SBGM SBTEIM 2018

Convidados Internacionais

Brynn Levy (USA)

Brynn Levy, M.Sc. (Med), Ph.D., FACMG, is a Professor of Pathology and Cell Biology at the Columbia University Medical Center. He is also the Medical Director of the Clinical Cytogenetics Laboratory of the New York Presbyterian Hospital and a Co-Director of the Division of Personalized Genomic in the Department of Pathology & Cell Biology. Dr. Levy is regarded internationally as an expert in the clinical utility of genomic technologies in reproductive medicine. He has authored multiple book chapters and publications on molecular genetics, clinical cytogenetics and molecular cytogenetics and lectured internationally about his experience utilizing CGH and high resolution SNP microarrays both as a clinical and research tool. His research areas of interest include early prenatal screening using fetal cells and cell-free fetal DNA from maternal circulation, PGD and the etiology of recurrent miscarriage. Dr. Levy was a Co-Investigator of the Multicenter NICHD study that investigated the use of microarrays for prenatal diagnosis and was the Columbia University site Principal Investigator of a NIH-funded study from the Stillbirth Collaborative Research Network (SCRN) that assessed CNVs in stillbirths. Dr. Levy is the past President of the Cancer Genomics Consortium (GCC) and was the PI at Columbia University Medical Center for the GCG Multi-center Quality Control trial that performed cross-platform validation of cytogenomic arrays for cancer diagnostics. Dr. Levy currently serves as the Genetics and Genomics Section Editor for the journal Prenatal Diagnosis.

Eduardo Tizzano (Spain)

Professor Eduardo Tizzano, MD. PhD. was born in La Plata (Argentina) and is specialist in Pediatrics and Medical Genetics. He is actually Director of the Department of Clinical and Molecular Genetics and Rare Diseases of the Hospital Valle Hebron, one of the largest University Hospitals in Spain and Europe.

His main areas of research include the characterization of SMA during human development, genotype-phenotype correlations, identification of modifier genes and validation of biological markers publishing extensively in these areas as well as in other genetic disorders. He is very active in academic and research activities at national and international levels collaborating with different neuromuscular and genetic centers and participates as PI and collaborator in clinical trials.

Enzo Ranieri (Australia)

Chief Medical Scientist, Biochemical Genetics
Head of Biochemical Genetics
Department of Biochemical Genetics, Directorate of Genetics and Molecular Pathology SAPathology, at the Women's and Children's Hospital Adelaide, South Australia, Australia

Enzo Ranieri is the Head of the department of Biochemical Genetics within the Directorate of Genetics & Molecular Pathology, SAPathology at the Women's & Children's Hospital.

He obtained postgraduate degrees from Flinders University in the School of Medicine, Department of Neurophysiology and currently at the University of Adelaide department of Paediatrics.

He joined the then Department of Chemical Pathology at the Women's & Children's Hospital in 1982 as a senior research fellow working on inborn errors of metabolism of complex lipids. He was then appointed as the Head of Antenatal & Neonatal Screening Centre in 1986 developing expertise in maternal serum screening for chromosomal abnormalities and the identification of congenital disorders in the newborn. He has acquired over 25 years of experience in the field of inborn errors of metabolism (IEM) with certification in Biochemical Genetics as a fellow of the Human Genetics Society of Australasia (FHGSA). In 2012 he was awarded a Fellow of the Faculty of Science of the Royal College of Pathologists of Australasia (FFScRCPA).

Jennifer M. Kalish (USA)

Dr. Jennifer M. Kalish, MD, PhD is a clinical geneticist and physician-scientist at Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania. Her clinical work focuses on Beckwith-Wiedemann Syndrome and disorders of growth and genetic cancer predisposition. Her research focuses on addressing the unanswered clinical questions in epigenetic syndromes like BWS and other cancer predisposition disorders and understanding the clinical manifestations of the syndromes. She oversees the Beckwith-Wiedemann Syndrome Registry and the Beckwith-Wiedemann Syndrome Program of Excellence through the Orphan Disease Center at the University of Pennsylvania. She has written the American Association for Cancer Research guidelines for tumor screening in cancer predisposition disorders leading to Wilms tumors and hepatoblastoma and was an active participant in the new international consensus guidelines for BWS. Dr. Kalish earned her BA with honors in Physics and Chemistry from Harvard University. She received her MD with honors and PhD in Genetics from Yale University. Her PhD research focused on the biochemistry of DNA and methods for gene correction. She trained in Pediatrics and Clinical Genetics at Children's Hospital of Philadelphia and received a Masters in Translational Research from the University of Pennsylvania. Dr. Kalish's research is funded by NIH, the St. Baldrick's Foundation, Alex's Lemonade Stand Foundation, and the Margaret Q. Landenberger Foundation.

Michael J. Bennett (USA)

Michael J. Bennett Ph.D., FRCPath, DABCC, FACB, is Professor of Pathology and Laboratory Medicine at the University of Pennsylvania Perelman School of Medicine, Chief of Laboratory Medicine and Director of the Metabolic Disease laboratory at The Children's Hospital of Philadelphia. He holds the Evelyn Willing Bromley Endowed Chair in Clinical Laboratories and Pathology. He obtained his Ph.D. at the University of Sheffield, UK in the field of medical enzymology. Dr Bennett is past chair of the Pediatric and Maternal-Fetal and Proteomics and Metabolomics Divisions of the American association for Clinical chemistry (AACC), He is past president of the National Academy of Clinical Biochemistry, past treasurer and immediate past president of AACC. He is an associate editor for Clinical Chemistry Journal, Annals of Clinical Biochemistry and sits on the editorial boards of Journal of Inherited Metabolic Diseases and Molecular Genetics and Metabolism. Dr Bennett's research activities include the use of mass spectrometry in the investigation of inborn errors of mitochondrial energy metabolism with a special emphasis on disorders of fatty acid metabolism. He has published over 290 original peer-reviewed articles and 50 book chapters in the field of pediatric clinical chemistry and inherited metabolic diseases. Dr. Bennett also carries out research on a rare untreatable neurodegenerative disorder of children called Batten disease.

R. Rodney Howell (USA)

R. Rodney Howell, M. D. is Professor of Pediatrics and Chairman Emeritus, at the Miller School of Medicine of the University of Miami. He is a graduate of the Duke University School of Medicine, where he was elected to the Alpha Omega Alpha Honor Society. He is certified by the American Board of Pediatrics, as well as by the American Board of Medical Genetics in Clinical Biochemical Genetics.

Following four years at the National Institutes of Health, he began his academic career as the Joseph P. Kennedy Jr. Scholar in Mental Retardation and Associate Professor of Pediatrics at the Johns Hopkins University School of Medicine. Later, Dr. Howell was the David R. Park Professor and Founding Chairman of Pediatrics at the University of Texas Medical School at Houston, before becoming Chair of Pediatrics at the University of Miami. He is an elected Fellow of the American Association for the Advancement of Science.

Stylianos E. Antonarakis (Switzerland)

Stylianos E. Antonarakis is Professor and Chairman of Genetic Medicine at the University of Geneva Medical School, and director of the iGE3 institute of Genetics and Genomics of Geneva. He is a physician-scientist, human geneticist, who extensively studied the relationship between genomic variation and phenotypic variation. He was educated in the University of Athens (MD and DSc) and the Johns Hopkins University School of Medicine (Human Genetics).

His academic contributions at the Johns Hopkins and the University of of Geneva spans more than 30 years, and include the understanding of the molecular bases of monogenic disorders and complex genetic disorders including the beta-thalassemias, hemophilias, and trisomy 21, and the functional variability of the human genome. He has published extensively (more than 620 papers), is co-editor of the current edition of the classic textbook Genetics in Medicine, and he is listed as one of the highly cited scientists by the ISI institute (h-index 94).

He was the President of the European Society of Human Genetics, and was recently elected as the next President of HUGO. 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, the functional characterization of the conserved fraction of the genome, diagnostics and prevention of genetic disorders, and the societal implications of genetics and genome research.

Sufin Yap (United Kingdom)

Professor Sufin Yap is a Consultant Paediatrician in Metabolic Medicine at Sheffield Children's Hospital and an honorary senior lecturer at the University of Sheffield, UK, since 2012. She was formerly a Consultant Metabolic Paediatrician at the National Center for Inherited Metabolic Disorders, Dublin. She graduated from the Royal College of Surgeons in Ireland and received her Doctorate on Classical Homocystinuria in 2000.

Six of her published works were selected in three consecutive years at the Irish Journal of Medical Science (IJMS) Doctor / Royal Academy of Medicine Ireland (RAMI) Awards for excellence in clinical research (2000-2002). She was the recipient of the IJMS/ RAMI Award for the "Risk Factor Medicine" category in 2001 for her vascular work on homocystinuria and of the Royal Academy of Medicine Ireland Paediatric Registrar Medal in 2001 for work published on the effects of early dietary treatment in the prevention of mental retardation in patients with homocystinuria.

Her clinical interests are in nutritional treatment and inherited metabolic disorders, particularly homocystinuria and its obligate carriers. She has a long and vast clinical and research experience in managing Inherited Metabolic Disorders. Her current research interests include work on the vascular component in homocystinuria and inherited thrombophilia aimed at evaluating current treatment regimens in reducing vascular risk. She has more than 100 international presentations, publications and abstracts. Her other interests include disseminating knowledge on management of metabolic diseases in the Far East, assisting in developing skills and techniques for investigative tests to be available locally, and treatment in acute metabolic encephalopathies.

Thierry Frebourg (France)

Thierry Frebourg is Professor of Genetics, Head of the Department of Genetics, Rouen University Hospital, Director of the Inserm U1245 and of the Normandy Centre for Medical Genomics and Personalized Medicine in France. He obtained his M.D at Rouen University in 1986, his Ph.D in Molecular Biology at the University of Paris VII in 1990 and did his post-doc at the Massachusetts General Hospital, Harvard Medical School in Boston. He is a clinical and molecular geneticist whose research is focused on inherited forms of cancer, and more generally on medical applications of NGS and interpretation of genomic variations. His group combines expertise in clinics, genomic technologies, bioinformatics, statistical analyses and functional analyses of genetic variants in cellular assays. He has co-authored 424 publications in medical genetics and molecular biology (H-index 63). Until September 2016, he was Co-Director of the Genetics, Genomics and Bioinformatics Institute (ITMO), National Alliance for Life and Health Sciences, Aviesan, Paris and participated to the writing of the National Genomic Plan 2025.