Prof. Dr. Annemieke Aartsma-Rus is a professor of Translational Genetics at the Department of Human Genetics of the Leiden University Medical Center (the Netherlands). In 2020 she co-founded the Dutch Center for RNA Therapeutics (DCRT), a non-for-profit academic collaboration aiming to develop clinical treatment with exon skipping therapies for eligible patients with unique mutations. In 2022 she became a board member of the N-of-1 collaborative (N1C), a global umbrella organization aiming to facilitate development of antisense oligonucleotide therapies for patients with very rare, eligible mutations.
She has published over 220 peer-reviewed papers, 11 book chapters and 15 patents. She has given many invited lectures at scientific conferences and patient organization meetings. In 2011 she received the Duchenne Award from the Dutch Duchenne Parent Project in recognition of her dedication to the Duchenne field. In 2020 she received the Black Pearl Science Award from Eurordis. In 2021 she received the Ammodo Science Award for her contribution to developing exon skipping therapies for Duchenne, the outstanding achievement award from the Dutch Society of Gene and Cell Therapy the Rosalind Franklin in Science award for her work for the journal Nucleic Acid Therapeutics. Since 2015 she is the most influential scientist in Duchenne muscular dystrophy in the past 10 years (https://expertscape.com/ex/muscular+dystrophy%2C+duchenne).
She is chair of the TREAT-NMD Advisory Committee for Therapeutics (TACT), Chair of the Dutch Center for RNA Therapeutics, vice-chair of COST Action CA17103 (Delivery of antisense RNA therapies), was President of the Oligonucleotide Therapeutics Society (2019-2021), and Chair of the TREAT-NMD executive committee (2013-2016 and 2019-2020). She is a member of the Therapies Scientific Committee of the International Rare Disease Research Consortium (IRDiRC). She is co-editor in chief of Nucleic Acid Therapeutics, and served on the editorial board of Journal of Neuromuscular Diseases, Molecular Therapy and Therapeutic Advances in Rare Disease.
Dr. Laura Adang MD PhD MSTR is an Assistant Professor of Child Neurology at the Children’s Hospital of Philadelphia specializing in the care of children with leukodystrophies. Dr. Adang is a magna cum laude graduate of the University of Georgia’s Foundation Fellowship scholarship program and a graduate of the Medical Scientist Training Program at the University of Virginia, where she received both her M.D. and Ph.D. Her graduate work characterized the immune evasion mechanisms of herpesvirus infections. She completed her pediatrics and child neurology residencies, fellowship training in multiple sclerosis, and a masters of translational research at the Children’s Hospital of Philadelphia and the University of Pennsylvania. She is also course director of the Predoctoral Preparatory Program at the Institute for Translational Medicine and Therapeutics (ITMAT) program at the Perelman School of Medicine of the University of Pennsylvania.
As part of the Children’s Hospital of Philadelphia’s Leukodystrophy Center of Excellence, her focus is the care of children with white matter disorders, including Aicardi Goutières Syndrome (AGS). AGS is a heritable inflammatory disorder which mimics viral infection. Her work is focused on defining early disease manifestations to predict clinical trajectories, develop outcomes assessments to measure clinical changes that are meaningful to families, and to evaluate new therapeutic options. Her work is funded through both the NIH and family foundation grants.
Center of Brain research, Medical University of Vienna
Johannes Berger is Professor for Pathobiology of the Nervous System at the Center for Brain Research, Medical University of Vienna. He was formerly associate Professor for Molecular Biology at the Institute of Neurology, University of Vienna. He performed his PhD at the Sandoz Research Institute (now Novartis), Department of Antiretroviral Therapy for training in molecular biology and biochemistry. His current research activities concentrate on the role of peroxiosmes in the nervous system for health and disease. A main focus concerns the molecular mechanisms underlying X-linked Adrenoleukodystrophy and the development of novel therapeutic strategies to compensate peroxisomal dysfunction in the nervous system. He served as a coordinator in the EU projects “X-linked Adrenoleukodystrophy: pathogenesis, animal models and therapy” and “Integrated project to decipher the biological function of peroixosmes in health and disease”. He is also coordinator of the PhD program neuroscience at the Medical University Vienna.
Dr. Sarah H. Elsea is a Professor of Molecular and Human Genetics and Director of Clinical Genomics for the BCM Human Genome Research Center at Baylor College of Medicine.
Dr. Elsea received a B.S. in chemistry with a minor in biology from Missouri State University and a Ph.D. in biochemistry from Vanderbilt University. She completed postdoctoral fellowships in human molecular and biochemical genetics at the Baylor College of Medicine and is a clinical biochemical geneticist certified by the American Board of Medical Genetics & Genomics. She started her research lab as an Assistant Professor at Michigan State University where she also directed a clinical diagnostic laboratory, and then continued her research at the Medical College of Virginia at Virginia Commonwealth University. She then returned to Baylor College of Medicine in 2013, where she co-developed clinical untargeted metabolomics at the BCM Medical Genetics Laboratories, now Baylor Genetics. As the Director of Clinical Genomics for the BCM-HGSC Clinical Laboratory, she oversees clinical reporting for All of Us and other large-scale genome sequencing projects.
Dr. Elsea’s research program is focused on discovery, diagnosis, pathomechanisms, and treatment of rare disease across the lifespan, particularly neurodevelopmental and neurometabolic disorders, from basic science to patient & family outcomes. Her clinical work at BCM is focused on development of clinical metabolomics, biomarker discovery, and approaches to treatment, as well as the utilization and integration of multi-omics technologies to develop and define model systems for investigation, treatment, and monitoring of rare and complex disease. Dr. Elsea is passionate about her work and serves on the boards of the American Board of Medical Genetics & Genomics and the American College of Medical Genetics & Genomics Foundation, and she serves as Chair of the PRISMS Professional Advisory Board for Smith- Magenis syndrome. She is a member of several professional societies and has authored >150 scientific and lay articles.
Dr García-Cazorla is a Paediatric Neurologist at the Sant Joan de Déu Barcelona Children’s Hospital, in Barcelona. She is an expert in rare neurometabolic and neurogenetic disorders.
Dr Cazorla obtained her degree in Medicine from the University of Barcelona. She then completed her clinical and scientific training in Inborn Errors of Metabolism and Neurometabolic Disorders at the Hospital Necker, in Paris, and at the University of Columbia in New York. She is Professor at the University of Barcelona since 2012 and the director of the International Master of Neurometabolism and Cell Biology for Clinicians.
She is currently the Director of the Neurometabolic Disorders Unit and the Director of Research and the “Brain Project” at Sant Joan de Déu Hospital. She is a member of the SSIEM Council, the coordinator of the subgroup of neurotransmitters and other small molecules affecting the brain at the MetabERN, and has recently joined the North American Metabolic Academy as part of the teaching faculty. Her research interests include neurotransmission and the “metabolic environment of the synapse” in inborn metabolic diseases as well as the development of new therapies for these rare diseases. She has published more than 220 peer-reviewed articles in the field of paediatric neurology and neurometabolism.
Dr. Ozlem Goker-Alpan is the founder and Chief of Medical at LDRTC, a nonprofit organization that focuses on Lysosomal Disorders and other rare diseases. She received her medical degree in 1990 from Marmara University School of Medicine in Istanbul, Turkey with the highest honors as first in her class. She trained in Pediatrics and then served as a Pediatric Chief Resident at SUNY in Stony Brook, New York. She completed her first fellowship in Clinical and Biochemical Genetics at the National Institutes of Health, Greater Washington Medical Genetics Program in 1999, and worked as an adjunct scientist at the National Child Health Institute. Her second fellowship focused on Lysosomal Storage Disorders and Gaucher disease at the Clinical Neuroscience Branch, NIMH. She coordinated the NIH Gaucher Clinic at the Medical Genetics Branch of the National Human Genome Research.
As an established clinician and translational scientist in rare genetic and lysosomal storage disorders, Dr. Goker-Alpan pursuit is to provide individualized care and treatment for patients with LSDs and rare diseases. Under her supervision, LDRTC has completed multiple scientific projects exploring immune pathways and lysosomal functions to develop new diagnostic and monitoring tools in LSDs and GBA-related parkinsonism. She serves on the scientific advisory boards of multiple pharmaceutical companies and patient advocacy organizations. Her continuing effort is to educate and train the new generation of health care providers in Lysosomal Storage Disorders.
Johannes Häberle is a pediatrician, neonatologist and intensive care specialist, and a senior metabolic consultant at the . He is an Adjunct Professor for Pediatrics at the University of Zurich, and Head of the Metabolic Laboratory at the University Children’s Hospital. Dr. Häberle is chairperson of the European working group for Guidelines for the Diagnosis and Treatment of Urea Cycle Disorders, and a member of the Executive and Scientific Boards of the European Registry and Network for Intoxication Type Metabolic Diseases (EIMD). He is Chair of the Society for the Study of Inborn Errors of Metabolism (SSIEM) Education And Training Advisory Committee (ETAC) and Council member of the SSIEM. His research focusses on inherited defects of ureagenesis and on the development of novel treatment options for urea cycle disorders. Current projects are supported by the Swiss National Science Foundation, the University Research Priority Program (URPP) ITINERARE of the University Zurich, and private foundations.
Arcangela Iuso is a senior scientist at the Helmholtz Zentrum München and the scientific coordinator of the international biobank for Neurodegeneration with Brain Iron Accumulation (NBIA) at the Technical University of Munich, Germany. She conducts basic and pre-clinical research on mitochondrial disorders, with a focus on NBIA and metabolically related disorders, such as those resulting from PPCS and SLC25A42 deficiency. She is interested in understanding the function of poorly characterized proteins to explore rational therapeutic strategies. To this aim, she uses a range of model systems, including primary patient samples, stem cell models, and genetically modified fruit flies and mice.
Dr. Elad Jacoby is a physician-scientist focusing on cellular therapies for pediatric malignancies.
He graduated from the Tel Aviv University, and completed the pediatric residency at the Sheba Medical Center, Israel, and Pediatric Hematology and Oncology fellowship at the Johns Hopkins Hospital and the National Cancer Institute, MD, USA. He completed a cell therapy clinical and research fellowship at the National Cancer Center.
Dr. Jacoby heads the cell therapy center in Pediatrics at the Sheba Medical Center, and is a Senior Lecturer in Pediatrics at the Faculty of Medicine, Tel Aviv University. He is a board certified pediatric hematologist and oncologist, and an expert in childhood leukemia and in CAR T cells.
His research interests include CAR T-cell clinical applications, leading international clinical trials in the field; Biology of CAR T-cells, leading translational lab-based research; and mitochondrial augmentation, leading the preclinical development and the first-in-human clinical trial of MAT in patients
Basic education was completed in Mumbai, India. MD Paediatric in 1989 from Bombay University. Developed interest in Paediatric Genetic and Metabolic disorders while working at Paediatric Research Lab (PRL) of IEM Hospital, Mumbai.
After completion of Paediatric education, attended various training programmes nationally and in Europe and gained knowledge and experience in Clinical and Laboratory aspects of Inborn Errors of Metabolism. Colleagues from Vienna, Graz, Innsbruck, Heidelberg, Nijmegen and Madrid helped him tremendously in learning techniques and science of IEM.
While continuing these educational activities, established first Private Clinical and Lab dedicated to IEM in 1998 in Navi Mumbai (New Bombay). Currently a team of 15 people is managing our clinic and Lab, known as NIRMAN. On an average we see and manage 2,000 to 2,500 new Paediatric patients, suspected with IEM every year.
Over the last 24 years we has published at least 60 papers and presented in various national and international conferences.
Jalan is also visiting various centres in India to conduct Metabolic / Neurometabolic clinics – viz Hyderabad, Chennai, Coimbatore, Bangalore, Nagpur etc.
Jalan and his team have published a book on Inborn Errors of Metabolism for Paediatricians of India – “IEM in Critically ill Newborns”.
Anil Jalan is also a visiting Professor of Paediatrics at SRMC Medical College, Chennai and Adjunct Professor at Manipal University, Manipal.
He is also an active member of Task force on Small Molecule diseases of ICMR (Indian Council of Medical research).
Viktor Kožich is a Professor of Medical Genetics working in the Department of Pediatrics and Inherited Metabolic Disorders at Charles University-First Faculty of Medicine, and in the General University Hospital in Prague, Czech Republic. He obtained his M.D. in 1985; between 1991 and 1992, he worked in the laboratory of Prof.Jan P. Kraus at the University of Colorado School of Medicine in Denver, USA. In 1995 he obtained his Ph.D. equivalent and board certificate in Medical Genetics. In 2012 he became a full Professor of Medical Genetics.
His research focuses on inherited metabolic disorders of sulfur amino acids and related B vitamins, and their genetic, biochemical, clinical, and epidemiological aspects. He is also interested in the role of sulfur amino acids, hydrogen sulfide and B vitamins in metabolic syndrome. He published over 150 publications in peer-reviewed journals and 15 chapters in books.
He has been a member of councils of several international learned societies and consortia (SSIEM, ERNDIM, E-HOD, U-IMD, and ESHG). Since 2009 he has been a Chairman of the Czech national Coordination Center on Neonatal Screening and he also represents the General University Hospital in the MetabERN network.
Dr Lachmann trained in the UK in General Internal Medicine and Metabolic Medicine. His interest in genetic disease led to a PhD and postdoctoral work on developing viral vectors for gene delivery to the brain. He moved to his current post at UCLH in 2005. He leads a multidisciplinary team looking after adults with inherited metabolic diseases. He is Chair of the Scientific Committee of the Recordati Rare Diseases Foundation and National Specialty Advisor for Metabolic Disorders to the English National Health Service.
University of Luxembourg, Centre for Systems Biomedicine
Carole Linster is an Associate Professor at the University of Luxembourg where she is heading the Enzymology & Metabolism Group at the Luxembourg Centre for Systems Biomedicine. After a PhD in biomedical sciences at the de Duve Institute, UCLouvain (Brussels), she moved to UCLA (Los Angeles) for a postdoc, followed by a second postdoc back at the de Duve Institute. Her main research interests include metabolomics-assisted enzyme function discovery, with a focus on metabolite damage and repair reactions, and elucidating molecular mechanisms underlying inborn errors of metabolism. Carole Linster and co-workers discovered several new metabolite repair enzymes involved in the breakdown of metabolic side products that are constantly formed in our cells through enzymatic side activities or unwanted chemical reactions. Her group recently co-led the identification of a novel rare neurodegenerative childhood disorder that is caused by the deficiency of one of those metabolite repair enzymes (NAXD), which is needed to convert damaged, inactive forms of NADH and NADPH back to the active cofactors. The Linster group also deploys increasing efforts towards disease modeling, in yeast and human cells as well as zebrafish, and drug repurposing for rare diseases.
Fanny Mochel is a professor of genetics at Sorbonne University. She received her MD in Genetics in 2005 at the University Paris Descartes, her PhD in Neuroscience in 2010 at Sorbonne University and is board certified in inborn errors of metabolism. Professor Mochel leads the French reference center on Neurometabolic diseases and Leukodystrophy in adults and runs a Neurometabolic research group at Paris Brain Institute of La Pitié-Salpêtrière University Hospital in Paris. She is chair of the adult section of the Society for the Study of Inborn Errors of Metabolism (SSIEM), and co-chair of the French society for inborn of errors of metabolism in adults. Her research is focused on the characterization and treatment of neurometabolic disorders and metabolic leukodystrophies in adults. Her major areas of expertise are the identification of neurometabolic biomarkers in vitro (metabolomics) and in vivo (metabolic imaging) as well as therapeutic approaches targeting the Krebs cycle.
Andrew Morris is a consultant and senior lecturer in Paediatric Metabolic Medicine. He works on the Willink Metabolic Unit, within the Manchester University Hospitals NHS Trust. This unit provides the metabolic service for the North of England and Andrew’s work includes the outreach service to Liverpool.
Dr Morris trained in metabolic diseases with Prof Leonard and Prof Clayton at Great Ormond Street Hospital in London and did his PhD on mitochondrial disorders with Prof Turnbull in Newcastle-upon-Tyne. He has been a consultant since 1996, first in Newcastle and then at Great Ormond Street Hospital, before moving to Manchester in 2003. He has wide experience of inborn errors of metabolism. His research has mainly concerned disorders of fatty acid oxidation and the mitochondrial respiratory chain, newborn screening and homocystinurias. He is on the Executive Committee of E-HOD.
Andrew has a particular interest in teaching. He was secretary of the SSIEM Education and Training Committee from 2011-16 and Chairman from 2016-19 and is now a Senior Advisor. He has organised and taught on many metabolic courses over the last 30 years, including all the SSIEM Academies.
Jean-Marc Nuoffer is professor of Inborn Errors of Metabolism at the University of Bern Switzerland. He obtained his degree in Medicine form the University of Bern. He started his Paediatric Endocrinology and Metabolic training in Bern and completed his clinical and scientific training in Inborn Errors of Metabolism at the Hospital Necker in Paris. Back in Switzerland, he followed a training in Laboratory Medicine at the University Institute of Clinical Chemistry, Bern.
He currently leads the Swiss Reference Centre for Inborn Errors, Site Bern and the diagnostic metabolic unit at the University Institute of Clinical Chemistry. His clinical research is focused on the characterisation and the evaluation of treatment in IEM. His major areas of expertise in laboratory research are the biochemical characterisation IEM. Over the years the main focus switched from Urea Cycle Defects to mitochondrial disorders. He conducts basic research on mitochondrial disorders combining routine diagnostic methods, bioenergetics analysis and Metabolomics. To this aim he uses primary patient samples and his laboratory developed different methods and protocols and a NMR based bioreactor allowing the determination of intra and extracellular metabolites.
Gideon Rechavi received an MD from Tel‑Aviv University in 1981 and a PhD from the Weizmann Institute of Science. He is board certified in Hematology, Pediatrics, and Pediatric Hematology-Oncology. He is Professor of Hematology and holds the Djerassi Chair in Oncology, Tel Aviv University. He served as head of the Division of Hematology, Sackler School of Medicine and as head of the Tel Aviv University Cancer Biology Research Center.
In 1992 he was appointed head of the Pediatric Hematology‑ Oncology and Bone Marrow Transplantation Department at the Sheba Medical Center and in 1999 he established the Sheba Cancer Genomics Unit, a leading Israeli center for medical genomics. In 2003 he established the Sheba Cancer Research Center, which he heads and from 2016 he heads the Wohl Institute for Translational Medicine.
His main research interests are RNA epigenetics, transposable genetic elements and cancer genomics with special emphasis on pediatric cancer. In recent years, his laboratory became a leading facility for genomic analysis where genes involved in a variety of monogenic diseases are identified. His group is now involved in the study of “orphan” genetic diseases aiming at the development of individualized genetic therapy.
He has published 500 articles in the most prestigious journals including Nature, Cell, Science, New England Journal of Medicine, Lancet and many more.
He has been awarded numerous prizes and research grants including the EMET prize for Genetics and an ERC Advanced Grant. He was selected for the Ernest and Bonnie Beutler Research Program of Excellence in Genomic Medicine.
Rechavi is a member of the European Academy of Cancer Sciences and a member of the Israeli Academy of Sciences. He was awarded the Israel Prize in Medical Research in 2020.
Dr. Rossignol went to medical school at the Université de Sherbrooke (2009-2013), and then completed a residency in Medical Genetics and Genomics at the Université de Montréal (2013-2018). He did his fellowship in both Medical Biochemical Genetics (2018-2019) and Clinical Biochemical Genetics (2019-2020) at the National Human Genome Research Institute (NHGRI) training program. Since 2020, he is a staff clinician for the Undiagnosed Diseases Program as well as the principal investigator for the GNE myopathy studies in the Human Biochemical Genetics section at NHGRI. He is also a co-principal investigator for the ongoing multicenter clinical trial of ManNAc in GNE myopathy (NN109 MAGiNE study). Dr. Rossignol also teaches the Inborn Errors of Metabolism course for the Foundation for Advanced Education in the Sciences since 2021.
Eran Segal is a Professor at the Department of Computer Science and Applied Mathematics at the Weizmann Institute of Science, heading a lab with a multi-disciplinary team of computational biologists and experimental scientists in the area of Computational and Systems biology. His group has extensive experience in machine learning, computational biology, and analysis of heterogeneous high-throughput genomic data. His research focuses on Microbiome, Nutrition, Genetics, and their effect on health and disease. His aim is to develop personalized medicine based on data from large-scale and deeply phenotyped human cohorts.
Prof. Segal published over 200 publications, and received several awards and honors for his work, including the Overton prize, awarded annually by the International Society for Bioinformatics (ICSB) to one scientist for outstanding accomplishments in computational biology, and the Michael Bruno award. He was also elected as an EMBO member and as a member of the young Israeli academy of science. During the COVID-19 pandemic, Prof. Segal developed models for analyzing the dynamics of the pandemic and served as a senior advisor to the government of Israel.
Before joining the Weizmann Institute, Prof. Segal held an independent research position at Rockefeller University, New York.
Education: Prof. Segal was awarded a B.Sc. in Computer Science summa cum laude in 1998, from Tel-Aviv University, and a Ph.D. in Computer Science and Genetics in 2004, from Stanford University.
Dr. Singh is a Professor of Human Genetics and Pediatrics and Director of the Genetic Metabolic Nutrition Program at Emory University School of Medicine in Atlanta, Georgia, USA. With over 25 years of research and clinical experience in the field of inborn errors of metabolism (IEM), her clinical research interest focuses on the efficacy of restrictive diets and genotype/phenotype relationships.
Her primary career interests have included maximizing the benefits of the early identification through newborn screening (NBS) and pre-symptomatic treatment with diets to improve health outcomes in children with IEM. She has led nationally recognized efforts in developing translational clinical research.
She is PI of the HRSA/MCHB (Health Resources and Services Administration/Maternal and Child Health Bureau) funded project “Enhanced Genetic Services and Newborn Screening Collaborative in Region 3” to identify gaps in genetic services, has served on the Board of the Society for Inherited Metabolic Disorders and served as the President of the Southeastern Regional Genetics Group (SERGG).
She is the founding President of the Genetic Metabolic Dietitians International (GMDI), is the leading Co-PI for the evidence based Nutritional Management Guidelines for Inherited metabolic disorders Project. She also served as the Chair for the nutrition section of the PKU Scientific Review Committee (State of the Science and Future Research Needs) of the National Institute of Health.
Dr. Singh is developing and leading efforts to create research-based programmatic interventions for patients with inherited metabolic disorders (IMDs) that result in optimal outcomes, including Medical Nutrition Therapy for Prevention (MNT4P) Program, primarily funded through the Georgia Department of Public Health and serves as the Co-Director of the Bio nutrition Research Unit of the Georgia Clinical and Translational Science Alliance (Georgia CTSA).
Senior neonatologist and metabolic diseases specialist, Dr. Staretz-Chacham is the director of the Rare Disease Center at Soroka Medical Center, Israel. Dr. Staretz-Chacham is also a senior lecturer at Ben Gurion University, and the treasurer of the Israeli Society for Metabolic Diseases. Her research interests: lysosomal storage disorders, mitochondrial disorders, and newborn screenings.
University College London , Institute for Women's Health
Simon Waddington is Professor of Gene Therapy at UCL. He leads a team developing translational gene therapy for childhood inherited genetic diseases including neurodegenerative diseases, inherited epilepsy and metabolic diseases. With Professors Manju Kurian, Paul Gissen and Ahad Rahim, he has co-founded a gene therapy company “Bloomsbury Genetic Therapies” which is progressing four gene therapy programmes to the clinic. They are gene therapy for Ornithine Transcarbamylase Deficiency, Infantile Neuronaxonal Dystrophy, Niemann Pick C and Dopamine Transporter Deficiency Syndrome.
He and his team have received funding from the UK Medical Research Council Developmental Pathway Funding Scheme and LifeArc for translational projects to treat Dravet Syndrome and Dopamine Transporter Deficiency Syndrome. Collaborating with Prof Tristan McKay (Manchester Metropolitan University) he obtained a European Research Council starter grant of €1.5 million from the European Research Council to develop the means to quantify signalling pathways in diseased organs and tumours continually and non-invasively. Working alongside the teams of Professors Andy Baker (Edinburgh), Stu Nickin (Glasgow), John McVey (University of Surrey) and Alan Parker (Cardiff) he elucidated one of the fundamental mechanisms by which adenovirus vectors transduce cells. He has several long-standing international collaborations including Drs Jerry Chan (Duke-NUS Graduate Medical School Singapore and Prof Patrick Arbuthnot (University of Witwatersrand, South Africa) where he holds an honorary chair.
He and his team have more than one hundred and sixty peer reviewed publications in journals including Nature, Cell, Nature Medicine, Science Translational Medicine, Nature Immunology, Nature Communications, Cell Metabolism and Blood.
Douglas C. Wallace
Perelman School of Medicine, University of Pennsylvania
Douglas C. Wallace received his PhD in Microbiology and Human Genetics from Yale in 1975 and MD from the University of Padua in 2022. He has held faculty positions at Stanford, Emory, UC Irvine, and currently the University of Pennsylvania and Children’s Hospital of Philadelphia. Wallace founded the field of Mitochondrial Medical Genetics. The mitochondria supply the cell’s energy and contain their own DNA, the mitochondrial DNA (mtDNA), which codes for key energy genes of oxidative phosphorylation (OXPHOS). In the 50 years that he has studied mammalian mitochondria he defined the rules of mtDNA genetics including demonstrating the maternal inheritance of the human mtDNA. He then used this information to discover the first mtDNA diseases and subsequently linked mitochondrial genetic variation to a wide range of metabolic, degenerative, and neuropsychiatric disorders. Wallace also showed that mtDNA variation accumulates sequentially along radiating maternal lineages and catalogued the mtDNA variation of indigenous peoples around the world permitting him to reconstruction the origin and ancient migrations of women. He then showed that a portion of the population-specific mtDNA variation permitted our ancestors to adapt to new environments and that some of these adaptive variants are risk factors for a wide range of diseases from autism to diabetes to neurodegenerative diseases. Wallace also created the first mouse models of mitochondrial disease and is using these models to understand the etiology of both rare and common diseases. His current research is examining the role of mitochondria dysfunction in viral infections, specifically SARS-CoV-2; neurodegenerative diseases including Alzheimer disease and neuropsychiatric disorders; cancer; immunology; and in the development of metabolic and genetic therapies.