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. Phillip A. Dennis was an Echols Scholar at The University of Virginia and received his B.A. with High Distinction in 1984. He received his Ph.D. and M.D. degrees in 1991 and 1992, respectively, from the New York University School of Medicine as part of the Medical Scientist Training Program. He went on to complete his internship and residency training in the Department of Internal Medicine at Johns Hopkins Hospital. From 1995 to 1996, Dr. Dennis completed a fellowship in Medical Oncology at the Johns Hopkins Oncology Center. He worked in the laboratory of Dr. Michael Kastan as a postdoctoral fellow from 1996 to 1998. In 1999, Dr. Dennis joined NIH as a tenure-track investigator in the Signal Transduction Section, and in 2005 became the Clinical Service Director at NCI/Navy Medical Oncology. Dr. Dennis was a Tenured Senior Investigator at NCI from 2006-2011. In early 2012, Dr. Dennis was appointed the Director of the Sidney Kimmel Comprehensive Cancer Center and the Department Chair of Oncology at Johns Hopkins Bayview. Dr. Dennis oversees a productive basic research program focused on lung cancer and he is also an active clinical investigator. Dr. Dennis developed an interest in Cowden Syndrome while working at the National Cancer Institute, due to the common loss of PTEN function in several types of cancers and the results of studies performed in his laboratory that focused on reversing the effects of PTEN loss in mouse models with FDA approved drugs and experimental drugs. He served as Principal Investigator of a clinical trial testing an mTOR inhibitor, sirolimus, in adults with Cowden Syndrome. He continues to study the systemic effects of PTEN loss and to identify drugs that could serve to reverse or prevent changes due to loss of PTEN.
Dr. Dennis presently serves on six editorial boards and has served on numerous review committees and external advisory committees. He has also served as Chair or Co-Chair for Scientific Sessions at major national and international meetings and has given many seminars and Grand Rounds presentations.
Professor Hans FA Vasen, is 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 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 Joanne Ngeow, MBBS, MRCP, is Consultant, Division of Medical Oncology at the National Cancer Centre Singapore and Assistant Professor with the Oncology Academic Clinical Program, Duke-NUS Graduate Medical School. Dr Ngeow currently leads 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 bench training in Cancer Genomic Medicine at the Genomic Medicine Institute, Cleveland Clinic, Ohio. Dr Ngeow’s research focuses on understanding how gene-environmental interactions predisposes to cancer initiation and progression.
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 a 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.
Mira Milas MD, FACS is a surgeon devoted to the expert and compassionate care of patients with hereditary thyroid cancer syndromes, particularly those with PTEN/Cowden syndrome. Dr. Milas was the founding director of the Thyroid Center at Cleveland Clinic. She is currently Professor of Surgery and Director of Endocrine Surgery at Oregon Health and Science University (OHSU) and its Knight Cancer Institute that ushered in the era of personalized cancer medicine. Dr. Milas is a national leader in endocrine surgery and clinician-performed thyroid ultrasound. Her clinical and research contributions have helped define the roles of ultrasound screening and thyroid surgery in individuals with Cowden syndrome.
Thomas W. Frazier, PhD is the director of the Cleveland Clinic Center for Autism and an Assistant Professor of Pediatrics in the Cleveland Clinic Lerner College of Medicine. He is considered a national leader in the assessment, diagnosis, and behavioral treatment of individuals with autism spectrum disorder. His primary research interest is studying rare genetic syndromes leading to autism. Together with Dr. Charis Eng, Dr. Frazier co-leads the autism genomics research program at Cleveland Clinic. This program has embarked on a natural history study of individuals with PTEN mutations and autism, with an eye toward uncovering cognitive, brain system, and molecular perturbations experienced by these patients. The eventual goal is to use this information to provide individualized molecular treatments that improve functioning in these individuals.
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.