About Us

Parent Volunteers

Medical Advisors


Medical Advisors


Dr. Olaf Bodamer FACMG

Boston Children's Hospital

Hunnewell 539, 300 Longwood Ave.

Boston, MA  02215

Mark Korson, MD

Medical Director

Genetic Metabolic Center for Education

121 Loring Avenue, Suite 520

Salem, MA  01970

Stephen Cederbaum, MD
Mental Retardation Research Ctr./NPI
635 Charles E. Young Dr.
South Rm 347
Los Angeles, CA 90095-7332

Piero Rinaldo, MD, PhD
Biochemical Genetics Laboratory
Department of Laboratory Medicine
Mayo Clinic
200 First Street SW
Rochester, MN 55905

Kimberly A. Chapman, MD, PhD, FACMG

Assistant Professor of Pediatrics

Section of Genetics and Metabolism

Children's National Medical Center

111 Michigan Avenue, N.W.

Washington, D.C. 20010

Mendel Tuchman, MD

Vice Chairman for Research

Scientific Director, Children's Research Inst.

Professor of Pediatrics, Biochemistry & Molecular Biology

Children's National Medical Center
111 Michigan Avenue, NW
Washington, DC 20010-2970

Carla Cuthbert, PhD, FACMG, FCCMG

Chief, Newborn Screening and Molecular Biology Branch
And the Newborn Screening Quality Assurance Program
Division of Laboratory Sciences, NCEH,
Centers for Disease Control and Prevention
4770 Buford Highway, MS-F43
Atlanta, GA. 30341

Keiko Ueda, MPH, RD, LDN

Clinical Dietitian Specialist

Biochemical Diseases (Metabolism) Program

British Columbia Children's Hospital

4480 Oak Street, K3-211

Vancouver, BC V6H 3V4 CANADA

Elaina Jurecki, MS, RD
Biomarin Medical Information Services
105 Digital Drive
Novato, CA 94949

Charles P. Venditti MD, PhD
Genetic Disease Research Branch
National Human Genome Research
National Institutes of Health
Bldg 49, Room 4A56A
Bethesda, MD 20892-4472

Stephen G. Kahler, MD

Professor, Division of Clinical Genetics

Department of Pediatrics

University of Arkansas for Medical Sciences

Division of Clinical Genetics Slot 512-22

Arkansas Children's Hospital

800 Marshall St.

Little Rock, AR  72202-3591

Jerry Vockley, MD, PhD
Professor of Human Genetics and
Chief of Medical Genetics
Children's Hospital of Pittsburgh
3705 Fifth Avenue
Pittsburgh, PA 15213