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List of Mito Specialists

Physicians Offering Care to

Mitochondrial Disease Patients

* denotes dedicated mitochondrial disease program


Darryl Devivo, MD
Pediatric Neurology-Board Certified
New York Presbyterian Hospital
710 West 168th St.
New York, NY 10032
Phone: (212) 305-5244
Received degree from University of Virginia. Expertise in pediatric neuromuscular disease.  

David Holtzman, MD, PhD
Mass General Hospital for Children
Pediatric Neurology
55 Fruit Street
Boston, MA 02114
Phone: (617) 726-3402
Phone 2: (617) 724-6093
Board certified in Pediatrics and Neurology
Katherine Sims, MD*
Director, Neurogenetics and Mitochondrial Disorders Clinic
Massachusetts General Hospital
55 Fruit St.
Boston, MA 02114
Phone: (617) 726-5732
Graduate of Columbia University College of Physicians and Surgeons.
Board certified in Neurology with Special Competence in Child Neurology.
Professor of Neurology, Harvard Medical School.
Dr. Sims directs clinical diagnostic assessment of the Mitochondrial Disorders. She also heads Patient Clinical Registries and BioRepositories for mitochondrial, neuronal ceroid lipofuscinosis (NCL) and Norrie diseases.

Amel Karaa, MD*

Adult Mitochondrial Disease Clinic

Neurogenetics Unit

Massachusetts General Hospital

185 Cambridge Street, Suite 5240
Boston MA, 02114
Tel: 617 726 5732, Fax: 617 724 9620

Board certified in Internal Medicine and Clinical Genetics

Jeff Milunsky, M.D.


Co-Director, Center for Human Genetics, Inc.
Director, Clinical Genetics
Senior Director, Molecular Genetics
Center for Human Genetics, Inc.
Riverside Technology Center
840 Memorial Drive, Suite 101
Cambridge, MA. 02139


Julian Ambrus, MD
Buffalo General Hospital
100 High St.
Buffalo, NY 14203
Phone: (716) 859-2524
Phone: (716) 859-1399
Practices internal medicine and allergy & immunology.
Darius J Adams, MD*

Director, Jacobs Levy Equity Management Personalized Genomic Medicine Program
Division Head of Goryeb Pediatric Genetics and Metabolism
Clinical and Biochemical Geneticist
435 South St., Suite 220A
Morristown, NJ  07960

973-524-1898: Phone
973-290-7430 Fax

Marni Falk, MD*
Pediatrics Department, Human Genetics and Molecular Biology
Assistant Professor of Pediatrics
The Children's Hospital of Philadelphia
ARC 1002c
3615 Civic Center Blvd
Philadelphia, PA 19104
Phone: (215) 590-4564

Natasha Shur, MD

Director, Clinical Genetics and Inborn Errors of Metabolism
Children’s Hospital at Albany Medical Center
47 New Scotland Ave., MC-88
Albany, NY 12208
Ph – 518-262-5120
F – 518-262-5924

Amy Goldstein, MD
Pediatric Neurologist
University of Pittsburgh School of Medicine
Division of Child Neurology
4401 Penn Ave, Floor 2
Pittsburgh, PA 15224
Phone: (412) 692-5520
Gerard Berry*
Director, Metabolism Program
Professor of Pediatrics, Harvard Medical School
Children's Hospital Boston
300 Longwood Ave.
Enders 507
Boston, MA 02115
Phone: (617) 355-6394
Irina Anselm, MD*
Assistant professor in Neurology
New England Medical Center
300 Longwood Ave
Boston, MA 02115
Phone: (617) 355-2751
Specializes in general neurology and mitochondrial disorders.  In addition to being a doctor, she is also an assistant professor at the Harvard Medical School.
Basil Darras, MD*
Associate Neurologist in Chief for Clinical Services
Director, Neuromuscular Program
Children's Hospital Boston
Fegan 11
300 Longwood Ave
Boston, MA 02115
Phone: (617) 355-8235
Board certified in pediatrics, child neurology, and medical genetics.
Sal DiMauro*
Lucy G. Moses Professor of Neurology
Director,  H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases
Columbia University
630 W 168th St, #4-424B,
New York, NY 10032
Phone: (212) 305-2010
Has raised $6.4 million over five years from the National Institute of Child Health and Human Development for mitochondrial disease.
Michio Hirano, MD*
Professor of Neurology and Pathology & Cell Biology Neuromuscular Disease
Columbia University Medical Center
710 West 168th St
New York, NY 10032
Phone: (212) 305-1048
Clinical researcher and neurologist with expertise in neuromuscular disorders.

Andrea Gropman, MD
Children's National Medical Center
Faculty, Neurology
Center for Neuroscience Research
Children's National Medical Center
111 Michigan Ave, NW
Washington, DC 20010
Phone: (202) 476-2389
Professor at George Washington University and Georgetown University.
Carol Greene, MD
Director, Pediatric Genetics Clinic University of Maryland
Certification in Medical Genetics and Pediatrics
22 South Greene St.
Baltimore, MD 21201
Patient Appointments: (410) 328-2999
OR (410) 328-3335
Named one of Baltimore Magazine's 2010 "Top Docs" for Genetics.
Richard Kelley MD, PhD
Director, Division of Metabolism at Kennedy Krieger Institute
Pediatrics and Clinical Genetics
707 N. Broadway
Baltimore, MD 21205
Phone: (443) 923-9405
Spectrometry laboratory
Kennedy Krieger Institute
707 N. Broadway
Suite 500
Phone: (443) 923-2783
Fran Kendall MD*
Clinical Biochemical Geneticist
Adjunct Asst. Professor, University of Georgia
Founder, Managing Director, VMP Genetics
Mail: 5579 Chamblee Dunwoody Road, Ste. 110, Atlanta, GA 30338
Clinic: 1875 Old Alabama Road, Ste. 220, Roswell, GA 30076
Phone: (404)-720-0820  Fax: (866)-744-5665;

Created the first Mitochondrial Disease clinic in the US in the early 1990’s, pioneered many of the methods that are now standard of care for mitochondrial patients.


Shawn McCandless, MD, PhD

Department of Genetics
School of Medicine
Case Western Reserve University
Biomedical Research Building 622
2109 Adelbert Rd.
Cleveland, OH 44106
Phone: (216) 844-1612
Fax: (216) 368-3432
Marvin Natowicz, MD, PhD*
Clinical Pathology
Cleveland Clinic Main Campus
Mail Code S71
9500 Euclid Ave
Cleveland, OH 44195
Phone: (216) 445-5686
Bruce H. Cohen, MD*
Akron Children's Hospital
NeuroDevelopmental Science Center
Considine Professional Building
215 W. Bowery St., Suite 4400
Akron, OH 44308
Phone: 330-543-8050
Fax: 330-543-8054
Named to both Best Doctors in Ohio and Best Doctors in America.  Past president of the Mitochondrial Medicine Society.
Arthur Zinn, MD
University Hospitals of Cleveland
Center For Human Genetics
11100 Euclid Ave #1500
Cleveland, OH 44106
Phone: (216) 844-3936
Phone: (216) 844-5173
Fax: (216) 983-0221
Sumit Parikh, MD*
Center for Pediatric Neurology
Cleveland Clinic Main Campus
Mail Code S71
9500 Euclid Avenue
Cleveland, OH 44195
Phone (App): (216) 444-1994
Desk: (216) 445-8124
Dr. Parikh joined the Cleveland Clinic in 2004 and since 2007 he has been selected as one of "America's Best Doctors."
***Treats children and adolescents only***

Dmitriy Niyazov, MD

Ochsner Children's Health Center
1315 Jefferson Hwy.
New Orleans, LA 70121
Phone: 504-842-3900
Mary Kay Koenig, MD*
Assistant Professor, Department of Pediatrics
Division of Child and Adolescent Neurology
Mitochondrial Clinic Director
Tuberous Sclerosis Center Co-Director
6431 Fannin Street, MSB 3.153
Houston, Texas, 77030
Phone: (832) 325-7151
Mary Kay Koenig is involved at the Memorial Hermann Texas Medical Center and the University of Texas Medical School Department of Pediatrics.
Fernando Scaglia, MD
Associate Professor, Department of Molecular and Human Genetics
Baylor College of Medicine
Department of Molecular and Human Genetics
Baylor College of Medicine
One Baylor Plaza, MS BCM225
Houston, TX, 77030
Phone: (832) 822-4280
Fax: (832) 825-4294
Ronald Haller, MD, PhD
Internal medicine and neurology
Southwestern Medical Center
7232 Greenville Ave
Suite 435
Dallas, TX 75231
Phone: (214) 345-4611
UT Southwestern Medical Center at Dallas
5323 Harry Hines Blvd, Dallas, Texas 75390
Phone: (214) 345-4611,2356,12906,00.html
Dr. Pauline Filipek
Pediatric Neurology
University of Texas-Houston Medical School
7000 Fannin, Suite 2300
Houston, Texas 77030
Phone: (713) 500-3709
Fax: (713) 500-3705
Autism Center at the Children's Learning Institute
7000 Fannin, Suite 2453
Houston, TX 77030
(713) 500-3600
fax: (713) 383-1482


Richard Frye, MD, PhD
Arkansas Children's Hospital Research Institute            
13 Children's Way
Little Rock, AR 72202            
Phone: (501) 364-4662

Dwight D. Koeberl, MD, PhD

Associate Professor, Department of Pediatrics, Division of Medical Genetics/
Duke University Medical Center
GSRB I, Room 4048 
Research Drive
Durham, North Carolina 27710
Tel: (919)681-9919; FAX (919) 684-0983; Email:
Clinic contact Jennifer Sullivan, 919-681-1991


Russell P Saneto, DO, PhD*
Associate Professor, Neurology
Center for Clinical and Translational Research
Seattle Children's Hospital
4800 Sand Point Way NE
Seattle, WA 98105
Phone: (206) 987-2078
Selected as one of the "Outstanding Doctors in America" and "Best Pediatricians in America," Member of NW Mitochondrial Guild.
Dr. Michael Weiss
Associate Professor of Neurology
University of Washington Medical Center NEU
1959 North East Pacific Street Suite MS356169
Seattle, WA 98195
Phone: (206) 598-7688
Fax: 206.598.7698
Dr. Eric E. Kraus
Associate Professor of Neurology
University of Washington Medical Center NEU
1959 North East Pacific Street Suite MS356169
Seattle, WA 98195
Phone: (206) 598-7688
Fax: 206.598.7698
Suman Jayadev, M.D.
Acting Assistant Professor of Neurology
Research Affiliate, Center on Human Development and Disability
University of Washington Medical Center
1959 NE Pacific St
Seattle, WA 98195
Fax: 206.685.8100

Bryan Hainline, MD
Pediatrics, clinical genetics (board certified)
Indiana University Metab and General
975 W. Walnut St.
Suite 130
Indianapolis, IN 46202
Phone: (317) 274-3966
Riley Children's Hospital Indiana University
702 Barnhill Dr
Rm 0907
Indianapolis, IN 46202
Phone: (317) 274-1057
Laurence Walsh, MD
Medical Geneticist, Neurodevelopmental disabilities
IU Medical Genetics Services Inc
702 Barnhill Dr #1340
Indianapolis, IN 46202
Phone: (317) 278-5450
Indiana University Neurology
545 Barnhill Dr.
Suite 125
Indianapolis, IN 46202
Phone: (317) 298-9630
Fax: (317) 274-2384
Phone: (317) 948-7450
Fax: (317) 944-3622
Wendy Peltier, MD
Medical College of Wisconsin
9200 West Wisconsin Ave
Milwaukee, WI 53226
Phone: (414) 805-8710
Fax: (414) 955-0115


Richard H. Haas, MB, BChir, MRCP*

Professor of Neurosciences and Pediatrics
Director of UCSD Mitochondrial Disease Laboratory
Co-Director UCSD Mitochondrial and Metabolic Disease Center
UCSD Medical Center 0935
9500 Gilman Dr.
La Jolla, CA 92093
Cristal Melendez is the administrative assistant. She is in charge of coordinating visit dates and authorizing financial arrangements. She can be reached by phone at 619-543-7800 or by email at

Bruce Barshop, MD, PhD
Clinical Biochemical Genetics
Co-director at UCSD Biochemical Genetics Lab
9500 Gilman Drive
La Jolla, CA 92093
Phone: (619) 543-5237
3020 Children's Way
MC 0830
San Diego, CA 92123
Phone: (619) 543-7800

William Nyhan, M.D., Ph.D.
Head of the Division of Biochemcial Genetics
UCSD Biochemical Genetics Lab
9500 Gilman Drive
La Jolla, CA 92093

Greg Enns, MD*
Associate Professor
Director, Biochemical Genetics Program
Lucille Packard Children's Hospital at Stanford
Sees Patients At
          Medicine Specialties
          730 Welch Rd 2nd Floor
          Palo Alto, CA 94304
Mailing Address
          Medical Genetics Division
          300 Pasteur Dr.
          H315 MC 5208
          Stanford, CA 94305
Phone: (650) 723-6858
Arline and Pete Harman Endowed Faculty Scholar.
Robert K. Naviaux, MD, PhD*
Children's Specialists of San Diego Associate Professor In Residence
UC San Diego School of Medicine
The Mitochondrial and Metabolic Disease Center
200 W. Arbor Drive #8467
San Diego, CA 92103
Phone: (619) 543-2904
Taosheng Huang*
Director, MitoMed Diagnostic Lab School of Medicine
University of California, Irvine
314 Sprague Hall
Mail Code: 3950
Irvine, CA 92697
Phone: (949) 824-9346
Fax: (949) 824-9776 
Dr. Jose Abdenur
Medical Director of Metabolic Services and the PSF Chief of the Metabolic Disorders Division
Children's Hospital of Orange County
455 South Main Street
Orange, CA 92868
Phone: (714) 289-4511
Fax Number: (714) 289-4788
He is s board certified in Clinical Biochemical Genetics.

Johan Van Hove, MD, PhD
Genetics and Inherited Metabolic Diseases
Division Academic - Section Head, Clinical Genetics and Metabolism

Academic - Professor
Children’s Hospital Colorado

13123 E. 16th Avenue, B300
Aurora, CO 80045
Phone: (303) 724-2370


Dr. Sandra Sirrs

Medical Director
Adult Metabolic Diseases Clinic
Vancouver General Hospital
Diamond Health Care Centre
4th floor, 2775 Laurel Street
Vancouver BC V5Z 1M9
Phone: (1) 604-875-5965
fax: 604-875-5967
Dr. Anna Lehman
Child & Family Research Institute (CFRI)
Department of Medical Genetics
C234, 4500 Oak Street,
Vancouver BC V6H3N1
Phone: 604-875-2345 x6785
Fax:  604-875-2376
Dr. Gabriela Horvath
BC Children's Hospital
Room K3-200 4480 Oak St
Vancouver BC V6H 3V4 Canada
Phone: 604-875-2880
Mark Tarnopolsky, MD
Professor, Division of Neurology, Department Pediatrics and Medicine
Head, Neuromuscular and Neurometabolic Disease  
McMaster University
Health Sciences Centre    
Room   2H26 
1200 Main St. W. Hamilton Ontario L8N 3Z5
905-525-9140, Ext. 75226
Fax: 905-577-8380


Doug Turnbull*

Professor of Neurology
Mitochondrial Research Group
University of Newcastle upon Tyne
The Medical School
Framlington Place
Newcastle uponTyne
Phone: +44 (0) 191 222 8334
Fax: +44 (0) 191 222 8553

Dr. Susan Maisel

Peyton Manning Children's Hospital at St. Vincent
8402 Harcourt Rd., Suite 402
Indianapolis, IN 46260
(317) 338-9450
Dr. John Fortunato
Assistant Professor, Pediatrics
Center for Integrative Medicine
Internal Medicine-Gastroenterology
Brenner's Children's Hospital
Wake Forest Baptist Medical Center
Medical Center Boulevard
Winston Salem, NC 27157
New Patient Appointments: 336-716-WAKE
Returning Patient Appointments: 336-713-4500
Office: 336-713-4500
Fax: 336-716-7100

Dr. Harland Winter
Director, Pediatric Inflammatory Bowel Disease Center
Massachusetts General Hospital for Children
175 Cambridge Street, CRPZ 5-560
Boston, MA  02114
Appointment Phone for Patients: 617-726-8705
Phone for Canceling Appointments: 617 726-8705
Fax: 617 724-2710
Office Hours: 8:30 AM to 5:00 PM
Newton, MA
Newton-Wellesley Hospital
2014 Washington Street
Newton, MA  02462
Appointment Phone for Patients: 888-MGHfC4U (888-644-3248)
Appointment Phone for Physicians: 617 243-6585
Phone for Canceling Appointments: 617 243-6585
Fax: 617-243-6798
Office Hours: Wednesday 8:30 AM to 5:00 PM
Alex Flores, MD
Director and Chair of Ambulatory Community Services; Associate Physician Motility and Gastrointestinal Disorders
Boston Children's at Waltham
Gastroenterology, Hepatology and Nutrition
9 Hope Ave.

Waltham, MA 02453
Contact: 781-216-1800
Fax: 617-730-0496
Appointments: 617-355-6058

Dr. Anthony Lembo
Beth Israel Deaconess Medical GAS
330 Brookline Avenue Suite 105
Boston, MA 02215
Phone: (617) 667-2135
Dr. Braden Kuo
Massachusetts General Hospital
55 Fruit Street, Ste 3700
Boston, MA 02114
(617) 726-3010



Phil G. Morgan, MD

Department of Anesthesiology and Pain Medicine
Seattle Children's Hospital and University of Washington
4500 Sand Point Way
Seattle, WA 98105
ph. 206-987-2052
Board Certification: Anesthesiology, 1988

Maria Matuszczak MD
Professor of Anesthesiology
Department of Anesthesiology
Director of Pediatric Anesthesia, Acute Pediatric Pain,
Program Director Pediatric Anesthesia Fellowship
UT Houston, Medical School
office: MSB 5.186B
office phone 713 500 5075
Pager 713 606 7091


Anna DePold Hohler, MD
Assistant Professor of Neurology, Boston University School of Medicine, Boston MA Boston Medical Center

725 Albany Street
Suite 7B
Boston, MA 02118
Phone: (617) 638-8456
Fax: (617) 638-8465

Special interests: Parkinson's disease and autonomic dysfunction; Multiple system atrophy (shy-drager syndrome); Progressive supranuclear palsy; Corticobasal degeneration syndrome


Allen M. Segal, D.O.
Department of Rheumatology
Division of Internal Medicine
Premier Physicians Inc.
Fairview Hospital
Cleveland Clinic
18099 Lorain Ave
Suite 208
Cleveland, Ohio 44111
216-252-6282 office
216-252-6218 fax


Douglas C. Wallace

The Children's Hospital of Philadelphia
3615 Civic Center Boulevard
Philadelphia, PA 19104
Phone: (267) 425-3034

William Copeland, Ph.D
Principal Investigator and Chief, Laboratory of Molecular Genetics
P.O. Box 12233
Mail Drop E3-01
Research Triangle Park, North Carolina 27709
Phone: (919) 541-4792
Served as president of the Mitochondrion Research Society from 2005 to 2007 and is currently chair of the grants committee for the United Mitochondrial Disease Foundation.
Carlos Moraes
Professor of Neurology and Cell Biology & Anatomy
University of Miami School of Medicine
1095 NW 4th Terrace
Phone: (305) 243-5858
Gerald Shadel
Professor of Pathology and Genetics
Department of Pathology
Yale University School of Medicine
P.O. Box 208023
310 Cedar St. BML 371
New Haven, CT 06520
Phone: (203) 785-2475
Richard M. Showman
Associate Professor of Biological Sciences and Co-Director, Micromanipulation Laboratory
Phone: (803) 777-2457

Courtagen Life Sciences, Inc.

12 Gill Street, Suite 3700
Woburn, MA 01801
Phone: 877.395.7608 or 617.714.0315
Fax: 617.892.7191

John M. Shoffner
Clinical Biochemical Genetics
Medical Neuro Genetics
1 Dunwoody Parks Suite 250
Atlanta, GA 30338
Phone: (678) 225-0222
MitoMed Diagnostic Laboratory
University of California, Irvine
2014 Hewitt Hall
Irvine, CA 92697
(949) 824 1886
Steve Sommer, MD

Founder and President
426 N. San Gabriel Ave.
Azusa, CA 91702
Fax: 626-529-0907
Medical Genetics Laboratories
Baylor College of Medicine
One Baylor Plaza, NAB 2015
Houston, TX 77030
Client Services: 1-800-411-GENE (4363)
Fax: 713-798-2787
Craig Tuttle
Chief Executive Officer, President
12325 Emmet St.
Omaha, NE 68164
(888) 813-7253/ (402) 452-5400
Fax: (402) 452-5401
Gene Dx
207 Perry Parkway
Gathersburg, MD 20887
Fax: 301-519-2892

mitoscottie's picture



Yeah, MitoAction!  This is very valuable information and LONG OVERDUE.  Good for you to put this information on a page where it can readily be found!

Jean Shepherd

BillZ's picture



"Specialists" may not be the appropriate word for this list. Some exposure or experience with mito patients does not make a specialist. Educational & measurable training, continuing education, and practical experience is needed. Perhaps another word/description would be more accurate so that those seeking true specialists in the field are not directed to those described here based on simply personal opinion or hearsay. 

eflatley's picture



These are generally doctors that have a fairly broad amount of experience with mitochondrial disease, hence "specialist" seems to make sense in it's simplest form.  Let me start by saying this is a personal reaction, not on behalf of MitoAction.  But, as a working volunteer for MitoAction for the past few years, there are many people across the country that are seeking doctors that even understand the term "Mitochondrial Disease" with a reasonable amount of knowledge. As a collective resource, this list can be valuable, although I don't believe MitoAction is endorsing any of these doctors individually.  Some of these physicians have a broader patient base than others, and only a handful can offer the "gold standard" of fresh muscle biopsy as a diagnostic tool.   As with all physicians, there are multiple levels of experience and expertise, therefore personal recommendations can sometimes be helpful.   If you, or anyone, has specific concerns about a doctor on the list, because you don't feel that they have valid training based on your experience, please email your suggestion and details to    kind regards  /erin

LisaParker's picture



I was confused about this too. I agree that this list could be very misleading, especially to a newbie. It could do more damage than good.

I think it is a great idea to have a list but perhaps describe the professionals differently. Perhaps "mito friendly docs" :)

Cristy Balcells's picture

Cristy Balcells


I agree with the thoughts, but also want the list to be easy to find if someone is searching (hence the title). Truly, we would have to develop a rating system to tease out which doctors are "more Mito-focused" than others, but if you are searching for a doctor for the first time, at least you know that these doctors have directly expressed interest in clinical mitochondrial medicine.
Anyone who has experience with other clinicians on the list who could be added, please email me. I will reach out to that physician and ask their permission to add to this (growing) list!

Cristy Balcells RN MSN

Executive Director


JBennett's picture



I am new to mitoaction, but not new to mito. This could be a life saving issue - I have to agree with Lisa. The list is a great idea but misleading. These are "mito friendly docs" not speicalists.

I have had personal experience with the listed provider ("specialist") here on the list at Buffalo General Hospital. The experience was not positive and took years to recover from and find a proper neuro.

I see nothing wrong with the suggestion of having a list of "mito friendly" doctors, rather than specialists. It would be safer and may even save a life.

Feel free to contact 4 referrals and/or offices at the University at Buffalo involved in current research, as I am affiliated with the institution.      -J.Bennett

donegle's picture



Thanks to all for your service. What exacactly is meant and defines "a dedicated mitochondrial program" ? I'm in the mist of fighting my insurance company to pay for one of the docs on your list who has your star designation vs my last doc who I believe to not have adequate experience with mito. Don Egle
donegle's picture



Thanks to all for your service. What exacactly is meant and defines "a dedicated mitochondrial program" ? I'm in the mist of fighting my insurance company to pay for one of the docs on your list who has your star designation vs my last doc who I believe to not have adequate experience with mito. Don Egle
morgans mom's picture

morgans mom


I would add jonathan Strober, MD at UCSF pediatric neurology - he takes care of our daughter and has excellent knowledge of mito.
Pulm - Nancy Yuan at Stanford peds

SherylLeane's picture



I also live in the Buffalo area and was looking for a specialist when I saw your comment. Although it is from several years ago, if you see my note here, I'm wondering if you've had any luck finding a specialist in the area. Managing the pain, both physical and mental at this point, is a daily struggle and I've been turned down by many Drs. Or groups who say they won't treat mito. I'm hoping you've have more success than I have with locating someone in the greater Buffalo area that can help. Thanks.