The Scientific Advisory Board of the AGSD is a group of medical professionals representing physicians and nutritionists who care for patients having Glycogen Storage Diseases, and scientists actively engaged in research pertaining to the genetics or the metabolic disruptions associated with Glycogen Storage Diseases. These professionals have graciously volunteered to share their expertise and knowledge of the Glycogen Storage Diseases with the AGSD.
The current members of the Scientific Advisory Board are:
Claudia Soler-Alfonso, MD., FACMG
Department of Molecular and Human Genetics
Baylor College of Medicine
Texas Children's Hospital
6701 Fannin St. Suite 1560
Houston, TX 77030
Phone: 832-822-4294
soler@bcm.edu
Stephanie L. Austin, MS, MA
Amicus Therapeutics
saustin@amicusrx.com
Bert E. Bachrach, MD – Co-Chairperson
Vice Chief of Staff, University of Missouri Hospitals and Clinics
Medical Director, Adolescent and Specialty Clinics
Chief of Pediatric Endocrinology/Diabetes
University of Missouri Children's Hospital
Columbia, MO
bachrachb@health.missouri.edu
Deeksha S. Bali, PhD
Director, Glycogen Storage Disease Laboratory
Biochemical Genetics Laboratory
Duke University Medical Center
Durham, NC
deeksha.bali@duke.edu
Salman Bhai, MD
Monica Boyer, CPNP
Children’s Health Orange County (CHOC) Children’s Specialist
Division of Metabolic Disorders
Orange, CA
mboyer@choc.org
Diva D. De León-Crutchlow, M.D., M.S.C.E.
Professor of Pediatrics
Perelman School of Medicine at the University of Pennsylvania
Chief, Division of Endocrinology and Diabetes
The Children’s Hospital of Philadelphia
Phone: 215-590-3174
Fax: 215-590-3053
Email: deleon@chop.edu
Areeg El-Gharbawy, MD, DSc
Associate Professor
Clinical and biochemical Geneticist
Department of Pediatrics- Division of Medical genetics
Duke University Medical Center
Durham, NC
areeg.el-gharbawy@duke.edu
Priya S. Kishnani, MD, Co-Chairman
C.L. and Sue Chen Professor of Pediatrics
Division Chief, Medical Genetics
Duke University Medical Center
Durham, NC
priya.kishnani@duke.edu
Youngmok Lee, Ph.D.
Assistant Professor
Glycogen Storage Disease Laboratory
Department of Pediatrics
UConn Health
400 Farmington Avenue | Farmington CT 06030
OFFICE:860.679.2067
LAB:860.679.2068
E-mail: yolee@uchc.edu
Kadakkal Radhakrishnan, MD
MRCP (UK), MRCPCH, FAAP
Pediatric Hepatologist & Gastroenterologist
Medical Director, Glycogen Storage Disease Program
Medical Director, Pediatric Nutrition Support and Intestinal Rehabilitation
Medical Director, Small Intestinal and Multi-Visceral Transplant
Assistant Professor, Cleveland Clinic Lerner College of Medicine
Case Western Reserve University
David Rodriguez Buritica, MD
About the associationThe Association for Glycogen Storage Disease - AGSD - was established in 1979 in order to create an organization which would be a focus for parents of and individuals with glycogen storage disease (GSD) to communicate, share their successes and concerns, share useful findings, provide support, create an awareness of this condition for the public, and to stimulate research in the various forms of glycogen storage diseases. This website provides basic information about the glycogen storage diseases. The information is intended to be of use to people affected by one of the glycogen storage diseases, their families, and other interested parties. Some forms of GSD cause little in the way of illness, while others are life threatening. Included in this site is a description of the general symptoms, associated problems, current treatment, and long-term outcome for the most commonly diagnosed glycogen storage diseases. It does not do justice to the difficulty patients and their families' experience, and their deep desire for improved forms of treatment or ultimately total correction. | ContactAssociation for Glycogen Storage Disease 1542 Flammang Dr. PMB 1004 Waterloo Iowa 50702 |