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Mitochondrial Replacement Therapy

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Dr. Michio Hirano, Chief of the Neuromuscular Division at Columbia University Medical Center, and Kris Engelstad MS CGC, a board-certified genetic counselor and program coordinator at Columbia University Medical Center, discuss Mitochondrial Replacement Therapy.

Learn more about MRT, also known in the media as three-person babies.

Topics of discussion include:

  • Family planning options are severely limited for women carriers of DNA mutations in the mitochondrial genome.
  • There is an urgent clinical need to develop IVF techniques to reduce/eliminate the transmission of mitochondrial genome DNA mutations from mother to offspring.
  • Mitochondrial replacement therapy (MRT) is a promising technique for female carriers.
  • Continued research and development of MRT is necessary for future clinical use.
  • Adult female carriers and their male partners can participate in this research by donating oocytes/sperm for the production of viable zygotes using MRT.
Event Summary Listen Now View Slides

About the Speaker

Dr. Michio Hirano

Dr. Michio Hirano is a Professor of Neurology and Chief of the Division of Neuromuscular Medicine at Columbia University Medical Center. For over 20 years, Dr. Hirano’s translational research focused on mitochondrial disease and inherited myopathies. His laboratory has identified novel causative genes for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), X-linked scapuloperoneal myopathy, primary coenzyme Q10 (CoQ10) deficiencies and has studied cell and mouse models of these and other diseases including thymidine kinase 2 (TK2) deficiency. He has also been investigating allogeneic hematopoetic stem cell transplantation for MNGIE, pharmacological therapies for TK2 deficiency and, with Kris Engelstad and Dr. Dieter Egli, mitochondrial replacement therapy. Since 2009, Dr. Hirano has directed the NIH U54-funded North American Mitochondrial Disease Consortium (NAMDC).

Kris Engelstad MS CGC

Kris Engelstad MS CGC, is a board-certified genetic counselor and a program coordinator at Columbia University Medical Center. For the past 15 years she has focused on clinical research in mitochondrial disorders, including: several clinical trials, natural history studies, NAMDC patient registry and biobank, and the Mitochondrial Replacement Therapy Survey.  She provides genetic counseling services for various clinical trials, a pediatric neuromuscular clinic and for adult and pediatric patients with mitochondrial disorders.

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