KEYNOTE SPEAKERS
Dear Delegates,
It's my privilege to extend a very warm welcome to the following Keynote Speakers to Ireland and especially to the 13th European Neurofibromatosis Meeting in Killarney. We are extremely fortunate to have such a prominent line up of Health Professionals address the conference. I am confident we will all leave the meeting with a better understanding of scientific developments and advances in the treatment of Neurofibromatosis.
I look forward to extending a "céad míle fáilte" a real Irish welcome to everyone in Killarney.
Paddy Griffin
CEO
Neurofibromatosis Association of Ireland
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Professor Luis Parada Luis F. Parada grew up in Bogota, Colombia. He obtained a BS from the University of Wisconsin and a Ph.D. in Biology from MIT in 1985 identifying oncogenes in human cancer. He was a Damon Runyon and later Helen Hay Whitney Postdoctoral Fellow at the Pasteur Institute. From 1988 to 1994, he headed the Molecular Embryology Section at the NCI in Frederick, Maryland. His work there centered on the identification and characterization of Trk receptor tyrosine kinases as physiological neurotrophin receptors. In 1994 Dr. Parada moved to the University of Texas Southwestern Medical Center at Dallas as inaugurating Director of the Center for Developmental Biology. During his time in Dallas, Dr. Parada has continued his studies of nerve cell survival and regeneration and has renewed his attention on cancer with emphasis on the nervous system. His laboratory uses mouse models to study Neurofibromatosis, cancers of the nervous system, neural development and spinal cord injury. Dr. Parada is Chairman of the Department of Developmental Biology and holds the Diana and Richard C. Strauss Distinguished Chair in Developmental Biology, is Director of the Kent Waldrep Foundation Center for Basic Neuroscience Research, is an American Cancer Society Professor and a Fellow of the American Academy of Arts and Sciences. |
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Professor Eric Legius I'm a clinical geneticist working at the university hospital of Leuven in Belgium and responsible for the outpatient NF clinic. I'm also a professor in Human Genetics at the Catholic University of Leuven. My research is focussed on the molecular pathogenesis of the different features in neurofibromatosis type 1 and on a new NF1-like syndrome caused by mutations in the SPRED1 gene. |
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Professor Gareth Evans My major project has been concerned with type 2 neurofibromatosis or NF2. I have undertaken a national clinical and genetic study of NF2, which has so far ascertained over 738 patients of whom 600 are still alive. I have seen 288 of these at their homes or in hospital clinics and conducted a thorough history and clinical examination. I have viewed all available hospital notes and taken samples for DNA and chromosome analysis. This work has been published as an MD thesis. Current work includes cancer risk analysis including breast cancer in NF1. Osteoporosis and spinal abnormalities in NF1. Mosaicism in NF2. Offspring risks in NF2. Molecular changes in vestibular schwannomas. Identifying the gene/locus that causes schwannomatosis. |
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Professor Bruce Korf Dr. Korf is Wayne H. and Sara Crews Finley Professor of Medical Genetics and Chair, Department of Genetics. Dr. Korf is past president of the Association of Professors of Human and Medical Genetics, serves as a member of the Board of Scientific Counselors of the National Cancer Institute, and is president-elect of the American College of Medical Genetics. His major research interests are molecular diagnosis of genetic disorders and the natural history and treatment of neurofibromatosis. He has research grants from the NIH and from the Department of Defense to study genotype-phenotype correlations in NF1 and the natural history of plexiform neurofibromas in NF1. The latter study has led to the development of an approach to measurement of rate of change of plexiform neurofibromas, now serving as a major endpoint in clinical trials of potential medical treatment of these lesions. |
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Prof. Meena Upadhyaya Professor Meena Upadhyaya has a Personal Chair in medical genetics at the Institute of Medical Genetics, College of Medicine, Cardiff University and is also a Consultant Molecular Geneticist at the University Hospital of Wales and heads NHS Research and Development Group in Cardiff. She was awarded a Fellowship of theRoyal College of Pathologists (FRCPath) in 2000. Professor Upadhyaya has been involved in research projects in various genetic disorders, including Neurofibromatosis type 1, Facioscapulohumeral musculardystrophy, Charcot-Marie-Tooth syndrome and Hunter's syndrome. Her major current interest is the somatic and germline mutational and functional analysis of the NF1 gene, definition of molecular basis of NF1 tumorigenesis and an investigation of the genotype-phenotype relationship of this disorder. |
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Professor Juha Peltonen I am a professor at the Institute of Biomedicine, Department of Anatomy, University Turku, Finland. My interest to neurofibromatosis dates back to 1979 when initiating studies on neurofibromatosis. Short CV includes MD degree (1981), PhD thesis on "Connective tissue in von Recklinghausen's disease" (1985), both at the University of Turku, Finland; NNFF Young Investigator Award 1987-1989, the studies being carried out at the Thomas Jefferson University; Department of Dermatology, Philadelphia, PA, USA; AssociateProfessors 1989-1990 at the same University. Since 1990 working at the Universities of Oulu and Turku, Finland; since 2005 operative in my present affiliation. My research is focused on composition & development of neurofibromas and skeletal manifestations of NF1 with an emphasis on craniofacial alterations of the disease, and the end result of haploinsufficiency in NF1-deficient cells. |
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Dr. Alcino Silva Dr. Alcino Silva received his bachelor's degree from Cook College at Rutgers University and his Ph.D. in human genetics from the University of Utah. He underwent his post-doctoral fellowship in Dr. Susumu Tonegawa's laboratory at Massachusetts Institute of Technology. Dr. Silva joined UCLA faculty in 1998 and is currently Professor of Neurobiology, Psychiatry & Biobehavioral Sciences, and Psychology. His laboratory is studying the biology of learning and memory with a focus on hippocampal/prefrontal memory mechanisms. His laboratory is also unraveling mechanisms and developing treatments for learning and memory disorders, such as those associated with Neurofibromatosis type I, Tuberous Sclerosis and Schizophrenia. Dr. Alcino Silva is the founder of the molecular and cellular cognition field and the first president of the Molecular and Cellular Cognition Society. He currently heads the Learning Disabilities Network, the Center for Genetic Studies of Cortical Plasticity, as well as the Plasticity and Learning branch of the Brain Research Institute at UCLA. |
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Professor David Gutmann David H. Gutmann obtained his MD and PhD degrees from The University of Michigan where he studied the genetic basis for immune responsiveness in the laboratory of Dr. John E. Niederhuber. He completed his neurology residency training at the University of Pennsylvania before joining the laboratory of Dr. Francis S. Collins to identify and characterize the neurofibromatosis-1 (NF1) gene. In 1993, Dr. Gutmann was recruited to Washington University, becoming the Donald O. Schnuck Family Endowed Professor in 2001. Dr. Gutmann established the NF Clinical Program at St. Louis Children's Hospital in 1994 and the Washington University NF Center of Excellence in 2004. He also serves as the co-director of the Neuro-Oncology Program in the Washington University/Alvin J. Siteman Cancer Center. Dr. Gutmann's research laboratory is focused on understanding the key signals that control normal neural stem cell (NSC) and glial cell growth and differentiation in vitro and in vivo. To this end, his team studies the genes mutated in the two cancer predisposition syndromes, neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2), in which affected individuals develop brain tumors. They have generated numerous genetically-engineered mouse models to explore the relationship between developmental neurobiology (normal growth regulation in the brain) and neuro-oncology (brain tumor formation). In addition, Dr. Gutmann and his colleagues have used these mouse models to identify and evaluate novel treatments for NF-associated tumors. |
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Dr. Susan Huson Dr. Huson is a Consultant Clinical Geneticist at the Regional Genetic Service in Manchester where she coordinates the neurofibromatosis clinic. She has worked on neurofibromatosis since 1983 when she was a reserach fellow with Profs. Peter Harper and Alastair Compston at the University of Wales College of Medicine, Cardiff. Her work contibuted to the mapping of the NF1 gene to chromosome 17. She also did one of the few population based studies of Nf1 in South Wales. The University of Edinburgh awarded her the degree of MD with distinction and gold medal for this work. As a Consultant, first in Oxford and now in Manchester, she has worked on the clinical delineation of the different forms of neurofibromatosis and models of disease management. In 1994, she was co-editor, with Prof Richard Hughes, of the boon "The neurofibromatoses-a clinical and pathogenetic overview". |
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Dr. Rosalie Ferner I am a clinical neurologist and the lead clinician for the multidisciplinary neurofibromatosis service at Guy's and St. Thomas' Hospitals, London. The unit comprises 20 senior clinicians and a specialist nurse and we see 500 patients per year including individuals with NF1, NF2 and Schwannomatosis. My doctoral thesis was on cognitive impairment and neuroimaging in NF1. My clinical interest is on the diagnosis and management of patients with NF1 and malignancy of the central and peripheral nervous system. The major research focus of our unit is in the diagnosis of malignant peripheral nerve sheath tumours using positron emission tomography. |
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Professor Ludwine Messiaen I am an ABMG board certified clinical molecular geneticist directing the Medical Genomics Laboratory at the University of Alabama at Birmingham (UAB). I am also a professor in human genetics at the Department of Genetics at UAB. In 1984, I obtained my MS in Biology and in 1990 my PhD in molecular and cancer genetics, both at the University Ghent, Belgium. I developed a comprehensive genetic test for the NF1 gene and have been involved in research projects on Neurofibromatosis type 1 since 1991. My research is focused on the unbiased characterization of the NF1 germline and somatic mutation spectrum, the molecular delineation of the variant forms of NF1 (spinal NF, segmental NF, (familial) CAL-spots) and the search for genotype-phenotype correlations. |
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Dr. Anat Stemmer-Rachamimov, Dr. Stemmer-Rachamimov is a neuropathologist in Massachusetts General Hospital and an associate professor in Harvard Medical School. Her major research and clinical interest is in NF associated lesions, in particular, in nerve sheath tumors. She is interested in the underlying molecular changes in lesions and malformations associated with these syndromes, and her research focuses on identification of markers associated with particular diseases or with tumor progression. This unique interface of clinical (pathology) and molecular expertise in the NF field has enabled her to contribute to the characterization of these syndromes and their associated lesions; for example, to the formulation of the criteria for diagnosis of schwannomatosis based on clinical and pathological features. In addition, Dr. Stemmer-Rachamimov has been interested in comparative analysis of lesions in mouse models of NF and in setting criteria for their classification and interpretation. |
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Professor David Viskochil David H. Viskochil, MD, PhD, is a clinical geneticist and professor of pediatrics who is co-director of the Neurofibromatosis Clinic at the University of Utah. Dr Viskochil received his bachelor's degree in biology from the University of Arizona and his doctorate in biochemistry and medical degree from the University of North Carolina. He completed his residency and clinical genetics fellowship at the University of Utah. Dr Viskochil's research focuses on NF1-related issues, specifically in the molecular genetics of NF1 tumors and bone health in NF1. He was the recipient of a Young Investigator Award from the National Neurofibromatosis Foundation (NNFF) in 1988. |
| Other Keynote Speakers Include: |
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Professor Marco Giovannini Fondation Jean Dausset - CEPH, Laboratoire de Genetique des Tumeurs Paris, France |
