Doctors in Your Area

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NORD Rare Disease Centers of Excellence

NORD has designated 31 Rare Disease Centers of Excellence nationwide. Each center offers the high-quality specialized care needed to help diagnose and manage complex rare diseases. Collaboration between these institutions creates critical new connections and improves access to best-in-class clinical care and resources.

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Nadine Benador, MD

Organization: Rady Children's Specialists of San Diego

Contact: 858-966-8052

Stephanie Cherqui, PhD

Organization: University of California, San Diego

Contact: 858-822-1023

Robert B. Ettenger, MD

Organization: University of California, Los Angeles

Contact: 310-825-0867

Ora Yadin, MD

Organization: University of California, Los Angeles

Contact: 310-206-6987



Dongmei Huang, MD

Organization: Upstate University Hospital

Contact: 315-464-6340

Qassim Abid, MD

Organization: Oklahoma Children's Hospital

Contact: 405-271-4211

Ken K. Nischal, MD, FAAP, FRCOphth

Organization: Children’s Hospital of Pittsburgh

Contact: 412-692-5918

Jacqueline Ho, MD

Organization: UPMC Children’s Hospital of Pittsburgh

Contact: 412-692-5303

Christina Nguyen, MD

Organization: UH Rainbow Babies and Children's Hospital

Contact: 216-844-1000

Lawrence R Shoemaker, MD

Organization: University of Florida Health

Contact: 352-265-8250

Dipal Patel, MD, PhD

Organization: Johns Hopkins Hospital

Contact: 410-955 5029

Christina Mejia, MD

Organization: Johns Hopkins Hospital

Contact: 410-955 5029

Fizza Fatima Naqvi, MD 

Organization: Johns Hopkins Hospital

Contact: 410-955-5029

Joshua J. Zaritsky, MD

Organization: Nemours Children's Specialty Care, Pensacola

Contact: 850-505-4700

Kathy Twombley, MD

Organization: Medical University of South Carolina

Contact: 843-792-8904

Neveen A Soliman, MBBCh, MSc, PhD

Organization: Kasr Al Ainy School of Medicine, Center of Pediatric Nephrology & Transplantation, Cairo University Children's Hospital, Egypt

Contact: nsoliman@kasralainy.edu.eg

Asha Mougdil, MD

Organization: Children's National

Contact: 202-476-5058

Sun Young Ahn, MD

Organization: Children's National

Contact: 202-476-5058

Eihab Al Khasawneh, MD

Organization: West Virginia University

Contact: 304-388-1552

Sharon Bartosh, MD

Organization: University of Wisconsin

Contact: 608-263-6420

Maria Helena Vaisbich Guimarãs

Organization: HC/FMUSP

Lorraine Bell, MD

Organization: McGill University Health Center

Contact: 514-412-4461

Allison Eddy, MD

Organization: BC Children’s Hospital/Vancouver

Contact: 604-875-2315

Guido Filler, MD

Organization: University of Western Ontario

Contact: 519-685-8377

Julian Midgley, MD

Organization:  Alberta Children's Hospital

Contact: 403-955-7997

Paul Goodyer

Organization: Montreal Children’s Hospital/McGill University

Contact: 514-412-4400 ext. 22584

Rulan Parekh, MD, MS, FRCP(C), FASN

Organization: The Hospital for Sick Children

Contact: 416-813-7654

Phillip Acott, MD

Organization: Halifax, Nova Scotia

Contact: 902-470-8195

Andrew House, MD

Organization: University Hospital London/Ontario

Contact: 519-663-3167

Robin Erickson, MD, PhD, FRCPC

Organization: University of Saskatchewan

Contact: 306-844-1231

Maury Pinsk, MD

Organization: University of Manitoba/Winnipeg

Contact: 204-787-4947

Kathy Jabs, MD

Organization: Vanderbilt University

Contact: 615-322-7416

Bettina Ault, MD

Organization: University of Tennessee Medical Center

Contact: 901-287-7337

Ewa Elenberg, MD

Organization: Texas Children's Hospital

Contact: 832-824-3800

Scott Walters, MD

Organization: Greenville Medical System/Greenville, SC

Contact: 864-454-5105

Rob Holleman, MD

Organization: Prisma Health

Contact: 803-434-7950

Michael Moritz, MD

Organization: Children’s Hospital of Pittsburgh

Contact: 412-692-5182

Susan Furth, MD

Organization: Children's Hospital of Pennsylvania

Contact: 215-590-2437

Amira Al-Uzri, MD

Organization: Oregon Health & Sciences University

Contact: 503-494-7327

Pascale Lane, MD

Organization: OU Medical Center

Contact: 405-271-4409

Mouin Seikaly, MD

Organization: Children’s Medical Center of Dallas

Contact: 214-648-3438

Kim Muczynski. MD

Organization: University of Washington

Contact: 206-598-6190

Raymond Quigley, MD

Organization: Children’s Medical Center of Dallas, Texas Health Presbyterian Hospital Dallas

Contact: 214-456-2980

Coral Hanevold, MD

Organization: Seattle Children’s Hospital

Contact: 206-987-2524

Daryl Okamura, MD

Organization: Seattle Children’s Hospital

Contact: 206-987-2524

Laurie Fouser, MD

Organization: Swedish Medical Center

Contact: 206-215-2700

Bethany M Coyne, PNP

Organization: Nurse University of Virginia School of Nursing

Contact: 434-924-2096

Victoria Norwood, MD

Organization: University of Virginia

Contact: 434-924-0000

Ann Guillot, MD

Organization: University of Vermont

Contact: 802-847-8840

Matthew Grinsell, MD

Organization: University of Utah

Contact: 801-587-7575

Christopher Hebert, MD

Organization: Baylor University Medical Center

Contact: 972-388-5970

Craig Wong, MD

Organization: University of New Mexico Hospitals

Contact: 505-272-3887

John Brandt, MD

Organization: University of New Mexico Hospitals

Contact: 505-272-6632

Kenneth Lieberman. MD

Organization: Hackensack University Medical Center

Contact: 551-996-8228

Joann Carlson, MD

Organization: Robert Wood Johnson University Hospital

Contact: 732-235-7880

Howard E Corey, MD

Organization: Atlantic Health System

Contact: 973-971-5649

Michael Chobanian, MD

Organization: Dartmouth-Hitchcock Medical Center

Contact: 603-653-3931

Teri Mauch, MD, PhD

Organization: University of Nebraska

Contact: 402-559-6780

Murty Adabala, MD

Organization: University of Nebraska

Contact: 402-559-7344

Patients referred to Seattle Children’s Hospital

Organization: Seattle Children’s Hospital

Contact: 206-987-2515

Maya Doyle, MSW

Organization: Children’s Hospital of Montefiore

Contact: 203-582-7844

Frederick Kaskel, MD, PhD

Organization: Children’s Hospital of Montefiore

Contact: 718-655-1120 

Donald Hricik, MD

Organization: Cleveland Medical Center

Contact: 216-844-8500

Monika Chaudhari, MD

Organization: Nationwide Children's Hospital

Contact: 614-722-4425

John D. Mahan, MD

Organization: Nationwide Children’s/OSU/Columbus

Contact: 614-722-4360

Rupesh Raina, MD

Organization: Cleveland Clinic

Contact: 330-436-3150

Stuart Goldstein, MD

Organization: Cincinnati Children’s Hospital

Contact: 513-636-4975

Maria Ferris, MD, MPH, PhD

Organization: University of North Carolina Chapel Hill

Contact: 984-974-1401

Uptal Patel, MD

Organization: Duke University

Contact: 919-684-8111

James Springate, MD

Organization: Children’s Hospital of Buffalo

Contact: 716-878-7275

Wayne Waz

Organization: Children’s Hospital of Buffalo

Contact: 716-323-0140

Stanley Paul Hmiel, MD

Organization: Cardinal Glennon Children’s Hospital/St. Louis University

Contact: 314-577-5662

Ellen Wood, MD

Organization: Cardinal Glennon Children’s Hospital/St. Louis University

Contact: 314-577-5662

Vikas Dharnidharka, MD

Organization: Washington University/St. Louis Children’s Hospital

Contact: 314-454-6043

Laurel Willig, MD

Organization: Children’s Mercy Hospital

Contact: 816-234-3000

Mehul Dixit, MD

Organization: University of Mississippi

Contact: 601-984-5970

Sabahat Afshan, MD

Organization: University of Mississippi

Contact: 601-984-5970

Chester Whitley, PhD, MD

Organization: University of Minnesota

Contact: 612-624-7975

Michelle A. Baum, MD

Organization: Boston Children’s Hospital

Contact: 617-355-6129

Eliot C. Heher, MD

Organization: Massachusetts General Hospital

Contact: 617-726-5277

Florian S. Eichler, MD

Organization: Massachusetts General Hospital

Contact: 617-724-7121

David Kershaw, MD

Organization: University of Michigan/C.S. Mott Children’s

Contact: 734-936-4210

Jess Thoene, MD

Organization: University of Michigan/C.S. Mott Children’s Hospital

Contact: 734-764-0579

Pat Gipson, MD

Organization: University of Michigan

Contact: 734-936-5548

Silas Norman, MD

Organization: University of Michigan

Contact: 734-647-9342

Richard Simon, MD

Organization: University of Michigan

Contact: 888-287-1084

Cheryl Tran, MD

Organization: Mayo Clinic

Contact: 507-284-2511

Carl H. Cramer, II, M.D.

Organization: Mayo Clinic

Contact: 507-284-2511

Blanche Chavers, MD

Organization: University of Minnesota

Contact: 612-672-7122

Julia Steinke, MD

Organization: DeVos Children’s Hospital

Contact: 616-267-2400

Rudolph Valentini, MD

Organization: Children’s Hospital of Michigan/Detroit

Contact: 313-745-5604

Uri S. Alon, MD

Organization: Children’s Mercy Kansas City

Contact: 816-234-3010

Bradley Warady, MD

Organization: Children’s Mercy Kansas City

Contact: 816-234-3010

Patrick Brophy, MD

Organization: University of Iowa Children’s Hospital

Contact: 319-356-7249

Jeffrey Leiser, MD

Organization: Riley Children’s Hospital/University of Indiana

Contact: 317-274-2563

Sharon Andreoli, MD

Organization: Riley Children’s Hospital/University of Indiana

Contact: 317-274-2563

Vineeta T. Swaroop, MD

Organization: Northwestern University Feinberg School of Medicine

Contact: 800-543-7362 

John J Friedewald, MD

Organization: Northwestern University

Contact: 312-695-8900

Michelle A. Josephson, MD

Organization: University of Chicago

Contact: 773-702-3630

Deepa Chand, MD

Organization: Rush University Medical Center

Contact: 312-942-3034

Aftab Chishti, MD

Organization: University of Kentucky

Contact: 859-218-1675

Sushil Gupta, MD

Organization: University of Louisville

Contact: 502-588-4970

Nancy M. Rodig, MD

Organization: Boston Children’s Hospital

Contact: 617-355-6129

Julie R. Ingelfinger, MD

Organization: Massachusetts General/Boston

Contact: 617-726-2000

Susan Mendley, MD

Organization: University of Maryland

Contact: 410-328-5303

Alicia Neu, MD

Organization: Johns Hopkins Hospital

Contact: 410-955-4427

Marie Tanzer, MD

Organization: Barbara Bush Children’s Hospital

Contact: 207-662-5522

Diego Aviles, MD

Organization: Children's Hospital, New Orleans

Contact: 504-896-9238

Isa Ashoor, MD

Organization: Children's Hospital, New Orleans

Contact: 504-896-9238

Samir M. El-Dahr, MD

Organization: Tulane General Pediatric Clinic

Contact: 504-988-5263

Ihor Yosypiv, MD

Organization: Children's Hospital and Tulane Medical Center

Contact: 504-988-6253

Cynthia Silva, MD

Organization: Connecticut Children's Medical Center

Contact: 860-545-9395

Jason Greenberg, MD

Organization: Yale Medicine

Contact:  203.785.4643

Amirtha V. Chinnadurai, MD

Organization: Yale Medicine

Contact: 203-785-4643

Bradley Dixon, MD

Organization: Children's Hospital Colorado

Contact: 720-777-1234

Mindy A. Banks, MD

Organization: Rocky Mountain Hospital For Children

Contact: 303-301-9010

Stanley Jordan, MD

Organization: Cedars-Sinai Medical Center

Contact: 310-423-2641

Lavjay Butani, MD

Organization: UC Davis, Children's Hospital

Contact: 800-823-4543

Craig B Langman, MD

Organization: Ann & Robert Lurie Children’s Hospital/Northwestern

Contact: 312-227-6555

Valerie Panzarino, MD

Organization: Johns Hopkins All Children's Department of Pediatric Medicine

Contact: 813-259-8760

Joseph Warren, MD

Organization: Nephrology Associates of Central Florida

Contact: 407-894-4693

Carolyn Abitbol, MD

Organization: University of Miami

Contact: 305-585-6726

Rekha Agrawal, MD, FAAP

Organization: Loyola University Chicago

Contact: 888-584-7888

James Musgrave, MD

Organization: University of Hawaii/Honolulu

Contact: 808-373-7500

Stephanie M Jernigan, MD

Organization: Emory University/Children’s Hospital of Atlanta

Contact: 404-785-5437

Barry Warshaw, MD

Organization: Emory University/Children’s Hospital of Atlanta

Contact: 404-785-5437

Laurence Greenbaum, MD

Organization: Emory University/Children’s Hospital of Atlanta

Contact: 404-785-5437

Carlos E. Araya, MD

Organization: Nemours Children's Hospital

Contact: 407-650-7715

Ivy I Boydstun, MD

Organization: Joe DiMaggio Children’s Hospital

Contact: 954-265-9344

Joshua J. Zaritsky, MD

Organization: Phoenix Children's

Contact: 602-903-1532

Patients are referred to Seattle Children’s Hospital

Organization: Seattle Children’s Hospital

Contact: 206-987-2515

Roslyn Mannon, MD

Organization: University of Alabama

Contact:  205-934-7220

Daniel Feig, MD, PhD, MPH

Organization: Children's of Alabama

Contact: 205-638-9781

Mark Benfield, MD

Organization: Pediatric Nephrology of Alabama

Contact: 205-558-3200

Carol Walker Bassim, DMD, MS

Organization: National Institutes of Health (NIH)

Contact: bassimc@nidcr.nih.gov

Galina Nesterova, MD

Organization: National Institutes of Health (NIH)

Contact: nesterovag@mail.nih.gov

Joy Bryant, Nurse Specialist

Organization: National Institutes of Health (NIH)

Contact: bryantjo@mail.cc.nih.gov  

Gina-Marie Barletta, MD

Organization: Phoenix Children's

Contact: 602-903-1532

Richard Blaszak, MD

Organization: Arkansas Children's Hospital

Contact: 501-364-4000

Lieuko Nguyen, MD

Organization: Rady Children's Specialists of San Diego

Contact: 858-966-8052

William A. Gahl, M.D., Ph.D.

Organization: National Institutes of Health (NIH)

Contact: 301-402-2739

Ora Yadin, MD

Organization: University of California, Los Angeles

Contact: 310-206-6987

Mary Leonard, MD, MSCE

Organization: Stanford University

Contact: 650-724-0353

Paul Grimm, MD

Organization: Lucile Packard Children's Hospital Stanford

Contact: 650-723-7903

Minnie Sarwal, MD, PhD

Organization: University of California, San Francisco

Contact: 415-353-4043

Stephanie Cherqui, PhD

Organization: University of California, San Diego

Contact: 858-822-1023

Nadine Benador, MD

Organization: Rady Children's Specialists of San Diego

Contact: 858-966-8052

Robert Mak, MD, PhD

Organization: Rady Children's Specialists of San Diego

Contact: 858-966-8052

Robert B. Ettenger, MD

Organization: University of California, Los Angeles

Contact: 310-825-0867