Liquid fat treatment offers hope for rare childhood disease
A liquid fat medicine has shown significant promise in reversing major health complications of rare degenerative disease Ataxia-telangiectasia (A-T).
Aug 6, 2025
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Nervous System Diseases: News and Research on Neurocutaneous Syndromes
MeSH tree: C10.562
Scientists develop new tool to identify NF1 cognitive signs earlier
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 ...
Jul 18, 2025
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Cutting-edge treatment approach addresses neurobehavioral symptoms in neurofibromatosis type 1
A new study led by Indiana University School of Medicine researchers revealed a potential strategy to address neurobehavioral challenges associated with neurofibromatosis type 1, or NF1, a genetic disease that primarily affects ...
Jul 17, 2025
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International study validates efficacy of a drug in adults with neurofibromatosis type 1
An international study has shown that a drug called selumetinib can reduce the pain and size of tumors caused in adults by neurofibromatosis type 1 (NF1), a rare genetic disease for which there is currently no effective pharmacological ...
Jun 25, 2025
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Genetic study challenges understanding of cancer predisposition
Despite what was previously thought, new research has shown that genetic changes alone cannot explain why and where tumors grow in those with the genetic condition neurofibromatosis type 1 (NF-1). Understanding more about ...
Feb 25, 2025
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Triple combination of inhibitors emerges as potential new treatment for aggressive cancer
A multicenter collaboration has identified a potential new treatment for an aggressive sarcoma arising in the nerves. The findings have been published in the journal Clinical Cancer Research.
Jan 28, 2025
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Finding new treatments for genetic tumor-predisposition syndrome
A new report describes a promising approach to studying neurofibromatosis type 1 (NF1), a genetic condition with limited treatment options. The condition causes a number of different cancerous and non-cancerous tumors to ...
Aug 22, 2024
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Researchers aim to prevent seizures in Sturge-Weber syndrome
Port wine stains—capillary malformations on the skin—are the most visible manifestation of Sturge-Weber syndrome. However, up to 60% of babies with birthmarks in high-risk locations (forehead and upper eyelid) also have capillary ...
Jun 27, 2024
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Nf1 gene mutations disrupt brain cell plasticity and motor learning in mice
Neurogenetic disorders, such as neurofibromatosis type 1 (NF1), are diseases caused by a defect in one or more genes, which can sometimes result in cognitive and motor impairments. Better understanding the neural underpinning ...
Some brain tumors may be linked to head injury, mouse study suggests
A study in mice by researchers at the School of Medicine indicates that brain injury can lead to brain tumors in susceptible individuals. For this study, they used mice that model people with neurofibromatosis type 1 (NF1), ...
May 9, 2024
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