Of the more than 3,000 variants that have been identified in the NF1 gene, only a handful of specific variants can be correlated to certain NF1 symptoms. In this post, I’ll discuss the major known ...

Neurofibromatosis 1 (NF1) is a rare genetic disorder that affects the nervous system, causing tumours to form on nerves throughout the body. It is also known as Von Recklinghausen disease, named after ...

Alexion to deliver 20 presentations across gMG, NF1 plexiform neurofibromas and neuromyelitis optica spectrum disorder at AAN meeting: Cambridge, UK Saturday, April 11, 2026, 18:0 ...

This genetic condition causes tumors to form on nerves throughout the body, often showing up as skin changes. The right treatment and management approach can help address symptoms and potential ...

NF1 microdeletion syndrome is a common dominant genomic disorder responsible for around 5% of type I neurofibromatosis cases. The majority of cases are caused by mutations arising within the NF1 gene.

The FDA granted fast track designation to PAS-004, a macrocyclic MEK inhibitor, for NF1-associated plexiform neurofibromas ...

CHICAGO -- Selumetinib (Koselugo) significantly improved response rates in adults with neurofibromatosis type 1 (NF1) and symptomatic, inoperable plexiform neurofibromas, the phase III KOMET trial ...

Panelists discuss key findings supporting the use of MEK inhibitors, such as selumetinib, in treating NF1-associated plexiform neurofibromas, emphasizing its impact on clinical decision-making, ...

Nearly 20% of children with NF1 develop pLGGs along the optic pathway, also known as NF1-associated optic pathway glioma (NF1-OPG). Despite many advances in cancer therapy, there are no definitive ...

Fast Track designation is one of the FDA’s expedited programs meant to facilitate development and expedite review of new ...

Excluding NF1-specific cancers, the SMR in the study by Uusitalo et a 16 l was 2.25 overall, 2.01 for men, and 2.48 for women. The increased SMR in women is driven, in part, by the 5.2-fold SMR for ...