neurofibromatosis

NIH Mourns the Passing of Dilys Parry

Dr. Dilys Parry

Dr. Dilys Parry died peacefully in her sleep in the early morning of February 2, 2024, after a long illness. For 30 years, Dr. Parry was a staff clinician and principal investigator in the Division of Cancer Epidemiology and Genetics (DCEG) at NIH's National Cancer Institute (NCI). Following her retirement from federal service in 2007 she continued to engage with her colleagues on projects as a special volunteer. 

Dr. Parry’s medical genetics research focused primarily on genetic and clinical studies of neurofibromatosis 2 (NF2) and chordoma, a rare bone tumor derived from the notochord, and adult brain tumors. She was deeply committed to educating patients about the natural history of these diseases and helping them and at-risk relatives receive genetic testing or other types of screening to aid in early detection and treatment. Her research helped to identify susceptibility genes for and delineate the spectrum of clinical manifestations associated with NF2 and chordoma. She also elucidated correlations between the specific types of variants in the gene NF2 and clinical findings. Much of the momentum that exists in chordoma research traces back to Dr. Parry’s early interest in the disease.

Breakthrough Treatment Brings Hope to Children with Tumor Disorder

Brigitte Widemann Recognized for Pioneering Work on Debilitating Disease

Dr. Brigitte C. Widemann

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.

Need for Speed

Reblog via The Children's Inn at NIH: Family Stories.

Travis Carpenter NF1

From Travis’ appearance and attitude, you’d never believe that, inside his body, many things are wrong. His legs are different lengths, his bones are prone to breaking, and he has a long, “deep” tumor running from his lower spine down across his hip to below his knee. He also has lower back pain from constant irritation to the nerves in his spine.

Meet Children's Inn Resident Connor O’Brien

Reblog via The Children's Inn at NIH: Family Stories.

Connor, Childrens Inn at NIH

In the words of Connor: “A lot of times treatment for cancer and chronic diseases is very difficult to sustain. A lot of times it hurts. A lot of times you have to be given anesthesia, invasive things like that. The Inn gives you somewhere to come home to, somewhere to end your day, a place where you can have closure. Thank you all for making sure we have The Inn to come home to.”