There are thirteen medical professionals on our Medical Advisory Board who may not always be very visible to you as readers, but who are very visible to the members of the Board of Directors. They very generously lend us their expertise as consultants on difficult questions from members, in the writing or reviewing of material for this newsletter, in presenting or helping design presentations for our annual meeting, and in advising us on various aspects of our programming. We continue here the introductions begun in the September issue. We have purposely sought out people with depth and breadth of experience with VHL — people whose formal training has been enriched by working with a number of patients with VHL over a number of years.

Eamonn R. Maher, M.D., M.R.C.P., Cambridge, England

Dr. Maher is University Lecturer in Medical Genetics at Cambridge University and Consultant in Medical Genetics at Addenbrooke’s Hospital, England. A graduate of the University of Manchester, Dr. Maher has a special interest in the clinical and molecular aspects of familial cancer syndromes, particularly von Hippel-Lindau disease. He has a large clinical practice in cancer genetics which serves a population of approximately 2 million people. In addition, Dr. Maher and his colleagues provide a national service for advice on the clinical management and screening, and molecular genetic testing for VHL disease.

He has participated in almost 100 scientific papers and books including "Clinical features and natural history of von Hippel-Lindau disease" (Quarterly J. Med 1990 70:1151-1163) , "Identification of the von Hippel-Lindau disease tumour suppressor gene" (Science 1993 260:1317-1320), and a book A Practical Guide to Human Cancer Genetics (with Dr. S. V. Hodgson, Cambridge University Press). Dr. Maher and his research group were actively involved in mapping and isolating the VHL gene and are continuing to investigate the molecular genetics of VHL disease.

Dr. Maher will be a featured speaker at the Second International Patient/Provider meeting on von Hippel-Lindau in Boston, April 1995.

Virginia V. Michels, M.D., Minnesota

Dr. Virginia Michels has been Professor and Chairman of the Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, since 1990. A graduate of Marquette University, magna cum laude, she received her medical degree from the Medical College of Wisconsin in Milwaukee and completed postgraduate fellowships in Milwaukee and at Baylor College of Medicine.

She serves on the Technical Advisory Committee for Newborn Metabolic Screening of the Minnesota State Health Department, and has served on the medical advisory board of the National Tuberous Sclerosis Association 1987-1992.

Dr. Michels has lectured widely on her area of primary research, inherited cardiovascular disease, including visiting professorships in Okinawa, Japan, and Prague, Czechoslovakia.

Bernd Robert Seizinger, M.D., Ph.D., New Jersey

Dr. Seizinger is the Vice President of the Oncology Drug Discovery Department, and Director of the Department of Molecular Genetics and Cellular Biology at the Bristol-Myers Squibb Pharmaceutical Research Institute, Princeton, New Jersey.

After completing postdoctoral research fellowships in Neuropharmacology at the Max-Planck-Institute in Germany, and in Neurology and Genetics at Harvard Medical School, it was while he was working in the Neurogenetics Laboratory of the Massachusetts General Hospital under Dr. James Gusella that he began investigations into von Hippel-Lindau disease. These and related investigations led to major advances in the genetics of VHL, of Neurofibromatosis, and of acoustic neuroma. He was awarded the Junior Investigator Award of the National Neurofibromatosis Foundation. It was his team, working in collaboration with physicians and researchers throughout the country, and with the generous donation of samples from VHL families, which narrowed the location of the VHL gene to the short arm of chromosome 3.

Dr. Seizinger has published 86 peer-reviewed publications, including "Von Hippel-Lindau disease maps to the region on chromosome 3 associated with renal cell carcinoma" (Nature 1988 332:269-270), "Genetic flanking markers refine diagnostic criteria and provide new insights into the genetics of von Hippel-Lindau disease (Proc Natl Acad Sci USA, 1991 88:2864-2868), and "Germline mutations in the VHL tumor suppressor gene are similar to somatic VHL aberrations in sporadic renal cell carcinoma" (Am J. of Hum Genetics 1994 55:1092-1102)

Edward H. Oldfield, M.D., F.A.C.S., Maryland

After obtaining his medical degree at the University of Kentucky Medical School Dr. Oldfield completed two years of general surgical residency at Vanderbilt University Hospital, and a year as a neurological registrar at the National Hospital for Nervous Disease, Queens Square, London, before entering neurosurgical residency at Vanderbilt University Hospital. After finishing his neurosurgical residency he spent one year in private neurosurgical practice before joining the staff in the Surgical Neurology Branch of the National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health, Bethesda, Maryland. He has been the Chief of the Surgical Neurology Branch, NINDS since 1987.

For the past several years he has supervised the neurosurgical care of patients with von Hippel-Lindau disease at the National Insitutes of Health.

As the head of the Surgical Neurology Branch he has developed laboratory and clinical research programs devoted to increasing the understanding of the biology of central nervous system tumors, including those associated with von Hippel-Lindau disease, pituitary tumors, syringomyelia, spinal arteriovenous malformations, and other forms of cerebral vascular disease. Clinical initiatives have included the introduction of gene therapy for CNS tumors and the use of recombinant immunotoxins for certain types of brain tumors. He has particular experience with the surgical removal of hemangioblastomas from the cerebellum, brain stem, and spinal cord. He introduced the investigation of vascular endothelial growth and permeability factor (VEGPF), previously known as vascular permeability factor (VPF) in central nervous system tumors, including the demonstration of greatly increased production of the VEGPF in hemangioblastomas associated with VHL (J. Clinical Investigation 91:153-159, 1993) The result of that investigation suggested that the basis of the development of these very vascular tumors was linked to the production of excess VEGPF, a growth factor that specifically acts on endothelial cells. More recently he and his colleagues have linked the development of hearing loss in patients with VHL to a rare form of tumor of the inner ear, low grade endolymphatic sac carcinomas, which will be reported in an upcoming publication.

As published in the VHL Family Forum, 3:1, March 1995. For permission to reprint, please contact the VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.