David Valle, M.D.

Dr. Valle is the Henry J. Knott Professor and Director of the McKusick-Nathans Institute of Genetic Medicine with a co-primary appointment in the Department of Pediatrics and joint appointments in the Departments of Molecular Biology & Genetics and Ophthalmology at Johns Hopkins University School of Medicine. His research interests include all aspects of human genetic disease with an emphasis on inborn errors of metabolism, inherited retinal degenerations, rare Mendelian disorders and identification and understanding of genetic factors that contribute increase susceptibility for neuropsychiatric diseases such as schizophrenia.

Dr. Valle is a member of the Institute of Medicine of the National Academy of Science, the Association of American Physicians and a fellow of the American Association for the Advancement of Science. He is a past president of the American Society of Human Genetics and the Society for Inherited Metabolic Disorders. He is also director of the Johns Hopkins School of Medicine Predoctoral Training Program in Human Genetics as well as Co-Director of the Short Course in Medical and Experimental Mammalian Genetics at The Jackson Laboratory (the McKusick Course). In 2003 Dr. Valle received the Colonel Harland Sanders Award for Lifetime Achievement in Genetics Research and Education from the March of Dimes Foundation, the 2014 Victor A. McKusick Leadership Award and in 2016 the Arno Motulsky – Barton Childs Award for Excellence in Human Genetics Education, both from the American Society of Human Genetics.

Bert Vogelstein, M.D.

Investigator, Howard Hughes Medical Institute, Clayton Professor of Oncology and Pathology The Johns Hopkins University School of Medicine, Baltimore, Maryland

Dr. Vogelstein attended the University of Pennsylvania, where he graduated Summa Cum Laude with distinction in mathematics and additionally won the Rosenbaum Award for outstanding undergraduate work in Semitic languages and literature. He obtained his medical degree at the Johns Hopkins University School of Medicine and performed his internship and residency in pediatrics at the Johns Hopkins Hospital. Following his clinical training, Dr. Vogelstein completed a post-doctoral fellowship at the National Cancer Institute, focusing on the development of new techniques in molecular biology. He returned to Johns Hopkins as an Assistant Professor in Oncology, and is now Clayton Professor of Oncology and Pathology. Dr. Vogelstein also holds a joint appointment in Molecular Biology and Genetics at JHU and is an Investigator of the Howard Hughes Medical Institute. He was recently appointed Director of the Ludwig Center for Cancer Genetics & Therapeutics at the Johns Hopkins Kimmel Cancer Center.

Dr. Vogelstein has received numerous awards recognizing his pioneering studies on the pathogenesis of human cancer. These include the Young Investigator Award from the American Federation for Clinical Research, The Bristol Myers Squibb Award for distinguished achievement in cancer research, the American Cancer Society Medal of Honor, The Gairdner Foundation International Award in Science, the Shacknai Memorial Prize from the Hebrew University, The Dickson Prize from the University of Pittsburgh, the Pezcoller Foundation Award, the Baxter Award from the Association of American Medical Colleges, the Howard Taylor Ricketts Award from the University of Chicago, the Ernst Schering Prize, the Passano Award, the Clowes Memorial Award from the American Association for Cancer Research, the William Beaumont Prize in Gastroenterology from the American Gastroenterological Association, the Karnofsky Memorial Award from the American Society for Clinical Oncology, the Paul Ehrlich and Ludwig Darmstaedter Prize from the Paul Ehrlich Foundation, the William Allan Award from the American Society of Human Genetics, the Richard Lounsbery Award from the National Academy of Sciences, the Louisa Gross Horwitz Prize from Columbia University, the Harvey Prize in Human Health from the Technion, the Charles S. Mott Prize from the General Motors Cancer Research Foundation, the John Scott Award from the John Scott Trust, the New York Academy of Medicine Medal for Distinguished Contributions to Biomedical Science, the Prince of Asturias Award in Science from The Prince of Asturias Foundation, and the Pioneer in Science Award from the American Research Forum.

Dr. Vogelstein was elected to the American Academy of Arts & Sciences as well as the National Academy of Sciences, USA in 1992, to the American Philosophical Society in 1995, to the Institute of Medicine in 2001 and to the European Molecular Biology Organization (EMBO) in 2005. His advisory roles have included Chairmanship of the National Research Council Committee on the Biological and Biomedical Applications of Stem Cell Research and the Board of Scientific Counselors of the National Human Genome Research Institute. He is an inventor of more than 100 issued U.S. patents. Dr. Vogelstein has also held editorial positions at Science, Molecular Cell, Cancer Cell and The New England Journal of Medicine.

Kenneth W. Kinzler, Ph.D.

Professor of Oncology The Johns Hopkins University School of Medicine, Baltimore, Maryland

Kenneth Kinzler is Professor of Oncology at The Sidney Kimmel Comprehensive Cancer Center (SKCCC) at the Johns Hopkins University School of Medicine. According to the Institute for Scientific Information in Philadelphia, Dr. Kinzler is one of the most influential scientists alive today. He has produced classic studies of the genes causing human cancer including the discovery of APC, the gene that initiates virtually all colorectal tumors. His subsequent analyses of the functional properties of the APC gene product have had widespread ramifications for developmental biology as well as cancer biology. He is also internationally renowned for his development of genetic methods for analyzing gene expression and mutations in human cancer. His work has spawned over 100 patent applications, most focused on the use of genetic approaches to improve the diagnosis and management of patients with cancers and other serious diseases.

Dr. Kinzler received his B.S. in Toxicology from the Philadelphia College of Pharmacy and Science, graduating Magna cum laude and obtaining the highest average in the toxicology curriculum. In 1988, he received a doctorate in Pharmacology and Molecular Sciences from the Johns Hopkins University School of Medicine, where he also completed a fellowship in oncology. In 1990, he joined the faculty of the SKCCC. Dr. Kinzler was promoted to Professor of Oncology in 1999 and is currently co-director of the Ludwig Center at Johns Hopkins University.

Among his many honors are the Philadelphia College of Pharmacy and Science Alumni Award, The Johns Hopkins University School of Medicine Sandoz Award for Superior Academic Achievement and Contribution to Health Care, and the David Israel Macht Award for Excellence in Research. He’s a recipient of a National Cancer Institute’s Merit grant and an original member of the Institute for Scientific Information Highly Cited Researchers. He has coauthored over 240 peer-reviewed articles on the molecular analyses of cancer and what many consider to be the definitive book on human cancer genetics. When Dr. Kinzler was only 46, he had already ranked among the most influential scientists worldwide over the past 25 years. In summary, Dr Kinzler is a world recognized expert on the molecular and genetic analysis of human cancer who has been responsible for numerous advances in this field.

Stylianos E. Antonarakis, M.D., D.Sc.

Professor of Medical Genetics, Division of Medical Genetics, University of Geneva Medical School, Geneva, Switzerland Director, Division of Medical Genetics, University and Cantonal Hospital of Geneva, Switzerland

Stylianos E. Antonarakis is a medical, molecular, and human geneticist who studied extensively the relationship between genomic variation and phenotypic variation. He is currently Professor and Chairman of Genetic Medicine at the University of Geneva Medical School. He received his MD and DSc degrees from the University of Athens Medical School, and specialized in Pediatrics (Aghia Sophia Pediatrics University Hospital, Athens Greece, in the clinic of Prof. Nicholas Matsaniotis) and Medical Genetics at the Johns Hopkins University School of Medicine with Haig H. Kazazian. He joined the faculty of The Johns Hopkins University in 1983 and became professor of Pediatric Genetics, Biology, and Medicine in 1990. In 1992 he moved to Geneva, Switzerland to chair Genetic Medicine in the University and Hospital of Geneva.

His research work and accomplishments include the understanding of the molecular bases of monogenic disorders and complex genetic disorders including the beta-thalassemias, hemophilias, and trisomy 21. In addition his laboratory participated in the human genome sequence and functional analysis, particularly on chromosome 21. He is an international expert on disorders of chromosome 21, cloning of genes for genetic disorders, development of diagnostic tests, genome structure and function, studies of the genome variability, and conserved non-coding sequences in human DNA.

Dr. Antonarakis has published extensively (more than 520 well-cited papers) in the scientific literature; he is listed as one of the highly cited scientists by the ISI institute. He was the President of the European Society of Human Genetics, a member of the HUGO Council, a foreign member of the Academy of Athens, and a member of EMBO. He is the co-organizer of the European School of Genetic Medicine and in the last 25 years taught in the Bar Harbor Genetics Course, Maine. He was awarded the Society of Pediatric Research Young Investigator Award, the International Jerome Lejeune Prize, the European Society of Human Genetics Award, and was elected to the Society of Scholars of The Johns Hopkins University in 2006.

More than 70 talented young scientists were trained in his laboratory (graduate students and postdoctoral fellows); in addition more than 20 young physicians were trained in the Medical Genetics Clinic of his department. He was involved with Haig Kazazian in the establishment of one of the first molecular diagnostic laboratories in US as early as 1982. His research laboratory was/is supported by grants from the National Institutes of Health, the European Union, and the Swiss National Science Foundation and numerous other Foundations. His current interests and research projects are the functional analysis of the genome, effect of human genetic variation to phenotypic variation, the molecular pathogenesis of trisomy 21 and polygenic phenotypes, diagnostics and prevention of genetic disorders, and the societal implications of genetics and genome research.

Andrea Ballabio, M.D.

Director of the Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy
Professor of Medical Genetics University "Federico II", Naples, Italy

Andrea Ballabio was born in Naples, Italy on January 27th, 1957. After his graduation in Medicine in 1981 at the University of Naples, Italy, he took residency training in Pediatrics at the same university. He has spent several years working in the field of genetic diseases, first in Italy, then in the UK and subsequently in the USA where he held the positions of Associate Professor of Molecular Genetics and of Co-director of the Human Genome Center at the Baylor College of Medicine, Houston, Texas. In 1994 he founded, together with the “Fondazione Telethon”, the Telethon Institute of Genetics and Medicine (TIGEM), of which he is the director. Today the Institute hosts approximately 170 people. At present he is Full Professor in Medical Genetics at the Faculty of Medicine of the University of Naples “Federico II”, as well as Scientific Director of the TIGEM.

Prof. Ballabio’s research interests are the elucidation of the biological mechanisms underlying genetic diseases, using both traditional and state of the art genomic approaches, and the development of innovative therapeutic approaches. He has published approximately 230 papers in prestigious, international scientific journals. Prof. Ballabio was the President of the European Society of Human Genetics, he is a member of the European Molecular Biology Organization (EMBO) and has received numerous national and international awards for research and culture. He is also member of many advisory boards of international organizations, such as the European Union, the Welcome Trust, Genome Canada, among others. Moreover, Prof. Ballabio is a member of the editorial boards of many scientific journals and international scientific societies.

In 2007, Prof. Ballabio has been appointed “Commendatore of the Italian Republic” by the Italian President Giorgio Napolitano, and received the International Award of the European Society of Human Genetics.

Grant Mitchell, M.D.

Professor, Medical Genetics Division, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montreal, Canada

Dr. Mitchell is a biochemical geneticist who earned a BSc in Biochemistry and an M.D. from the Univesity of Saskatchewan. After an internship in general medicine at the Toronto General Hospital and a pediatrics residency divided between The Hospital for Sick Children, Toronto, Hôpital Sainte-Justine, Montreal and Hôpital Necker-Enfants Malades in Paris, he completed clinical and research fellowships in metabolism and genetics at Hôpital Necker-Enfants Malades, Hôpital Sainte-Justine and at Johns Hopkins University School of Medicine. He has been on the faculty of Hôpital Sainte-Justine since 1988. He is board-certified in clinical, biochemical and molecular genetics and is interested in the interplay of metabolism and genetics and their application to patient care. His clinical research involves inherited metabolic diseases in isolated populations, including hepatorenal tyrosinemia, French-Canadian type Leigh disease, HHH syndrome and other inborn errors that are frequent in Quebec. His laboratory research focuses on diseases of ketogenesis, adipocyte lipolysis and mitochondrial energy metabolism.

Nicola Brunetti-Pierri, M.D.

Associate Investigator at the Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy and Associate Professor of Pediatrics ‘Federico II’ University, Naples, Italy.

Nicola Brunetti-Pierri graduated in Medicine from Federico II University of Naples, Italy. After his residency in Pediatrics at Federico II University of Naples, he moved to Baylor College of Medicine, Houston, USA for a post-doctoral research fellowship and clinical trainings in medical genetics and biochemical genetics. He was Assistant Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine from 2006 to 2010 and then moved back to Italy.

As a pediatrician and geneticist, he studies genetic diseases and inborn errors of metabolism and his research focuses at developing novel therapies for these disorders. His research has been funded by the National Institute of Health and European Research Council. His research activity has been recognized on both side of the ocean by important awards of the American and European societies of gene and cell therapy (ASGCT and ESGCT).

Editors Emeritus

Charles R. Scriver, CC, GOQ, GM, MDCM, DSc (HON), FRS, FRSC

Alva Professor of Human Genetics, Professor of Pediatrics, Faculty of Medicine, Professor of Biology, Faculty of Science McGill University, Montreal, Quebec, Canada
Director (retired), deBelle Laboratory of Biochemical Genetics and Biochemical Genetics Clinical Unit McGill University - Montreal Children's Hospital Research Institute McGill University Health Centre, Montreal, Quebec, Canada

Dr. Scriver received his BA and MDCM degrees (cum laude) from McGill University. Internship and residencies, first in medicine, then in pediatrics, were at McGill University teaching hospitals, Harvard Children’s Medical Center and again at McGill University. From 1958 to 1960 he was a McLaughlin Travelling Fellow at University College Hospital Medical School, University of London, in the Human Metabolism Unit. This experience, and meetings with Prof. Harry Harris, started his career in human (biochemical) genetics.

Dr. Scriver was appointed at McGill’s Department of Pediatrics as a Markle Scholar, then as an Associate of the Medical Research Council of Canada and later as Professor of Pediatrics. He is currently Professor Emeritus of Pediatrics, Biochemistry (Associate), Biology (Honorary), and Human Genetics in the Faculties of Medicine and Science at McGill University and Alva Professor Emeritus of Human Genetics. He has been President of the Society for Pediatric Research; the Canadian Society for Clinical Investigation; the American Society of Human Genetics; the UK Society for the Study of Inherited Metabolic Diseases; the American Pediatric Society and in 1991 he became an elected Fellow of the London Royal Society and of the American Association for the Advancement of Science. He has been active on committees of the National Academy of Sciences, World Health Organization, the American Academy of Pediatrics, and the Science Council of Canada, among others. He holds several honorary degrees and civil honours from Canada, Quebec, and Montreal and has received awards for his work in service, education and research. Dr. Scriver and his team received the Querci Prize from Italy, the Henry Friesen Award from the Canadian Society of Clinical Investigators and the Royal College of Physicians and Surgeons by induction into the Canadian Medical Hall of Fame and the Canadian Science and Engineering Hall of Fame, and was also recipient of the award for Human Genetics Education from the American Society of Human Genetics.

Dr. Scriver was co-director and then Director of the Medical Research Council Group in Genetics and co-Director of the Canadian Genetic Diseases Network (Network of Centers of Excellence). He was Senior Editor of The Metabolic and Molecular Bases of Inherited Disease, and now Scriver Editor Emeritus of the online version, OMMBID, which received the 1995 Medical Book Award from the American Medical Writers Association for the best book in its category. His current research includes human (population), genetic and phenomic variation as revealed at the PAH (PKU) locus, the informatics involved in the HUGO Mutation Database Initiative, and new ways to treat genetic disease.

William S. Sly, M.D.

James B. and Joan C. Peter Endowed Chair Edward A. Doisy Department of Biochemistry and Molecular Biology Professor of Pediatrics Saint Louis University School of Medicine, St. Louis, Missouri

Dr. William Sly received training in Internal Medicine at Washington University in St. Louis, after which he spent five years acquiring biochemical and genetic research training at the NIH, in Paris, and in Madison, Wisconsin. He returned to St. Louis in 1964 to found the Division of Medical Genetics at Washington University and St. Louis Children’s Hospital. Except for sabbatical years at Oxford and Stanford, he has spent his entire career in St. Louis. He moved across town to Saint Louis University in 1984 to become Chairman of the Edward A. Doisy Department of Biochemistry and Molecular Biology.

Dr. Sly’s research interests involve lysosomal storage disorders, particularly MPS VII or Sly disease, biochemical genetics of human carbonic anhydrases, and hereditary hemochromatosis. Sly’s research on MPS VII and lysosomal enzyme transport led to his election to the National Academy of Sciences in 1989 and to share the Passano Foundation Award in 1991 with Dr. Stuart Kornfeld. He served as an Editor of the 6th to 8th print editions of MMBID and the initial online version. In 2007, Dr. Sly became an Emeritus Editor when Dr. Ballabio joined the Editorial team and assumed many of his responsibilities.

Arthur L. Beaudet, M.D.

Henry and Emma Meyer Professor and Chair, Department of Molecular and Human Genetics, Professor, Departments of Pediatrics and Molecular and Cellular Biology Baylor College of Medicine, Houston, Texas

Dr. Beaudet received his M.D. degree from Yale, did pediatric residency training at Johns Hopkins, and was research associate at the National Institutes of Health before joining Baylor College of Medicine where he has remained to the present. Dr. Beaudet has made diverse contributions in the field of mammalian genetics and publishing over 200 original research articles. Dr. Beaudet is currently the Henry and Emma Distinguished Service Professor and Chair in the Department of Molecular and Human Genetics at Baylor College of Medicine in Houston.

Part Editors

Fred Bunz, M.D., Ph.D.

Associate Professor, Department of Radiation Oncology and Molecular Radiation Sciences The Johns Hopkins University School of Medicine, Baltimore, Maryland

Fred Bunz earned his B.S., M.D. and Ph.D. degrees at Stony Brook University in New York. His doctoral research was performed in the laboratory of Bruce Stillman at Cold Spring Harbor Laboratory and involved the successful cloning of the gene that encodes the large subunit of the DNA replication clamp loading protein complex, RF-C. Dr. Bunz came to Johns Hopkins in the fall of 1994, joining the laboratory of Ken Kinzler and Bert Vogelstein. While in the Kinzler/Vogelstein group, Dr. Bunz studied p53 and its role in DNA damage responses. He founded his own laboratory in 2001, in what was then the radiobiology program in the Department of Oncology. Since its integration into the newly created Department of Radiation Oncology and Molecular Radiation Sciences in 2003, the Bunz laboratory has continued to study how normal proliferating cells and cancer cells respond to DNA damage and inhibition of DNA replication. The goals of this research are to identify and validate molecular targets for novel therapies and to elucidate the functions of the DNA damage signaling network. Dr. Bunz holds joint appointments in the Department of Oncology and in Cellular and Molecular Medicine.