Association for Glycogen Storage Disease

Association for
Glycogen Storage Disease

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AGSD Scientific Advisory Board

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

Walla Al-Hertani, MD, MSc, FRCPC, FCCMG, FACMG
Assistant Professor of Pediatrics, Harvard Medical School
Director of the Boston Children's Lysosomal Disease (BoLD) Program
Boston Children's Hospital
Medical Biochemical Geneticist and Clinical Geneticist
Department of Pediatrics
Division of Genetics and Genomics
Hunnewell Bldg, 5th floor
Boston, MA, 02115

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

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

Ronald G. Haller, MD
Professor of Neurology and Internal Medicine
Mary Quincy Parsons and Kelsey Louise Wright Professor
in Mitochondrial Disease Research
University of Texas Southwestern Medical Center at Dallas
Director, Neuromuscular Center
Institute for Exercise and Environmental Medicine
Dallas, TX
Ronald.Haller@UTSouthwestern.edu

Stephen G. Kahler, MD
Professor, Department of Pediatrics
Division of Genetics and Metabolism
University of Kentucky
Stephen.Kahler@uky.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

Stacey L Reason RN MScN EdD
President, International Association for Muscle Glycogen Storage Disease
1010 Park Lane
Dwight, ON P0A 1H0
Canada
stacey.reason@iamgsd.org

Krista Viau, PhD, RD, CSP
Boston Children's Hospital
Fegan 4 – Metabolism Clinic
300 Longwood Ave.
Boston, MA 02115
Krista.Viau@childrens.harvard.edu