There are seventeen medical professionals 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 their introductions. 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.

Stéphane Richard, M.D.

Dr. Richard is Professor and Chairman of the Laboratory of Neuro-Oncology at the École Pratique des Hautes Études in Paris. He earned his M.D. from the Medical School of Angers and completed postgraduate training with Paris, with a Ph.D. in Histology. He was a French national champion discus thrower. He holds board certification in Pathology and obtained degrees in Endocrinology, Reproductive Biology, and Genetics. His primary research interests are morphology and genetics of brain tumors.

Since 1990 he and Dr. François Resche, Professor and Chairman of Neurosurgery in Nantes, a French National Registry of VHL patients, consisting of 480 patients with von Hippel-Lindau disease. He works regularly with more than 200 patients and their families. His efforts have contributed greatly to bringing a new level of attention to VHL throughout the medical community in France.

Through 1994 he worked at the La Salpêtrière hospital, in the Laboratory of Neurohistology, chaired by Dr. Foncin, who is well known for his contribution to the genetics of Alzheimer's disease. He has recently joined the Necker Hospital, where many other physicians of the French Clinical Care Center are based.

Dr. Richard has a special interest in the clinical and genetic epidemiological aspects of VHL. One major tool of genetic epidemiology is genealogy, consulting municipal and parish registers of births, marriages, and deaths in order to identify even distant relatives of patients, and by studying the records of various departments of neurosurgery, ophthalmology, pathology and especially neuropathology, dating back in some instances more than 60 years. In a number of instances Dr. Richard was able to connect so-called "sporadic" cases to previously known VHL families, such as the large "Sancerre" family with 28 affected people, and to identify "founders" more than 100 years back. This work has made it possible to identify large groups of patients who are genetically identical by descent, allowing for more precise research. It has also enabled Dr. Richard to alert the physicians caring for people who are not aware of being at risk, so that they can take appropriate precautions.

He has participated in almost 60 scientific papers and books including "Hemangioblastomas, hemangioblatomatosis and von Hippel-Lindau disease" (Advances and Technical Standards in Neurosurgery (1993) 20:197), "Renal Lesions and pheochromocytoma in von Hippel-Lindau disease" (Advances in Nephrology (1993) 23:1), and "Pheochromocytoma as the first manifestation of von Hippel-Lindau disease" (Surgery (1994) 116:1076). He also published many articles in French such as "Do hemangioblastomas exist outside VHL disease?" (Neurochirugie (1994) 40:145, selected by the 1995 issue of the Year Book of Neuroradiology.

In December 1994 Dr. Richard was awarded the Yvonne Dumonteil Prize by the French National Cancer League (Ligue Nationale contre le Cancer) for his "outstanding contribution to the clinical and epidemiologic genetics of von Hippel-Lindau disease." He a founding member of our affiliate VHL France, and serves on its Medical Advisory Board.

As published in the VHL Family Forum, 3:4, December 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.