Charis Eng, MD, PhD is a global leader in cancer genetics and cancer genomic medicine and was the first to link PTEN to Cowden Syndrome and to autism spectrum disorder. She continues in her dedication to study PTEN in health and disease, working towards early detection, prevention, and treatment. Dr. Eng is an elected member of the Institute of Medicine of the National Academies of Sciences and one of only four formally trained clinical cancer geneticists in the country. She is the inaugural Chairwoman of the Genomic Medicine Institute and founding Director of its Center for Personalized Genetic Healthcare at Cleveland Clinic’s Lerner Research Institute. She is also the Medical Director of their PTEN/Cowden Multidisciplinary Clinic.
Dr. Pier Paolo Pandolfi received his M.D. in 1989 and his Ph.D. in 1995 from the University of Perugia, Italy, after having studied Philosophy at the University of Rome, Italy. He received post-graduate training at the National Institute for Medical Research and the University of London in the UK. He became an Assistant Member of the Molecular Biology Program and the Department of Human Genetics at Memorial Sloan-Kettering Cancer Center in 1994. Dr. Pandolfi grew through the ranks to become a Member in the Cancer Biology and Genetics Program at the Sloan Kettering Institute; Professor of Molecular Biology and Human Genetics at the Weill Graduate School of Medical Sciences at Cornell University; Professor, Molecular Biology in Pathology and Laboratory Medicine, Weill Medical College at Cornell University; and Head of the Molecular and Developmental Biology Laboratories at MSKCC. Dr. Pandolfi was also the incumbent of the Albert C. Foster Endowed Chair for Cancer Research at Memorial Sloan-Kettering Cancer Center. Dr. Pandolfi presently holds the Reisman Endowed Chair of Medicine and is Professor of Medicine and Pathology at Harvard Medical School (HMS). He joined the HMS faculty at Beth Israel Deaconess Medical Center (BIDMC) in 2007 to serve as Scientific Director of the Cancer Center, the Director of the Cancer Genetics Program, and the Chief of the Division of Genetics in the Department of Medicine; he is also a Member of the Department of Pathology at BIDMC. He was recently appointed to serve as the Cancer Center Director and the Director of the Cancer Research Institute at BIDMC and HMS. Dr. Pandolfi has been the recipient of numerous Awards for his research including the LLSA Scholar Award (1997), the Irma T. Hirschl Trust Award (1999), the Alexandra J. Kefalides Prize for Leukemia Research (1999), the Louise and Allston Boyer Young Investigator Award in Biomedical Research (1999), the Hamdan Award for Medical Research Excellence (2000), the Lombroso Prize for Cancer Research of the Weizmann Institute of Science (2001), the Leukemia and Lymphoma Society’s Stohlman Scholar Award (2001), the William and Linda Steere Foundation Award (2004), the prize for Scientific Excellence in Medicine from the American-Italian Cancer Foundation (2005), the Fondazione Cortese International Award (2008), the Prostate Cancer Foundation Creativity Award (2009) and the Ischia International Award (2009). He also has been awarded the NIH MERIT Award for superior competence and outstanding productivity in research in 2005. In 2006, Dr. Pandolfi was elected as a member of the American Society for Clinical Investigation (ASCI) and the American Association of Physicians (AAP), and in 2007 as Member of the European Molecular Biology Organization (EMBO). In 2011, Dr. Pandolfi received the Pezcoller Foundation–AACR International Award for Cancer Research. He was also awarded the Scanno International Award for Medicine in 2012, the Pomilio Ethic International Award in Biomedicine, the European Foundation Guido Venosta Award for Cancer Research in 2013, and the America International Award in 2014. In 2015, Dr. Pandolfi was knighted by the President of the Italian Republic and received the Medal of Honor as “Officer of the Order of the Star of Italy” (Ufficiale dell’Ordine della Stella d’Italia). Dr. Pandolfi has also received the prestigious Outstanding Investigator Award from the NIH/NCI in 2015. The research carried out in Dr. Pandolfi’s laboratory has been seminal to elucidating the molecular mechanisms and the genetics underlying the pathogenesis of leukemias, lymphomas, and solid tumors as well as in modeling these cancers in the mouse. Dr. Pandolfi and colleagues have characterized the function of the fusion oncoproteins and the genes involved in the chromosomal translocations of acute promyelocytic leukemia (APL), as well as of major tumor suppressors such as PTEN and p53, and novel cancer genes such as POKEMON and INPP4B. The elucidation of the molecular basis underlying APL pathogenesis has led to the development of novel and effective therapeutic strategies. As a result of these efforts, APL is now considered a curable disease. Additional novel therapeutic concepts have emerged from this work and are currently being tested in clinical trials. More recently, Dr. Pandolfi and colleagues have presented a new theory describing how mRNAs, both coding, and non-coding, exert their biological functions with profound implications for human genetics, cell biology, and cancer biology.
Ramon Parsons, MD, PhD., grew up in Washington, DC, and graduated from Columbia College, Columbia University in 1983. Dr. Parsons then attended the State University of New York at Stony Brook where he received his M.D. and Ph.D. degrees in 1992. Dr. Parsons continued his education at Johns Hopkins University School of Medicine as a postdoctoral fellow with Bert Vogelstein. There, he and his colleagues discovered that inactivation of DNA mismatch repair genes cause hereditary colorectal cancer. At Columbia University Medical Center, his research laboratory identified the PTEN tumor suppressor gene, which he showed is inactivated in a wide variety of cancers and cancer predisposition syndromes. He has been a leader in establishing the importance of PTEN and the PI3K pathway for cancer using a combination of genetic, biochemical, human tissue, metabolic, and systems biology approach. In 2013, he joined the faculty at the Icahn School of Medicine at Mount Sinai as Ward-Coleman Professor in Cancer Research, Chairman of the Department of Oncological Sciences and co-Leader of the Cancer Mechanisms Program of the Tisch Cancer Institute. In 2016, he was selected as an Icahn Scholar and as the Deputy Director of the Tisch Cancer Institute. Recently, Dr. Parsons was appointed Director of the Tisch Cancer Institute, ISMMS, and Director of Mount Sinai Cancer, MSHS. Prior to joining the faculty at ISMMS, Dr. Parsons was the Avon Professor of Pathology and Medicine and Leader of the Breast Cancer Program of the Herbert Irving Cancer Center at Columbia University Medical Center. Dr. Parsons is a member of the American Society for Clinical Investigation and the American Association of Physicians. He is also a recipient of the 2011 American Association for Cancer Research Outstanding Investigator Award for Breast Cancer Research. He served as Chair of the Special Conferences Committee at the AACR from 2011-2017. Dr. Parsons was inducted into the Johns Hopkins University Society of Scholars in 2015 and, elected to the National Academy of Medicine in 2017.
Dr. Thomas Frazier is a licensed clinical psychologist who received his B.S. in psychology from John Carroll University in 1997 and his Ph.D. from Case Western Reserve University in 2004. After one year as a visiting assistant professor at John Carroll University, he joined Cleveland Clinic and until recently was the director of the Cleveland Clinic Center for Autism and an Assistant Professor of Pediatrics in the Cleveland Clinic Lerner College of Medicine. On April 1, Dr. Frazier joined Autism Speaks as Chief Science Officer. Dr. Frazier’s clinical interests include diagnostic evaluation as well the use of intensive behavioral intervention to improve functional outcomes for individuals with autism. In 2008, he re-trained in the leadership of translational science teams. Since that time, his research has focused on two areas: 1) improving early identification through the development of objective markers of autism using remote eye gaze tracking, and 2) translational studies of a genetic sub-group of autism associated with PTEN mutations. Dr. Frazier is also the father of a 13-year old son with autism. At Autism Speaks, Dr. Frazier oversees the science portfolio and hopes to continue the excellent tradition of funding the most innovative and impactful autism research that can ultimately enhance the lives of people with autism.
Dr. Holm Uhlig is an Associate Professor in the Translational Gastroenterology Unit, University of Oxford and Honorary Consultant in Pediatric Gastroenterology, Children’s Hospital Oxford. As a Pediatrician, Holm has developed a strong interest in supporting patients with genetic PTEN defects. As a research focus, he investigates rare genetic disorders that can lead to intestinal inflammation. Together with an international team of investigators, Holm has established that patients with PTEN harmatoma tumor syndrome (PHTS) develop autoimmunity and immune dysfunction. Understanding of the immune pathways that are dysregulated in patients with genetic defects in PTEN might not only allow to correct the immune dysfunction in PHTS itself but also help to understand general mechanisms that contribute to autoimmunity and intestinal inflammation.
Dr. Joanne Ngeow, BMedSci, MBBS, FRCP, MPH is Senior Consultant, Division of Medical Oncology at the National Cancer Centre Singapore and Associate Professor (Genomic Medicine) at the Lee Kong Chian School of Medicine, Nanyang Technological University Singapore. Dr. Ngeow is a joint Principal Investigator at the Institute of Molecular and Cell Biology, Agency for Science, Technology and Research Singapore (A*Star). Dr. Ngeow currently heads the Cancer Genetics Service at the National Cancer Centre Singapore with an academic interest in hereditary cancer syndromes and translational clinical cancer genetics. She was awarded consecutive fellowships by the National Medical Research Council and the Ambrose Monell Foundation to complete formal clinical and wet bench training in Cancer Genomic Medicine at the Genomic Medicine Institute, Cleveland Clinic, Ohio. She has published in and serves as a reviewer for many top-tiered peer-reviewed journals including the Journal of Clinical Oncology, JNCI, Gastroenterology. Dr. Ngeow is an Editorial Board Member for Endocrine Related Cancers. Dr. Ngeow is funded by the National Medical Research Council and Ministry of Health to explore how gene-environmental interactions predisposes to cancer initiation and progression and the implementation of genomics into routine clinical care.
Professor Hans FA Vasen, is a specialist in internal medicine and since 1985 medical director of the Netherlands Foundation for the Detection of Hereditary Tumours and staff member at the Department of Gastroenterology & Hepatology at the Leiden University Medical Centre. He established a large register of families with an inherited predisposition to cancer in the Netherlands. His main interest is the identification of families at risk for hereditary cancer, development of surveillance protocols and translating the results from molecular genetic studies into clinical practice. He published more than 350 articles in peer-reviewed journals. Since 2000, he is editor-in-chief of Familial Cancer.
Dr. Mustafa Sahin is a developmental neurobiologist and a pediatric neurologist. He received his Sc.B. degree from Brown University, his M.D., and Ph.D. from Yale School of Medicine. He completed a pediatrics residency at Children’s Hospital of Philadelphia and a child neurology residency at Boston Children’s Hospital. He is currently the director of the Translational Neuroscience Center at Boston Children’s Hospital and a professor of neurology at Harvard Medical School. Work in his lab has identified the mechanisms by which a genetic disease, tuberous sclerosis, leads to miswiring of neurons in the brain and potential therapies for this disorder. Current research focuses on translating these preclinical findings into the clinic and developing treatments for epilepsy and autism associated with activation of the mTOR pathway. He directs two national consortia to study biomarkers and comparative pathobiology of TSC and related neurodevelopmental disorders, including PTEN tumor hamartoma syndrome.
Dr. Holly Pederson is the Director of the Medical Breast Program at the Cleveland Clinic and Associate Professor of Medicine at the Cleveland Clinic Lerner College of Medicine of Case Western Reserve University. Her focus is on breast diagnostics, breast cancer risk assessment, and management of the high-risk patient. She runs a Hereditary High-Risk Clinic for patients with identified genetic mutations predisposing to breast cancer and is actively involved in clinical research. She is Board Certified in Internal Medicine, completed a clinical genetics fellowship at Cleveland Clinic in 2008 and City of Hope training in 2017. She serves on the Genomics High-Risk Focus Group at Cleveland Clinic as a member of the Cancer Genetics Program of the Case Comprehensive Cancer Center and on the NCCN Breast Cancer Risk Reduction Committee.