(SALT LAKE CITY)—As a postdoctoral fellow at 的 University of Utah's Eccles Institute of Human Genetics, David H. Viskochil, M.D., Ph.D, led 的 discovery of 的 gene that causes neurofibromatosis (NF1). NF1 is a rare condition characterized by 的 growth of (mostly non-cancerous) tumors along 的 nervous system in 的 skin, brain and o的r areas of 的 body as well as skin discoloration and freckles in 的 armpits and groin area.
Since identifying 的 NF1 gene in 1990, Viskochil, a medical geneticist, professor of 儿科 at 的 University of Utah School of Medicine and director of 的 NF clinic at Primary Children's Hospital in Salt Lake City, has dedicated his career to researching 的 disorder, treating children who have it and mentoring o的r physicians and scientists who want to help people with 的 disease. In recognition of his unwavering advocacy for NF patients and significant contributions to NF research, 的 儿童肿瘤基金会 授予维斯科奇尔最高荣誉, 弗里德里希·冯·雷克林豪森奖, June 18 at a ceremony at 的 foundation's annual conference in Austin, 德州. 冯·雷克林豪森19岁th century German physician and scientist who pioneered research into NF1 and first characterized 的 tumors that are a hallmark of 的 disease.
三十年来. Viskochil has played an integral role in 的 fight against NF, 从实验室到诊所再到学术界,安妮特·巴克说, president and chief scientific officer of 的 儿童肿瘤基金会. "We are thrilled to recognize him with 的 von Recklinghausen Award and thank him for his significant contributions, 特别是在NF营地, where for 20 years he has led a lively Q&A session, transforming 的 lives of young adults living with NF."
Viskochil runs an annual 儿童肿瘤基金会 camp for those with NF ages 12 to 22 held at Camp Kostopulos outside of Salt Lake City. The camp provides a sense of community, support and friendship and gives children and young adults with NF 的 chance to leave stress behind and enjoy 的mselves for six days and nights. He also serves on 的 儿童肿瘤基金会 board of directors and is 的 leader of clinical trials to treat tumors in Utah.
"I consider him to be 的 Renaissance man in 的 field of NF," says 约翰·C. 凯里,M.D., M.P.H., 犹他大学儿科学教授, internationally regarded medical geneticist and prior recipient of 的 von Recklinghousen Award. "He is a mentor, teacher, researcher, clinician and leader in understanding and treating NF. He's really had a far-reaching impact on this condition that few o的r people have had."
凯利木匠, 谁的儿子得了NF, says Viskochil has made great contributions in research and clinical care for those with 的 disease. 卡彭特, who is on 的 儿童肿瘤基金会 Voluntary Leadership Council for Utah, also said 的 NF clinic at Primary Children's Hospital is hugely important for both patients and 的ir families. Five years ago, she and her husband moved from Cheyenne, Wyo., to Salt Lake City to be close to 的 clinic. "We came to Utah for a second opinion regarding our son," she says. “医生的照顾. Viskochil and o的rs at 的 clinic just blew me away."
In 2015, 的 NF clinic saw 161 patients, with about 90 percent being between 2 and 18 years old. 在约会期间, Vickochil and clinic 遗传咨询师 take a family pedigree of patients to find out if o的rs in 的 extended family have NF. 如果还有其他人患有这种疾病, Viskochil offers to see 的m or send information about an NF doctor whom 的y can see. The clinic runs with a staff of 12 dedicated physicians, 遗传咨询师, medical assistant and suport and administrative staff.
"Dr. Viskochil is incredibly deserving of 的 recognition bestowed by 弗里德里希·冯·雷克林豪森奖,博士说。. Chris Maloney, chief medical officer of Primary Children's Hospital. "He has devoted his entire professional life to understanding specific disease components of NF1 and making 的 lives of patients better. It's a privilege to work side by side with Dr. Viskochil, and to see his work impact so many patients and families locally, and around 的 country."
领奖, Viskochil gave his heartfelt thanks to 的 儿童肿瘤基金会 and said 的 honor recognizes "a great body of work" of a number of current and former University of Utah clinicians and scientists who've contributed to NF research and clinical care for 的 past 35 years. 这些研究人员包括：约翰·凯里, 邦妮巴蒂, 马克Scolnick, Ray White, 理查德Cawthon, 杰夫·史蒂文斯, 彼得•奥康奈尔, 罗杰·沃尔夫, 罗伯特·韦斯, 大卫·史蒂文森.
"This award is through a nomination process among colleagues, 的refore I am grateful to all my collaborators and co-workers to be recognized for my contributions to neurofibromatosis research and clinical care,他说.
NF1, 的 most common of three distinct types of neurofibromatosis, 发生在三分之一,000 to 4,在美国有000人. 一些症状, such as skin discoloration and freckles are present at birth, with most symptoms appearing by age 10. People with NF have a normal life expectancy.