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Authors
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Robert Henry Levi and Ryda Hecht Levi Professor of Bioethics and Public Policy at Johns Hopkins Berman Institute of BioethicsJeffrey Kahn, PhD, MPH
Robert Henry Levi and Ryda Hecht Levi Professor of Bioethics and Public Policy at Johns Hopkins Berman Institute of BioethicsRobert Henry Levi and Ryda Hecht Levi Professor of Bioethics and Public Policy at Johns Hopkins Berman Institute of Bioethics
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Clinical Geneticist at Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PAMarni Falk, MD
Clinical Geneticist at Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PAClinical Geneticist at Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA
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Experts
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Professor, Department of Neurology and Cell Biology at University of Miami Leonard M. Miller School of MedicineCarlos Moraes, PhD
Professor, Department of Neurology and Cell Biology at University of Miami Leonard M. Miller School of MedicineProfessor, Department of Neurology and Cell Biology at University of Miami Leonard M. Miller School of Medicine
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Pediatrician, Neonatal (NICU) hospitalist, Medical Biochemical Geneticist, Clinical Geneticist, Co-Director of Pediatric Integrative Medicine (PIM) Residency program, Stanford Children's Hospital & Stanford University, California, USAAnnakaisa Niemi, MD, PhD, FAAP, FACMG
Pediatrician, Neonatal (NICU) hospitalist, Medical Biochemical Geneticist, Clinical Geneticist, Co-Director of Pediatric Integrative Medicine (PIM) Residency program, Stanford Children's Hospital & Stanford University, California, USAPediatrician, Neonatal (NICU) hospitalist, Medical Biochemical Geneticist, Clinical Geneticist, Co-Director of Pediatric Integrative Medicine (PIM) Residency program, Stanford Children's Hospital & Stanford University, California, USA
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Member, Senate of the Dutch Parliament, Associate Professor of Medical Ethics at University Medical Center UtrechtAnnelien Bredenoord, PhD
Member, Senate of the Dutch Parliament, Associate Professor of Medical Ethics at University Medical Center UtrechtMember, Senate of the Dutch Parliament, Associate Professor of Medical Ethics at University Medical Center Utrecht
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Director, OHSU Oocyte Donation Program, Associate Professor at Oregon Health and Science UniversityPaula Amato, MD, MCR
Director, OHSU Oocyte Donation Program, Associate Professor at Oregon Health and Science UniversityDirector, OHSU Oocyte Donation Program, Associate Professor at Oregon Health and Science University
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Professor and Canada Research Chair in Bioethics and Philosophy, Dalhousie University, CANADAFrancoise Baylis, PhD, FRSC, FCAHS
Professor and Canada Research Chair in Bioethics and Philosophy, Dalhousie University, CANADAProfessor and Canada Research Chair in Bioethics and Philosophy, Dalhousie University, CANADA
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Genetic Counselor, Study Coordinator, Department of Neurology at Columbia University in the City of New YorkKristin Engelstad, MS, CGC
Genetic Counselor, Study Coordinator, Department of Neurology at Columbia University in the City of New YorkGenetic Counselor, Study Coordinator, Department of Neurology at Columbia University in the City of New York
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Professor of Clinical Genomics of Mitochondrial Diseases, Director of the Genome Center, at Maastricht UniversityHubert Smeets, PhD
Professor of Clinical Genomics of Mitochondrial Diseases, Director of the Genome Center, at Maastricht UniversityProfessor of Clinical Genomics of Mitochondrial Diseases, Director of the Genome Center, at Maastricht University
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Research Associate, Centre of Medical Law and Ethics, The Dickson Poon School of Law at King's College LondonJohn Appleby, PhD
Research Associate, Centre of Medical Law and Ethics, The Dickson Poon School of Law at King's College LondonResearch Associate, Centre of Medical Law and Ethics, The Dickson Poon School of Law at King's College London
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Research Associate at Wellcome Trust Centre for Mitochondrial Research, Newcastle UniversityLyndsey Craven, PhD
Research Associate at Wellcome Trust Centre for Mitochondrial Research, Newcastle UniversityResearch Associate at Wellcome Trust Centre for Mitochondrial Research, Newcastle University
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Professor of Mitochondrial Genetics, Nuffield Department of Obstetrics and GynecologyJoanna Poulton, DM, FRCP
Professor of Mitochondrial Genetics, Nuffield Department of Obstetrics and GynecologyProfessor of Mitochondrial Genetics, Nuffield Department of Obstetrics and Gynecology
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Research Assistant Professor, Dr. J.T. Macdonald Foundation Department of Human Genetics, Institute for Bioethics and Health Policy, John P. Hussman Institute for Human Genomics, and Interdisciplinary Stem Cell Institute at University of Miami Miller School of MedicineRosario Isasi, JD, MPH
Research Assistant Professor, Dr. J.T. Macdonald Foundation Department of Human Genetics, Institute for Bioethics and Health Policy, John P. Hussman Institute for Human Genomics, and Interdisciplinary Stem Cell Institute at University of Miami Miller School of MedicineResearch Assistant Professor, Dr. J.T. Macdonald Foundation Department of Human Genetics, Institute for Bioethics and Health Policy, John P. Hussman Institute for Human Genomics, and Interdisciplinary Stem Cell Institute at University of Miami Miller School of Medicine
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Laboratory of Pediatric Infectious Diseases, Radboud Institute for Molecular Life Sciences at Radboud University Medical CenterGer P.A. Bongaerts, PhD
Laboratory of Pediatric Infectious Diseases, Radboud Institute for Molecular Life Sciences at Radboud University Medical CenterLaboratory of Pediatric Infectious Diseases, Radboud Institute for Molecular Life Sciences at Radboud University Medical Center
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Lead Moderators
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Resident in Obstetrics and Gynecology at Obstetrics and GynecologyPietro Bortoletto, MD
Resident in Obstetrics and Gynecology at Obstetrics and GynecologyResident in Obstetrics and Gynecology at Obstetrics and Gynecology
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Moderators
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OB/GYN Resident at Brigham and Women's Hospital and Massachusetts General HospitalEduardo Hariton, MD, MBA
OB/GYN Resident at Brigham and Women's Hospital and Massachusetts General HospitalOB/GYN Resident at Brigham and Women's Hospital and Massachusetts General Hospital
About the Discussion
@NEJM Ask the Authors & Experts: Mitochondrial Replacement Techniques--Implications for the Clinical Community
PERSPECTIVE
Mitochondrial Replacement Techniques — Implications for the Clinical Community
Marni J. Falk, M.D., Alan Decherney, M.D., and Jeffrey P. Kahn, Ph.D., M.P.H.
N Engl J Med 2016; 374:104 | February 24, 2016 | DOI: 10.1056/NEJMp1600893
BACKGROUND
Mitochondrial DNA (mtDNA) disease may be the poster child for highly targeted, “personalized” medicine. These rare disorders have well-defined genetic causes: more than 400 known pathogenic mutations or deletions in the 16,569-base-pair, mitochondrial chromosome that encodes only 37 genes. Affected persons may present at any age with some combination of severe, often progressive, and sometimes fatal neurologic, musculoskeletal, cardiac, gastrointestinal, renal, ophthalmologic, and audiologic involvement. No cures or therapies have been approved by the Food and Drug Administration (FDA) for any mtDNA disease, although symptom-based clinical management can be beneficial.
Reproductive scientists have focused on preventing transmission by replacing the mitochondria harboring disease-causing mutations in a carrier mother’s oocytes or zygotes with mitochondria containing healthy mtDNA genomes (see diagram). Since the mtDNA genome is quarantined within mitochondria, separated from the 20,000-plus genes residing in each cell’s nucleus, it seems easiest to replace mutated mitochondria with healthy mitochondria from oocytes donated by another woman. Mitochondria are inherited only through the maternal germline, so those in an oocyte or zygote would theoretically need to be replaced only once to prevent the clinical sequelae of inherited mtDNA disease from manifesting in the child and, if that child was female, in her future offspring.
Originally Appeared in The New England Journal of Medicine on February 24, 2016.
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Authors
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Robert Henry Levi and Ryda Hecht Levi Professor of Bioethics and Public Policy at Johns Hopkins Berman Institute of BioethicsJeffrey Kahn, PhD, MPH
Robert Henry Levi and Ryda Hecht Levi Professor of Bioethics and Public Policy at Johns Hopkins Berman Institute of Bioethics
Robert Henry Levi and Ryda Hecht Levi Professor of Bioethics and Public Policy at Johns Hopkins Berman Institute of Bioethics
-
Clinical Geneticist at Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PAMarni Falk, MD
Clinical Geneticist at Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA
Clinical Geneticist at Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA
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Experts
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Professor, Department of Neurology and Cell Biology at University of Miami Leonard M. Miller School of MedicineCarlos Moraes, PhD
Professor, Department of Neurology and Cell Biology at University of Miami Leonard M. Miller School of Medicine
Professor, Department of Neurology and Cell Biology at University of Miami Leonard M. Miller School of Medicine
-
Pediatrician, Neonatal (NICU) hospitalist, Medical Biochemical Geneticist, Clinical Geneticist, Co-Director of Pediatric Integrative Medicine (PIM) Residency program, Stanford Children's Hospital & Stanford University, California, USAAnnakaisa Niemi, MD, PhD, FAAP, FACMG
Pediatrician, Neonatal (NICU) hospitalist, Medical Biochemical Geneticist, Clinical Geneticist, Co-Director of Pediatric Integrative Medicine (PIM) Residency program, Stanford Children's Hospital & Stanford University, California, USA
Pediatrician, Neonatal (NICU) hospitalist, Medical Biochemical Geneticist, Clinical Geneticist, Co-Director of Pediatric Integrative Medicine (PIM) Residency program, Stanford Children's Hospital & Stanford University, California, USA
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Member, Senate of the Dutch Parliament, Associate Professor of Medical Ethics at University Medical Center UtrechtAnnelien Bredenoord, PhD
Member, Senate of the Dutch Parliament, Associate Professor of Medical Ethics at University Medical Center Utrecht
Member, Senate of the Dutch Parliament, Associate Professor of Medical Ethics at University Medical Center Utrecht
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Director, OHSU Oocyte Donation Program, Associate Professor at Oregon Health and Science UniversityPaula Amato, MD, MCR
Director, OHSU Oocyte Donation Program, Associate Professor at Oregon Health and Science University
Director, OHSU Oocyte Donation Program, Associate Professor at Oregon Health and Science University
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Professor and Canada Research Chair in Bioethics and Philosophy, Dalhousie University, CANADAFrancoise Baylis, PhD, FRSC, FCAHS
Professor and Canada Research Chair in Bioethics and Philosophy, Dalhousie University, CANADA
Professor and Canada Research Chair in Bioethics and Philosophy, Dalhousie University, CANADA
-
Genetic Counselor, Study Coordinator, Department of Neurology at Columbia University in the City of New YorkKristin Engelstad, MS, CGC
Genetic Counselor, Study Coordinator, Department of Neurology at Columbia University in the City of New York
Genetic Counselor, Study Coordinator, Department of Neurology at Columbia University in the City of New York
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Professor of Clinical Genomics of Mitochondrial Diseases, Director of the Genome Center, at Maastricht UniversityHubert Smeets, PhD
Professor of Clinical Genomics of Mitochondrial Diseases, Director of the Genome Center, at Maastricht University
Professor of Clinical Genomics of Mitochondrial Diseases, Director of the Genome Center, at Maastricht University
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Research Associate, Centre of Medical Law and Ethics, The Dickson Poon School of Law at King's College LondonJohn Appleby, PhD
Research Associate, Centre of Medical Law and Ethics, The Dickson Poon School of Law at King's College London
Research Associate, Centre of Medical Law and Ethics, The Dickson Poon School of Law at King's College London
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Research Associate at Wellcome Trust Centre for Mitochondrial Research, Newcastle UniversityLyndsey Craven, PhD
Research Associate at Wellcome Trust Centre for Mitochondrial Research, Newcastle University
Research Associate at Wellcome Trust Centre for Mitochondrial Research, Newcastle University
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Professor of Mitochondrial Genetics, Nuffield Department of Obstetrics and GynecologyJoanna Poulton, DM, FRCP
Professor of Mitochondrial Genetics, Nuffield Department of Obstetrics and Gynecology
Professor of Mitochondrial Genetics, Nuffield Department of Obstetrics and Gynecology
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Research Assistant Professor, Dr. J.T. Macdonald Foundation Department of Human Genetics, Institute for Bioethics and Health Policy, John P. Hussman Institute for Human Genomics, and Interdisciplinary Stem Cell Institute at University of Miami Miller School of MedicineRosario Isasi, JD, MPH
Research Assistant Professor, Dr. J.T. Macdonald Foundation Department of Human Genetics, Institute for Bioethics and Health Policy, John P. Hussman Institute for Human Genomics, and Interdisciplinary Stem Cell Institute at University of Miami Miller School of Medicine
Research Assistant Professor, Dr. J.T. Macdonald Foundation Department of Human Genetics, Institute for Bioethics and Health Policy, John P. Hussman Institute for Human Genomics, and Interdisciplinary Stem Cell Institute at University of Miami Miller School of Medicine
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Laboratory of Pediatric Infectious Diseases, Radboud Institute for Molecular Life Sciences at Radboud University Medical CenterGer P.A. Bongaerts, PhD
Laboratory of Pediatric Infectious Diseases, Radboud Institute for Molecular Life Sciences at Radboud University Medical Center
Laboratory of Pediatric Infectious Diseases, Radboud Institute for Molecular Life Sciences at Radboud University Medical Center
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Lead Moderators
-
Resident in Obstetrics and Gynecology at Obstetrics and GynecologyPietro Bortoletto, MD
Resident in Obstetrics and Gynecology at Obstetrics and Gynecology
Resident in Obstetrics and Gynecology at Obstetrics and Gynecology
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Moderators
-
OB/GYN Resident at Brigham and Women's Hospital and Massachusetts General HospitalEduardo Hariton, MD, MBA
OB/GYN Resident at Brigham and Women's Hospital and Massachusetts General Hospital
OB/GYN Resident at Brigham and Women's Hospital and Massachusetts General Hospital
