NF1: Scientific Insight and Systemic Change | Cold Spring Harbor Laboratory

Mom talk: Living beyond the fear of a genetic condition

Last year, I sat down with my friend to watch our sons play football. She confided in me that she was concerned about her son continuing to play because he’d been showing symptoms that raised a red flag: slow growth, frequent injuries, and other issues that didn’t add up for an otherwise healthy 15-year-old. My friend said that she was beginning to suspect a rare disease might be at play, possibly something genetic. She shared that she knew ther…

NF1: Scientific insight and systemic change | Cold Spring Harbor Laboratory

Neurofibromatosis type 1 (NF1) is a rare genetic condition that affects approximately 100,000 Americans. Children diagnosed with the disorder often have motor delays and learning disabilities. Many are also diagnosed with autism or brain tumors. While significant progress has been made in understanding the biology of NF1 in animal models, translating these findings into clinical outcomes that improve children’s quality of life remains a challeng…