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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
Gary A. Bellus, M.D., Ph.D.
Geisinger Medical Center – Pediatric Genetics
100 North Academy Avenue
Danville, PA 17822
Phone: (570) 271-6440
Fax: (570) 271-6002
Robert M. Bernstein, M.D.
Chief of Staff
Shriners Hospital for Children – Portland
3101 SW Sam Jackson Park Road
Portland, OR 97239
Phone: (503) 221-3424
Fax: (503) 221-3490
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
Jeffrey Campbell, M.D.
Pediatric Neurosurgery
Nemours / Alfred I. duPont Hospital For Children
1600 Rockland Road
Wilmington, DE 19899
Phone: (302) 651-5993
Fax: (302) 651-6410
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
Moise Danielpour, M.D.
Director of Pediatric Neurosurgery
Cedars-Sinai Medical Center
Maxine Dunitz Neurosurgical Institute
8631 W. Third Street, Suite 800 E.
Los Angeles, CA 90048
Phone: (310) 423-7900
Fax: (310) 423-7955
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
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
Mari Groves, M.D.
Pediatric Neurosurgery
Johns Hopkins Hospital
600 N. Wolfe Street
Phipps 554
Baltimore, MD 21287
Phone: (410) 955-7851
Fax: (310) 423-7862
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
George Jallo, M.D.
Clinical Practice Director of Pediatric Neurosurgery
Johns Hopkins All Children’s Hospital
601 Fifth Street
Suite 511
St. Petersburg, FL 33701
Phone: (727) 767-4879
Fax: (727) 767-8181
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/
Janet M. Legare, M.D.
Pediatrician/Genetics
University of Wisconsin - Madison
Bone Dysplasia Clinic
Waisman Center
1500 Highland Avenue
Madison, WI 53705
Phone: (608) 263-3301
Fax: (608) 262-0530
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]
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
Karen Turner, MPT
Pediatric Physical Therapy
Nemours / Alfred I. duPont Hospital For Children
1600 Rockland Road
Wilmington, DE 19899
Phone: (302) 409-6874
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
__________________________________________________________________________________________
Emeritus MAB members:
Michael C. Ain, M.D.
Retired, Associate Professor, Orthopaedic and Neurosurgery
Johns Hopkins Pediatric Orthopaedic Surgery
Elizabeth R. Elder, M.S.
Retired, Research Director
Steven Kopits, M.D. **
Associate Profesor, Orthopaedic Surgery
International Center for Skeletal Dysplasia
Ralph Lachman, M.D.
Retired, Professor, Pediatrics and Diagnostic Radiology
Stanford University
Len Langer, M.D.**
Radiologist, MAB charter member
Kathleen (Dee) Miller*
Retired Senior Clinical Program Coordinator
Greenberg Center for Skeletal Dysplasias
Richard M. Pauli, M.D., Ph.D.*
Retired, Professor, Clinical Genetics
University of Wisconsin
Mary Ann Priore*
Retired Coordinator, 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.*
Retired Co-Director, Skeletal Dysplasia Program
Division of Medical Genetics
Nemours / A.I. duPont Institute
Joan O. Weiss, ACSW
Retired, Director of Genetic Alliance
*Honorary Life Members
**Deceased
This page was last updated 02/02/2020
Disclaimer: The materials found on LPA’s website are for informational purposes only. LPA does not endorse any specific tests, physicians, products, procedures, opinions, or other information that may be mentioned on this website or at LPA-related events. Reliance on any information provided by this website, social media, workshops (at the local, regional, or national levels), LPA officers, LPA board members, or anyone else connected to LPA or the MAB is solely at your own risk.
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