Brigitte Widemann Recognized for Pioneering Work on Debilitating Disease
Wednesday, August 18, 2021
Getting diagnosed with a serious illness as an adult can be devastating, so one can hardly imagine the impact of receiving such news as a child, particularly when the disease has no good treatments. Until recently, this was the case for many children with the potentially severe and frequently disfiguring condition neurofibromatosis type 1 (NF1). However, pioneering research led by IRP senior investigator Brigitte C. Widemann, M.D., led to the first-ever drug approved by the U.S. Food and Drug Administration (FDA) to treat the condition. For this groundbreaking work, Dr. Widemann, her IRP research team, and her collaborators outside NIH were named as finalists for the 2020 Samuel J. Heyman Service to America Medals, also known as the ‘Sammies,’ an award that honors exceptional work by government employees.
Globe-Spanning Collaboration Connected ‘Viking Gene’ to Dementia and ALS
Monday, June 21, 2021
June was an important month in the life of baseball great Lou Gehrig. It was the month he was born and the month he was first picked for the Yankees’ starting lineup. Sadly, it was also the month in 1939 when he was diagnosed with the neurological disease that bears his name — Lou Gehrig’s disease, also known as amyotrophic lateral sclerosis (ALS) — and the month he died of that disease two years later. It is appropriate then that ALS Awareness Day is observed on June 21 as a day of hope for those searching for effective treatments and, ultimately, a cure.
IRP senior investigator Bryan J. Traynor, M.D., Ph.D., a neurologist at the National Institute on Aging (NIA), is one of the people leading that search. Best known for his work unraveling the genetic causes of ALS and frontotemporal dementia (FTD), he led an international consortium of researchers that uncovered a mutation on chromosome 9 that is the most common ‘familial’ cause of both ALS and FTD. In fact, this mutation, which disrupts the function of the C90RF72 gene, is responsible for 40 percent of all familial cases of ALS and FTD in European and North American populations, meaning cases in which a family member also has the disease. The discovery, published in 2011, revolutionized the scientific understanding of neurodegenerative diseases and the relationships between them. It also suggested a potential target for future gene therapies.