Experts
  • Carlos T. Moraes, PhD is a Professor in the Department of Neurology with a secondary appointment in Cell Biology at the University of Miami, Leonard M. Miller School of Medicine. Following a Ph.D. and a short postdoctoral period at Columbia University he relocated to Miami in 1993. At the University of Miami he continued his work on mitochondrial diseases, developing genetic and pharmacological approaches to treat mitochondrial disorders and expanded to study nuclear mitochondrial interactions and the role of mitochondria in aging and neurodegenerative diseases. Dr. Moraes has and continues to serve on several NIH, FDA, The United Mitochondrial Disease Foundation and The Muscular Dystrophy Association grant review and discussion panels. He has published 134 original articles and 64 peer-reviewed reviews and his research has been continuously funded by the NIH since 1994.
    • Medical Biochemical Genetics
    • Neonatal-Perinatal Medicine
    • Pediatrics
    • Medical Genetics
    • Languages: Finnish (native), English (fluent), Spanish (fluent), Swedish (relatively fluent), French (basics)
    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...
    Annakaisa Niemi, MD, PhD, is a Clinical Instructor in the Department of Pediatrics, Divisions of Neonatology (primary), General Pediatrics and Medical Genetics at Stanford University. She is also a Co-Director of Pediatric Integrative Medicine (PIM) Residency program, a member of the Pediatric Integrative Medicine (IM) Core Group at Stanford Children's, and an Editor of the Metabolic Genetic chapters at PEMSoft/EBSCO. Dr. Niemi is the past Recipient of the Genzyme/ACMGF Clinical Genetics Fellowship in Biochemical Genetics Award (award period 7/2011-6/2012) and of the United Mitochondrial Diseases Foundation (UMDF) Clinical Fellowship Award (award period 8/2013-8/2014). Dr. Niemi's PhD thesis was on the role of mitochondrial DNA (mtDNA) in longevity and elite athletic performance. She has a special interest in Medical Biochemical Genetics, Medical Genetics, Pediatrics, Neonatology and Newborn Care, Integrative Medicine, Organ Transplants for Inborn Errors of Metabolism, and Palliative Care. Additionally, Dr. Niemi is active in blogging & writing (Facebook: Dr. AnnaKaisa, Twitter: @DrAnnakaisa). She has a special passion for creativity in science, medical education, making science & medicine understandable to everyone, children's & human rights, sustainability, and nature & outdoors.
    • Member, Senate of the Dutch Parliament, Associate Professor of Medical Ethics at University Medical Center Utrecht
    Dr Annelien L. Bredenoord is an associate professor of Medical Ethics at the University Medical Center Utrecht, The Netherlands as well as member of the Senate of the Dutch Parliament, on behalf of the social liberal political party Democrats 66 (D66). Her research focuses on the ethical issues in emerging biomedical technology, particularly genetics/genomics, regenerative medicine, stem cell research, biobanking, surgical innovation, Big Data and reproductive technology. Her PhD thesis concerned an ethical analysis of the reproductive options for carriers of mitochondrial mutations, among which mitochondrial replacement techniques and pre-implantation genetic diagnosis. She co-authored over 50 articles and supervises several PhD students. She obtains funding from among others KWF (Dutch Cancer Society) and The Netherlands Organization for Health Research and Development ZonMw (among which a personal VENI grant). She is member of several international committees among which the Ethics Committee of the International Society for Stem Cell Research (ISSCR) and the Ethics Working Party of the International Stem Cell Forum. In The Netherlands, she is member of the Young Academy of the Royal Netherlands Academy of Arts and Sciences (KNAW), the National Indication Committee Pre-implantation Genetic Diagnosis, UMC Utrecht's Advisory Committee on Reproductive Medicine and UMC Utrecht’s Research Ethics Committee (IRB). She recently served on panels of the IOM Committee on Ethical and Social Policy Considerations of Novel Techniques for Prevention of Maternal Transmission of Mitochondrial DNA Diseases and at the International Summit on Genome Editing, both in Washington DC.
    • Obstetrics and Gynecology
    • Director, OHSU Oocyte Donation Program, Associate Professor at Oregon Health and Science University
    Dr. Paula Amato is Associate Professor of Obstetrics & Gynecology at Oregon Health & Science University and Associate Scientist in the OHSU Center for Embryonic Cell & Gene Therapy. She is Director of the OHSU Oocyte Donation Program. Her research focuses on germline gene therapy. Dr. Amato is also a member of the Board of Directors of the American Society for Reproductive Medicine.
    • Heritable Genetic Modification
    • Embryo Research
    • Research in Pregnant Women
    • Women’s Health
    • Assisted Reproduction
    • Bioethics
    Professor and Canada Research Chair in Bioethics and Philosophy, Dalhousie University, CANADA
    Professor and Canada Research Chair in Bioethics and Philosophy, Dalhousie University, CANADA
    • Professor and Canada Research Chair at Dalhousie Universtiy
    Françoise Baylis, Professor and Canada Research Chair in Bioethics and Philosophy at Dalhousie University, is developing new strategies to make just and lasting policy contributions at home and abroad. She is testing the impact of these strategies on real-world public policy challenges with research involving humans, women’s health, genetic and reproductive technologies, public health and access to health care. Baylis believes bioethicists need to take on greater advocacy roles and use their talents and expertise in pursuit of social justice. They need to exercise their moral imagination and find creative ways to make the powerful care about matters of fairness. Baylis is also developing effective means to engage people whose interests and voices have traditionally been marginalized in policy discussions. She aims to help others create welcoming places for meaningful ethics discourse beyond select interest groups. Baylis is doing this by exploring the role of bioethicists in creating spaces for deliberation and discussion. Baylis is an elected fellow of the Royal Society of Canada and the Canadian Academy of Health Sciences. She has particular expertise on the ethics of heritable genetic modifications. She was an external reviewer for the Institute of Medicine report “Mitochondrial Replacement Techniques”. She was also a member of the 12-person Organizing Committee for the December 2015 International Summit on Human Gene Editing.
    • Genetic Counselor, Study Coordinator, Department of Neurology at Columbia University in the City of New York
    Ms. Kris Engelstad is a Genetic Counselor and Study Coordinator for the department of neurology at Columbia University. For the past 15 years she has been involved with clinical research in mitochondrial disorders. Studies have included: 1) Natural History Studies of patients with various mitochondrial disorders, 2) Clinical trials (MELAS, MNGIE, and TK2 Deficiency and end-stage mitochondrial disorders), 3) Evaluation of aerobic exercise testing in patients with MELAS, 4) A patient registry and biobank (NAMDC), and 5) A survey to assess the support for Mitochondrial Replacement Therapy among women carriers in the mitochondrial community. She provides genetic counseling to research patients as well as to a Pediatric Neuromuscular Clinic. Columbia University is a long-standing center of excellence in mitochondrial disorders; consequently they receive a large volume of referrals and inquiries about these diseases. In the field of mitochondrial disorders, Kris has interacted with hundreds of patients, their families, and many of the medical personnel responsible for their care. Often, this involves the education of others about the genetic basis of mitochondrial disorders.
    • Stem cell therapy
    • MtDNA disease transmission
    • Clinical Genomics
    • Mitcohondrial diseases
    • Systems Biology
    • Professor of Clinical Genomics of Mitochondrial Diseases, Director of the Genome Center, at Maastricht University
    Hubert Smeets, PhD, is a professor in Clinical Genomics with a focus on Mitochondrial Diseases at Maastricht University and Director of the Genome Center in Maastricht, the Netherlands and PI of the research school GROW. He is an internationally distinguished clinical molecular geneticist. His research concentrates on the genomics and transmission of mitochondrial disorders. These devastating disorders are clinically and genetically highly heterogeneous with probably more than 1500 genes involved, either in the mitochondrial or the nuclear DNA. His research involves (1) identifying the gene and genetic defect by whole exome and whole genome sequencing; (2) studying the pathophysiology in cell lines, iPS cells and zebrafish models; (3) characterizing new stem-cell based treatment options; (4) preventing the transmission of mtDNA mutation by preimplantation genetic diagnosis; (5) studying the mtDNA genetic bottleneck in human embryos and zebrafish. He has published more than 170 original research articles, reviews and book chapters (Hirsch Index 40) and he acquired more than 7M$ on competitive funding . He had been a consultant on the technical and ethical implications of mitochondrial donation technology for the UK Human Fertilisation and Embryology Authority (HFEA), the UK Nuffield Council of Bioethic and the European Neuromuscular Centre (ENMC). The last couple of years he gave several invited lectures on preventing the transmission of mtDNA mutations at meetings of Reproductive Societies in Europe and Asia and he was consulted on this topic by the Dutch press and television and patient organizations.
    • Research Associate, Centre of Medical Law and Ethics, The Dickson Poon School of Law at King's College London
    Dr John B Appleby is a Research Associate at the Centre of Medical Law and Ethics at The Dickson Poon School of Law at King’s College London. As a moral philosopher with interests in law, policy and science, Dr Appleby’s research is generally centred around bioethics (broadly construed). For the past several years his Wellcome Trust funded research (www.reproductivedonation.com) has focused on the ethics of reproduction. In particular, Dr Appleby has been conducting research on the ethics and law of mitochondrial replacement techniques. His work on mitochondrial replacement has been published in Bioethics (with Anthony Wrigley and Stephen Wilkinson) (http://onlinelibrary.wiley.com/doi/10.1111/bioe.12187/abstract) and in Medicine, Health Care and Philosophy (http://link.springer.com/article/10.1007/s11019-015-9656-3). In 2012 John published (with Martin Richards and Guido Pennings) a co-edited volume titled Reproductive Donation: Practice, Policy and Bioethics (Cambridge University Press). He has a new book (available March 2016) that he has co-edited with Professor Rosamund Scott, Professor Stephen Wilkinson, Professor Susan Golombok, and Professor Martin Richards, which is titled ‘Regulating Reproductive Donation’ (Cambridge University Press). In addition, he is currently co-editing (with Rosamund Scott and Stephen Wilkinson) a special issue of Bioethics on ‘The Ethics of Mitochondrial Donation’. Dr Appleby completed his PhD at Corpus Christi College, University of Cambridge.
    • Research Associate at Wellcome Trust Centre for Mitochondrial Research, Newcastle University
    Dr Lyndsey Craven is a scientist within the Wellcome Trust Centre for Mitochondrial Research at Newcastle University in the UK. Since 2005, in collaboration with the Newcastle Fertility Centre, her research focus has been the development of an IVF-based technique, termed mitochondrial replacement, which aims to prevent transmission of mitochondrial DNA disease from mother to child. This research included optimisation of the embryo manipulations required to perform mitochondrial replacement between abnormally fertilised human embryos. The results of the study, which were published in the scientific journal Nature, demonstrated that mitochondrial replacement has the potential to prevent transmission of mitochondrial DNA disease in humans. Her current research involves using normally fertilised human embryos to assess the safety of mitochondrial replacement, which is crucial if the technique is to be offered as a clinical treatment to women with mitochondrial DNA disease. In March 2015, legislation was passed in the UK making mitochondrial replacement legal for the first time. During an extensive evaluation of the technique that took place over many years, Dr Craven has attended national and international meetings with scientists, politicians and members of the public to answer any questions they may have about mitochondrial replacement.
    • Obstetrics and Gynecology
    Professor of Mitochondrial Genetics, Nuffield Department of Obstetrics and Gynecology
    Professor of Mitochondrial Genetics, Nuffield Department of Obstetrics and Gynecology
    Jo Poulton is Professor of Mitochondrial Genetics at the University of Oxford, in the Nuffield Department of Obstetrics and Gynaecology. She is the Oxford clinical lead of the NHS Specialised services Rare Mitochondrial Disease Service for Adults and Children and heads up the Mitochondrial Genetics research group. She was the first to describe pathological mitochondrial DNA (mtDNA) duplications. As a Wellcome Senior Clinical Fellow she pioneered the application of two dimensional DNA electrophoresis to this field. During this period JP became interested in the mitochondrial bottleneck, a characteristic of mtDNA transmission whereby there can be dramatic switching of mitochondrial genotype in a single generation. She carried out the first study of the mitochondrial bottleneck in oocytes from healthy women and was among the first to obtain estimates of bottleneck size in oocytes from patients with mtDNA disease. This work suggests that a major component of the bottleneck occurs during oogenesis. This is an essential pre-condition for emerging technologies for reducing transmission of mtDNA diseases, pre-implantation genetic diagnosis (PGD) and mitochondrial replacement therapy. She collaborated with Joerg Burgstaller (Vienna) and Iain Johnston (Birmingham) in a recent study suggesting that "haplotype matching" will reduce the risk of unexpected complications in mitochondrial replacement therapy. As co-chair of European Neuromuscular Centre (ENMC) workshops in 2000 and 2010 JP developed the current European consensus view on prenatal genetic management of mtDNA disease. With Dagan Wells and team at the Institute of Reproductive Sciences, she counsels for mitochondrial PGD as part of the Oxford service. JP has had a longstanding interest in diseases of mtDNA maintenance, and in the contribution of mtDNA to multifactorial disease. While a Royal Society University Research Fellow she developed one of the first mouse models of transmission of detrimental mtDNA mutants. Current research, focussing on mitophagy and developing drug modulators as treatments for mitochondrial disease, has been funded by MRC, the Lily Foundation and Newlife. She has over a hundred peer reviewed publications.
    • 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
    Rosario Isasi, J.D., M.P.H., is a Research Assistant Professor at the Miller School of Medicine with appointments in the Dr. J. T. Macdonald Foundation Department of Human Genetics, the Institute for Bioethics and Health Policy, the John P. Hussman Institute for Human Genomics and the Interdisciplinary Stem Cell Institute. Professor Isasi has built an international reputation as a scholar with particular expertise in the area of comparative law and ethics regarding genomics and regenerative medicine. She holds many leadership roles in major international initiatives. She is the Ethics Advisor of the European Commission’s European Human Pluripotent Stem Cell Registry (hPSCREG), a member of the American Society for Human Genetics (ASHG) Task Force on “Gene Editing” and the Academic Secretary of the International Stem Cell Forum Ethics Working Party. Professor Isasi is also a member of the Steering Committee and leads the Governance Working Group of the International Stem Cell Banking Initiative (ISCBI). Closely related to her academic work is her role as an ethics and policy adviser to government, professional and international bodies, such as the United Nations, where she played an active role in the adoption of the UN Declaration on Human Cloning. Most recently, she contributed to the development of harmonized ELSI and educational tools for Canadian Blood Services’ National Public Cord Blood Bank, the Centre for the Commercialization of Regenerative Medicine (CCRM) and to the Bioethics Education Project of the Royal College of Physicians and Surgeons of Canada. Mrs. Isasi was the first post-doctoral fellow at the Canadian Program on Genomics and Global Health at Joint Centre for Bioethics, University of Toronto. She received further post-doctoral training at the Centre de Recherche en Droit Public, Université De Montréal. She holds her law degree from the Pontifical Catholic University of Peru, where she practiced corporate and health law. She received her Masters of Public Health from Boston University.
    • Laboratory of Pediatric Infectious Diseases, Radboud Institute for Molecular Life Sciences at Radboud University Medical Center
    Ger P.A. Bongaerts PhD is at the Laboratory of Pediatric Infectious Diseases of the Department Pediatrics, and at the Radboud Institute for Molecular Life Sciences of the Radboud University Medical Centre in Nijmegen, The Netherlands. As biochemist/(medical) microbiologist Ger is especially interested in the system energetics as it concerns the interaction between man and micro-organisms. The main item is the (interactive) energy flow in human beings. This especially implies the interactions between both fermentative and oxidative energy generation and the consecutive effects. He has started the metabolic studies with the aerobic very fastidious Bacillus fastidiosus, a soil bacterium that was capable to grow with only uric acid, allantoin and allantoic acid as C-, N- and energy-source. The next step in this field was his focusing on the very interesting intestinal microbiome in Short Small Bowel Syndrome patients that lack >50% of the small bowel, and that consequently suffered from the fermentative lactic acid production in their intestines by lactobacilli (in feces from SSB-adults up to 99% lactobacilli). Especially the metabolic results were extrapolated to both the phenomenon of probiotics and to the problem of cachexia in cancer patients. The last item did him also focus on mitochondria, both because of the metabolic function of this organelle in the human body, and the fact that mitochondria are very probably defective bacteria that will to some extend behave like bacteria. From this point of view he did not exclude the existence of mitoviruses and mitobacteria that may damage human or animal mitochondria and thus may contribute to permanent fatigue. Very interesting became the British study on three-parents-babies, that might create juridical problems. As early as 2006 he proposed that this kind of problems might be prevented by replacing the maternal mitochondria by “paternal” mitochondria from spermatozoa.