NIH VideoCast - Demystifying Medicine: Neurofibromatosis Type 1 related Tumors: From Natural History to Precision Therapy

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Demystifying Medicine: Neurofibromatosis Type 1 related Tumors: From Natural History to Precision Therapy

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Air date:	Tuesday, April 26, 2022, 4:00:00 PM Time displayed is Eastern Time, Washington DC Local
Views:	Total views: 361 (150 Live, 211 On-demand)
Category:	Demystifying Medicine
Runtime:	01:55:20
Closed captioning:	Check box to display CC outside of the video Note: You can drag the captioning window around and resize it
Description:	Demystifying Medicine Neurofibromatosis type 1 (NF-1) is a condition characterized by changes in skin pigmentation and the growth of tumors along nerves in the skin, brain, and other parts of the body. NF-1 is one of the most common genetic disorders, caused by mutation or deletion of one copy of the NF-1 gene. More than 100,000 people in the U.S. alone are affected by NF-1. However common this disorder, treatments have been lacking… until recently! Dr. Widemann is chief of the Pediatric Oncology Branch and special advisor to the NCI Director for childhood cancer. Her pioneering research on NF1 resulted in 2020 in the first FDA-approved medical therapy, the MEK inhibitor selumetinib, for children with NF1 and inoperable, symptomatic plexiform neurofibromas. Dr. Shern is a Lasker Clinical Research Scholar in the Pediatric Oncology Branch. He is using next-generation genomic and molecular assays in an attempt to detect and define the somatic lesions that drive tumorigenesis, as well as high-throughput siRNA, small molecule and natural product drug screening to discover precision therapeutics designed to target a tumor's underlying genetic or epigenetic drivers. For more information go to https://demystifyingmedicine.od.nih.gov/

NLM Title:	Demystifying medicine. Neurofibromatosis type 1 related tumors : from natural history to precision therapy / Brigitte Widemann, Jack Shern.
Author:	Widemann, Brigitte. Shern, Jack. National Institutes of Health (U.S.),
Publisher:
Abstract:	(CIT): Demystifying Medicine Neurofibromatosis type 1 (NF-1) is a condition characterized by changes in skin pigmentation and the growth of tumors along nerves in the skin, brain, and other parts of the body. NF-1 is one of the most common genetic disorders, caused by mutation or deletion of one copy of the NF-1 gene. More than 100,000 people in the U.S. alone are affected by NF-1. However common this disorder, treatments have been lacking until recently! Dr. Widemann is chief of the Pediatric Oncology Branch and special advisor to the NCI Director for childhood cancer. Her pioneering research on NF1 resulted in 2020 in the first FDA-approved medical therapy, the MEK inhibitor selumetinib, for children with NF1 and inoperable, symptomatic plexiform neurofibromas. Dr. Shern is a Lasker Clinical Research Scholar in the Pediatric Oncology Branch. He is using next-generation genomic and molecular assays in an attempt to detect and define the somatic lesions that drive tumorigenesis, as well as high-throughput siRNA, small molecule and natural product drug screening to discover precision therapeutics designed to target a tumor"s underlying genetic or epigenetic drivers.
Subjects:	Genes, Neurofibromatosis 1 Neurofibromatosis 1
Publication Types:	Lecture Webcast

NLM Classification:	QZ 380
NLM ID:	9918418884206676
CIT Live ID:	44336
Permanent link:	https://videocast.nih.gov/watch=44336

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