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The purpose of this timeline research project is to provide an outline of the discovery of Neurofibromatosis 1 to identify gaps in knowledge. Frederick von Recklinghausen is credited with the disease’s classification in 1882 when he observed two different cases of patients with neurofibromas. Current research of the disease involves its characterization at a molecular and genetic level. The symptoms of the disease include non-cancerous tumors in the nervous system (neurofibromas) and optic nerves (optic nerve gliomas), as well as cafe-au-lait spots around the axillary and groin areas. It tends to occur in 1 out of 3,000 births globally without distinction between sexes and racial groups, but the frequency and severity of certain symptoms vary across different races. In the past, curative treatments for neurofibromatosis 1 were unavailable, but palliative care has been provided through chemotherapy, radiation treatments, and surgical procedures to remove tumors. However, in April 2020, a new treatment called Koseulgo (selumetinib) that stops the growth of tumors by blocking key enzymes was approved by the FDA and is one of the first curative treatments developed. The disease also seems to have other impacts on social and emotional wellbeing on patients and their families. Therefore, support services that can help patients and their families develop appropriate coping skills, and the further development of palliative care to ease the severity of symptoms, may prove to be beneficial. In conclusion, this timeline of Neurofibromatosis 1’s discovery helps provide context for its characterization and contributes to the ongoing research.
Neurofibromatosis 1; Social impact; Clinical discovery; Treatment
Garcia, Betsua and Khachatryan, Arsen, "Neurofibromatosis 1: Discovery, Treatment and Social Impact" (2021). Undergraduate Research Symposium Posters. 9.