Medical Advisory Board Members

William G. Mackenzie, M.D. (Chairman)
Pediatric Orthopaedic Surgeon
Alfred I. duPont Hosp. For Children
P.O. Box 269
1600 Rockland Road
Wilmington, DE 19899
Phone: (302) 651-5890
Fax: (302) 651-5951

Michael C. Ain, M.D.
Associate Professor, Orthopaedic and Neurosurgery
Director, Orthopaedic Residency Program
Johns Hopkins Pediatric Orthopaedic Surgery
601 North Caroline St., Room 5253
Baltimore, MD 21287
Phone: (410) 955-3135
Fax: (443) 287-5995

Gary A. Bellus, M.D., Ph.D.
Clinical Genetics and Metabolic Services
University of Colorado / The Children's Hospital
13121 E. 17th Avenue, 8400
P.O. Box 6508
Aurora, CO 80045
Phone: (303) 724-2370 / (800) 458-6000
Fax: (720) 777-7322

Robert M. Bernstein, M.D.
Cedars-Sinai Medical Center
444 S San Vicente Blvd Suite 603
Los Angeles, CA 90048
Phone: (310) 423-5224
Fax: (310) 423-1528 

Michael B. Bober, M.D., Ph.D.
Assistant Professor of Pediatrics
Thomas Jefferson Medical College
Co-Director, Skeletal Dysplasia Program
Division of Medical Genetics
A.I. duPont Hospital for Children
1600 Rockland Road
Wilmington, DE 19803
Phone: (302) 651-5916

Erin Carter, MS, CGC
Clinical Coordinator/Genetic Counselor
The Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias
Hospital for Special Surgery
535 East 70th Street
New York, NY 10021
Telephone: (212) 774-7332
Fax: (212) 774-7827

Colleen Ditro, APN
Alfred I. duPont Hosp. For Children
P.O. Box 269
1600 Rockland Road
Wilmington, DE 19899
Phone: (302) 651-6326
Fax: (302) 651-5951

Angela Duker, MS, LCGC
Genetic Counselor
Division of Medical Genetics
A.I. duPont Hospital for Children
1600 Rockland Road
Wilmington, DE 19803
Phone: (302) 651-5916

Clair A. Francomano, M.D.*
Director, Adult Genetics
The Harvey Institute for Human Genetics
6701 N. Charles St., Suite 2326
Baltimore, MD 21204
Phone: (443) 849-3131
Fax: (443) 849-2919

Annie Geraci, RD, LD
Independent Provider

Colleen Gioffreda
Clinical Operations Program Administrator
Greenberg Center for Skeletal Dysplasias
McKusick-Nathans Institute of Genetic Medicine
Johns Hopkins University
600 N. Wolfe Street / Blalock 1008
Baltimore, MD 21287
[email protected]
Phone: (410) 614-0977
Fax: (410) 502-2375

Jacqueline T. Hecht, Ph.D.
Professor of Pediatrics
Vice Chair for Research
6431 Fannin St., Room 3.136
Houston, TX 77030
Phone: (713) 500-5764
Fax: (713) 500-5689

Scott Hoffinger, M.D.
Pediatric Orthopaedic Surgeon
Stanford University
6121 Hollis Street
Emeryville, CA 94608
Phone: (510) 587-9600
Fax: (510) 857-9569

Julie Hoover-Fong, M.D., Ph.D.
Director, Greenberg Center for Skeletal Dysplasias
McKusick-Nathans Institute of Genetic Medicine
Johns Hopkins University
600 N. Wolfe Street / Blalock 1008
Baltimore, MD 21287
Colleen Gioffreda, Assistant - [email protected]
Phone: (410) 614-0977
Fax: (410) 502-2375

Dan Hoernschemeyer M.D.
Assistant Professor
University of Missouri Hospital
Pediatric Orthopaedics
204 N. Keene St. ste. #102
Columbia, Missouri  65201
Niki Buckler, Assistant – [email protected]
Phone: (573) 882-1351
Fax:  (573) 884-9898

William A. Horton, M.D.
Director, Research Center
Shriners Hospital for Children
Professor of Molecular and Medical Genetics
Oregon Health & Science University
Portland, OR 97239
Phone: (503) 221-1537
Fax: (503) 221-3451

Richard Kerbavaz, M.D.
Otolaryngology-Head and Neck Surgery
East Bay Head and Neck Surgery
2316 Dwight Way
Berkeley, CA 94704
Phone (510) 845-4500
Fax (510) 845-0360

Deborah Krakow M.D.
International Skeletal Dysplasia Registry
UCLA – OHRC
615 Charles E. Young Drive, South, Suite 410
Los Angeles, CA 90095
Ortho.ucla.edu/isdr
Phone:  (310) 825-8998
Fax: (310) 206-5266
Alisa Zargaryan, Assistant - [email protected]
http://isdr.csmc.edu/

Carol A. Mathews, M.D.
Professor, Department of Psychiatry
University of Florida
Phone: (352) 265-7981

Michelle Moore, M.S., C.G.C.
Certified Genetic Counselor
Memorial Hospital
Maternal Fetal Medicine
1400 Boulder
Colorado Springs, CO 80909
Phone: (719) 365-5960
Fax: (719) 365-5977

Sarah Nikkel, M.D.
Clinical Geneticist
Provincial Medical Genetics Program
BC Women's Hospital and Health Centre
4500 Oak Street
Vancouver, BC V6H 3N1
Phone: (604) 875-3593
Fax:  (604) 875-2376

Ericka Okenfuss, M.S., C.G.C
Certified Genetic Counselor
Skeletal Dysplasia Clinic Coordinator
Kaiser Permanente - Genetics
1650 Response Road
Sacramento, CA 95815
Phone: (916) 614-5177
Fax: (916) 614-4768
[email protected]

Richard M. Pauli, M.D., Ph.D.*
Clinical Genetics Center - Room 353
University of Wisconsin
1500 Highland Ave.
Madison, WI 53706-2280
Phone: (608) 262-6228
Fax: (608) 263-3496

Cheryl S. Reid, M.D., FAAP, FACMG*
Medical Director, Horizon NJ Health
Mail: 5 Eaglebrook Court,
Moorestown, NJ 08057
[email protected]

Samantha A. Spencer M.D.
Assistant Professor in Orthopaedic Surgery, Harvard Medical School
Staff Physician, Boston Children's Hospital
Lower Extremity Team, Trauma, Vascular Anomalies, Skeletal Dysplasias and OI
Department of Orthopaedic Surgery
300 Longwood Avenue
Boston, MA 02115
Appointments: (617) 355-6021 AA Emily Woznick
Academic: (617) 355-6617 AA Joni D’Annolfo

George E. Tiller, M.D., Ph.D.
Regional Chief, Southern California Permanente Medical Group
Department of Genetics
Kaiser Permanente
Los Angeles Medical Center
4900 Sunset Blvd., 3rd Floor
Los Angeles, CA 90027
Phone: (323) 783-5612
Fax: (323) 783-5208

David Tunkel, M.D.
Director of Pediatric Otolaryngology
Professor of Otolaryngology - Head and Neck Surgery
Johns Hopkins University
601 N. Caroline St.
JHOC 6161 B
Baltimore, MD 21287
Phone: (410) 955-1559

Klane White, M.D.
Pediatric Orthopedic Surgeon
Seattle Children's Hospital
OA.9.120.1 - Orthopedics Administration 
4800 Sand Point Way NE 
Seattle, WA 98105
Phone: (206) 987-2109

Michael Wright, MB, ChB
Institute of Human Genetics
International Centre for Life
Central Parkway
Newcastle upon Tyne
NE 1 3BZ
United Kingdom
Phone: +44 191-241-8758
Fax: +44 191-241-8799
__________________________________________________________________________________________

Retired Members
*Honorary Life Members
**Deceased

Elizabeth R. Elder, M.S.
Retired Research Director

Ralph Lachman, M.D.
Retired

Dr. Len Langer**

Kathleen (Dee) Miller*
Retired Senior Clinical Program Coordinator
Greenberg Center for Skeletal Dysplasias

Mary Ann Priore*
Retired International Skeletal Dysplasia Registry
Cedars-Sinai Medical Center

David L. Rimoin, M.D., Ph.D.*/**
Director, Medical Genetics Institute
Steven Spielberg Chair and Distinguished Professor of Pediatrics
Cedars-Sinai Medical Center

Charles I. Scott, Jr., M.D.*
Co-Director, Skeletal Dysplasia Program
Division of Medical Genetics
A.I. duPont Institute

Joan O. Weiss
Retired MAB Member

This page was last updated 08/18/2016