The NAMDC Fellowship Program offers a unique training opportunity to senior postdoctoral clinical fellows who we anticipate will move on to the attending/assistant professor level in an academic setting as well-trained clinician scientists. The focus remains on translational medicine, teaching of diagnostic expertise and the development of clinical trials expertise.
We aim to train the first of a new generation of clinician scientists who will be well equipped to move the promising new treatments for mitochondrial disease into the clinical arena. We plan to expand the program from seven training sites to nine. Our current sites include;Columbia, San Diego, Seattle, Cleveland, Hamilton, CHOP, and University of Florida. In this proposal we wish to add Baylor and University of Colorado at Denver. All are leading institutions in the new field of mitochondrial medicine. Each site brings a novel set of training experiences. World renowned faculty are to be found at each site. The initial exposure to mitochondrial patients, diagnosis and treatment will be provided during 3 to 6 months at UCSD in the Mitochondrial and Metabolic Disease Center. In this period an intensive clinical trials training program is required through the CREST program. Fellows will then choose to visit two or more consortium sites for periods from 1 to 3 months where a rich and varied training experience will be provided. The program will continue to be held together by regular telemedicine WebEx conferences involving all consortium sites. Data sharing is underway at all sites through the NAMDC database which the fellows will be actively involved with both at the patient entry level and analytically. At the end of their training the fellows will be encouraged to write a K award application.

Public Health Relevance

; Patients suffering from mitochondrial disease present complex medical management challenges ranging from diagnosis through treatment. With multi-organ system involvement patients may present in any subspecialty clinic or acutely in the emergency room. Clinical trial design is particularly challenging because of the heterogeneity of molecular causes and clinical presentations. This fellowship program is designed to produce mitochondrial medicine specialists who will advance diagnosis and treatment.

National Institute of Health (NIH)
National Institute of Neurological Disorders and Stroke (NINDS)
Specialized Center--Cooperative Agreements (U54)
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Special Emphasis Panel (ZTR1)
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Gwinn, Katrina
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Columbia University (N.Y.)
New York
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Merkel, Peter A; Manion, Michele; Gopal-Srivastava, Rashmi et al. (2016) The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J Rare Dis 11:66
Shen, Lishuang; Diroma, Maria Angela; Gonzalez, Michael et al. (2016) MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. Hum Mutat 37:540-8
Engelstad, Kristin; Sklerov, Miriam; Kriger, Joshua et al. (2016) Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy. Hum Reprod 31:1058-65
Karaa, Amel; Kriger, Joshua; Grier, Johnston et al. (2016) Mitochondrial disease patients' perception of dietary supplements' use. Mol Genet Metab 119:100-8
Marin, Samantha E; Saneto, Russell P (2016) Neuropsychiatric Features in Primary Mitochondrial Disease. Neurol Clin 34:247-94
Al-Mehmadi, Sameer; Splitt, Miranda; For DDD Study group* et al. (2016) FHF1 (FGF12) epileptic encephalopathy. Neurol Genet 2:e115
Huang, Xiaoping; Bedoyan, Jirair K; Demirbas, Didem et al. (2016) Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. Mol Genet Metab :
Saneto, Russell P (2016) Alpers-Huttenlocher syndrome: the role of a multidisciplinary health care team. J Multidiscip Healthc 9:323-33
Torres-Torronteras, Javier; Cabrera-Pérez, Raquel; Barba, Ignasi et al. (2016) Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy. Hum Gene Ther 27:656-67
Servián-Morilla, Emilia; Takeuchi, Hideyuki; Lee, Tom V et al. (2016) A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. EMBO Mol Med 8:1289-1309

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