Amel Karaa, MD
Amel Karaa, MD
Director, Mitochondrial Disease Program
Director, Lysosomal Disorders Program
Departments, Centers, & Programs:
Mass General for Children: Genetics Program
55 Fruit St.
Yawkey Center for Outpatient Care
Boston, MA 02114
- MD, Faculte de Medecine de Tunis
- Fellowship, Boston Children's Hospital
- Fellowship, Brigham and Women's Hospital
American Board Certifications
- Clinical Genetics (M.D.), American Board of Medical Genetics
Accepted Insurance Plans
Note: This provider may accept more insurance plans than shown; please call the practice to find out if your plan is accepted.
As a clinician-scientist, Dr. Karaa endeavored to provide excellent clinical care, and therapeutics opportunities for patients with mitochondrial and lysosomal diseases. She has established a specialized program to care for both patients populations that serves hundreds of patients each year. Dr. Karaa has a strong national and international reputation as a clinical expert in Mitochondrial diseases. She is the 2013 United mitochondrial disease foundation (UMDF) fellow, site PI in the NIH North American Mitochondrial Disease Consortium (NAMDC), where she chairs the planning and implementation of new study task force and conducts research on trying to identify the molecular basis of patients with symptoms compatible with a mitochondrial disease. She is on the scientific/medical board of the UMDF, medical board of the national advocacy group MitoAction and as of June 2018, the upcoming president of the Mitochondrial Medicine society (MMS). Through the MMS, she has helped revise the guidelines for patients’ diagnosis and management for mitochondrial disease. Most recently, I was part of the founding and a board member of the mitochondrial care network (MCN) to develop and implement mitochondrial centers of excellence in the US as a collaborative effort between the MMS and the mitochondrial disease advocacy groups. Dr. Karaa has also been conducting clinical research on mitochondrial and lysosomal storage diseases and is a principal investigator and the lead on several clinical trials and multiple ongoing projects developing new outcome measure tools for mitochondrial and lysosomal storage disorders.
- Karaa A, Goldstein A. The Spectrum of Clinical Presentation, Diagnosis and Management of Mitochondrial Forms of Diabetes. Pediatric Diabetes 2015 Feb;16(1):1-9.
- Zar-Kessler C, Karaa, A, et al. Gastrointestinal Manifestations of Fabry Disease in Childhood: The Necessity of Prompt Recognition. Therap Adv Gastroenterol 2016, 9(4):626-34.
- Koenig MK, Emrick L, Karaa A, et al. Recommendations for the management of Stroke-like episodes in Patients with Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes. JAMA Neurology JAMA Neurol. 2016;73(5):591-594.
- Parikh S, Karaa A, Goldstein A, et al. Solid Organ transplantation in primary mitochondrial disease: Proceed with caution. Mol Genet Metab 2016, 18(3):178-84.
- Karaa A, Kriger J, et al. Mitochondrial disease patient’s perception of dietary supplements. Mol Genet Metab. 2016. S1096-7192(16)30127-5.
- Parikh, A. Goldstein, A. Karaa et al. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.
- Amel Karaa, Richard Haas, et al. Randomized Dose-Escalation Trial of Elamipretide in Adults with Primary Mitochondrial Myopathy. 2018 Mar 2.
- Amel Karaa, Ibrahim Elsharkawi, et al. Effects of mitochondrial disease/dysfunction on pregnancy: A retrospective study. Mitochondrion, 2018, ISSN 1567-7249.