, MA, Deeksha S. Bali, PhD,
Anne Boney, MEd, RD, LDN, Stephanie Burns Wechsler, MD, and Dwight Koeberl, MD, PhD
Department of Pediatrics,
Duke University Medical Center,
Durham, North Carolina;

Jose E. Abdenur, MD,
Division of Metabolic Disorders,
Children's Hospital of Orange County,
Orange, California;

Pamela Arn, MD,
Division of Genetics,
Nemours Children's Clinic,
Jacksonville, Florida;

Wendy K. Chung, MD, PhD,
Department of Pediatrics and Medicine,
Columbia University Medical Center,
New York, New York;

David Dale, MD,
Departments of Medicine,
University of Washington,
Seattle, Washington;

Michael J. Somers, MD, and Joseph I. Wolfsdorf, MD, BCh,
Division of Endocrinology,
Boston Children's Hospital,
Boston, Massachusetts;

David A. Weinstein, MD, MMSc, and Aditi I. Dagli, MD,
Department of Pediatrics,
University of Florida College of Medicine,
Gainesville, Florida;

Michael S. Watson, PhD,
American College of Medical Genetics and Genomics,
Bethesda, Maryland

Glycogen Storage Disease Type III Diagnosis and Management Guidelines"

Priya S. Kishnani, MD, Stephanie L. Austin, MS, MA, Deeksha S. Bali, PhD,
Anne Boney, MEd, RD, LDN, Stephanie Burns Wechsler, MD,
and Areeg El-Gharbawy, MD,
Department of Pediatrics,
Duke University Medical Center,
Durham, North Carolina;

Laura E. Case, PT, DPT, MS, PCS,
Department of Community and Family Medicine,
Duke University Medical Center,
Durham, North Carolina;

Lisa D. Hobson-Webb, MD,
Department of Medicine,
Duke University Medical Center,
Durham, North Carolina;

Pamela Arn, MD,
Department of Pediatrics,
Nemours Children's Clinic,
Jacksonville, Florida;

Wendy K. Chung, MD, PhD,
Department of Pediatrics,
Columbia University Medical Center,
New York, New York;

Dev M. Desai, MD,
Departments of Surgery and Pediatrics,
University of Texas Southwestern Medical Center,
Dallas, Texas;

Ronald Haller, MD,
Departments of Neurology and Internal Medicine,
University of Texas Southwestern Medical Center,
Dallas, Texas;

G. Peter A. Smit, MD, PhD, and Alastair D. Smith, MB, ChB,
Department of Pediatrics,
University Medical Center Groningen,
Groningen, The Netherlands;

David A. Weinstein, MD, MMSc,
Department of Pediatrics,
University of Florida College of Medicine,
Gainesville, Florida;

Michael S. Watson, PhD,
American College of Medical Genetics,
Bethesda, Maryland

Studies previously awarded research grants included:

“Clinical and Molecular Evaluations in Glycogen Storage Disease Type IX”
Deeksha Bali, PhD
Director, Glycogen Storage Disease Laboratory,
Duke University,
Durham, NC

“Assessment of Relationship between Hyperlipidemia and Cardiovascular Disease in the Glycogen Storage Diseases”
Angelina Valladares, MD
Pediatric Endocrinology Fellow,
University of Florida College of Medicine,
Gainesville, FL

“Clinical and Molecular Evaluations of Cardiac Involvement in Glycogen Storage Disease Type III”
Priya S. Kishnani, MD,
Division Chief, Medical Genetics,
Duke University,
Durham, NC

“Cardiopulmonary and Metabolic Responses to Exercise in Type IIIa Glycogen Storage Disease: Impact of Glucose Administration on Oxygen Utilization and Lactate Formation, and Implications for Prevention of Muscle Damage”
Catherine E. Correia, B.S.
Research Coordinator, Glycogen Storage Disease Program,
University of Florida,
Gainesville, FL

“Attention Problems and Quality of Life in Youth with Glycogen Storage Disease”
Eric A. Storch, PhD
Assistant Professor of Psychiatry and Pediatrics,
University of Florida,
Gainesville, FL

“Clinical Evaluation of Portable Lactate Meter in Type I Glycogen Storage Disease”
Andrew C. Saunders, Henry A. Feldman, Catherine E. Correia,
and David A. Weinstein, MD
Children’s Hospital,
Boston, MA

“Inappropriate Expression of Hepcidin is Associated with Iron Refractor Anemia: Implications for the Anemia of Chronic Disease”
David A. Weinstein, MD
Children’s Hospital,
Boston, MA

“Gene Therapy in the Canine Model for Glycogen Storage Disease Ia”
Talmage Brown, DVM, PhD
North Carolina State University,
College of Veterinary Medicine,
Raleigh, NC

Dwight D. Koeberl, MD, PhD,
Duke University Medical Center,
Durham, NC

“Initiation of a Glycogen Storage Disease Canine Therapy Center”
Dwight D. Koeberl, MD, PhD,
Division of Medical Genetics,
Duke University Medical Center,
Durham, NC

“Use of DNA Microarrays to Study Gene Activation in Hepatic Adenomas in Type Ia Glycogen Storage Disease”
David A. Weinstein, MD
Division of Endocrinology,
Children’s Hospital,
Boston, MA

“Attempted Correction of Gene Therapy in Canine Glycogen Storage Disease with Adeno-Associated Virus (AAV) Vectors”
Dwight D. Koeberl, MD, PhD
Division of Medical Genetics,
Duke University Medical Center,
Durham, NC

“Attempted Correction of Genomic DNA in Patients with Type Ia Glycogen Storage Disease Using Chimeric RNA/DNA Oligonucleotides”
David A. Weinstein, MD
Fellow in Endocrinology, Children’s Hospital
Boston, MA

Evaluation of Novel GSD Therapies in the GSD Animal Model, Acid-alpha-Glucosidase Deficient (Pompe) Japanese Quail”
Yuan-Tsong Chen, MD PhD
Division of Medical Genetics,
Duke University Medical Center,
Durham, NC

“Expansion of the GSD DNA Bank to Include Type Ib and Type III”; and “Interviewing Carriers of GSD Ia to Ascertain Their Attitude and Opinions Regarding Carrier Testing”
Allyn McConkie-Rosell, MSW, CGC
Division of Medical Genetics,
Duke University Medical Center,
Durham, NC