Articles tagged with Neurofibromatosis
Researchers have identified a widespread source of error in a popular genome study method and created a machine-learning tool to correct it. PATTY uses machine learning to reduce artifacts while preserving real signals in noisy data, giving researchers a clearer view of gene activity control.
Researchers develop cellular model to reproduce NF1-associated tumour progression, identifying new therapeutic opportunities. The combination of olaparib and selumetinib shows promise in reducing tumour growth.
A rare diagnosis of a giant solitary neurofibroma in a 13-year-old boy was successfully treated with microsurgery. The tumor's location deep within the thigh along the sciatic nerve made it challenging to diagnose and treat, but careful surgical technique and postoperative care ensured optimal outcomes.
Researchers identify bone-forming cells as driver of scoliosis caused by NF1. Blocking RAS-MAPK signaling pathway with medications halts progression of spinal deformity in genetically engineered mouse model.
Researchers at U. Iowa identify a specific metabolic pathway that fuels tumor growth in MPNST, providing a promising new target for treatment. By blocking this pathway, tumors grow more slowly and are more vulnerable to chemotherapy.
Researchers developed a potential strategy to treat neurobehavioral challenges in NF1, a genetic disease affecting the skin and nervous system. The findings may also apply to hundreds of other rare genetic diseases, including autism spectrum disorder and ADHD.
A phase 3 trial demonstrated the efficacy of selumetinib in reducing tumor size and alleviating pain in adults with neurofibromatosis type 1. The treatment was found to be effective in patients who received it from day one, as well as those who started it later, with significant reductions in tumor size and pain reported.
The 2025 NF Conference brings together researchers, patients, and advocates to discuss progress and future prospects in NF treatment and discovery. The event features keynotes on gene therapy, regulatory reform, and next-generation pain treatments.
Researchers found genetic changes not exclusive to tumours and skin patches, suggesting additional factors are necessary for tumour development. The study identified a pattern of mutations in the NF1 gene that may explain why nervous system tissues are commonly affected.
Scientists are conducting a clinical trial to explore the use of anti-retroviral medications Ritonavir and Lopinavir as a potential treatment for brain tumors in patients with Neurofibromatosis 2. The study aims to determine if these drugs can help reduce tumor growth and survival in NF2 patients.
The Gilbert Family Foundation has invested $21 million in grants to launch the Next-Generation NF1 Models Initiative, a research program focused on developing advanced models of the NF1 disease. The initiative aims to accelerate the discovery of treatments that address both symptoms and underlying causes of neurofibromatosis.
A study by researchers at Washington University School of Medicine has found that a drug used to treat epilepsy can prevent brain tumor formation and growth in mice with neurofibromatosis type 1 (NF1). The drug, lamotrigine, was shown to be effective at lower doses than those used for epilepsy, and its effects were lasting. The finding...
Researchers have developed a new approach to treating cutaneous neurofibromas, a common skin tumor associated with neurofibromatosis type 1. By targeting the cAMP and Ras/MAPK pathways, this combination therapy may provide an enduring halt in the expansion of these tumors.
A new genomic catalogue of malignant peripheral nerve tumour-derived lines has challenged current diagnostic criteria, revealing misdiagnosed cell lines and a shared cell line masquerading as different types. The catalogue provides new information to develop precision therapies for these tumours.
Researchers identified two broad categories of MPNSTs based on their molecular makeup, one of which has a higher number of immune cells and tends to be more survivable. This discovery may lead to new treatment approaches for NF1 patients with MPNSTs, including immunotherapy and genetic testing.
Researchers have discovered two novel drugs that can block the growth and shrink the size of schwannoma tumors, a type of nerve sheath tumor found in the nervous system. The treatment works by inhibiting the Hippo signaling pathway, which is dysregulated in multiple types of cancer.
A study by Cincinnati Children's Hospital Medical Center has identified two genes, ZEB1 and ALDH1A1, as critical in producing malignant cells in MPNST. The research found that disrupting these genes can slow tumor growth and reduce proliferation in mice, suggesting potential new treatments for the disease.
Researchers discovered that neurons carrying a mutation in the Nf1 gene are hyperexcitable and suppressing this hyperactivity with lamotrigine stops tumor growth in mice. The study provides an explanation for why some people with NF1 lack optic gliomas or neurofibromas, highlighting the critical role of neurons in tumor biology.
Researchers developed a blood test to detect cancer early in people with NF1, a genetic disorder that affects 1 in 3,000 people worldwide. The test differentiates between benign and aggressive tumors with high accuracy and could help monitor treatment responses.
The Children's Tumor Foundation has announced revised diagnostic criteria for neurofibromatosis type 1 (NF1), which aim to improve the accuracy and earlier diagnosis of the condition. The updated criteria also cover Legius syndrome and mosaic NF, with further updates expected for NF2 and schwannomatosis.
Scientists at Cincinnati Children's Hospital Medical Center have discovered how a rare nerve tumor works and found a potential new way to fight it. The study identifies a key protein called Merlin and its connections to other proteins in the brain, which may lead to a breakthrough in treatment.
Researchers studied genetically modified mice with neurofibromatosis type 1 (NF1), a condition associated with sleep problems. The mice exhibited fragmented and irregular sleep patterns, similar to people with NF1. This study could help identify molecular mechanisms underlying sleep disturbances in humans.
A new study by Ludwine Messiaen extends clinical manifestations of the three-base pair deletion p.Met992del in NF1, revealing mild symptoms but potential complications. The research expands on findings first reported in 2007, providing insight into a genotype-phenotype correlation that will aid families and clinicians.
Research identifies missense mutations in NF1 gene as risk factor for severe neurofibromatosis symptoms. Patients with these mutations show high incidence of benign tumors and malignancies.
The Children's Tumor Foundation and PLOS ONE are collaborating on a new funding program in neurofibromatosis (NF) research, integrating the Registered Reports model to enhance rigor, reproducibility, and transparency. The partnership aims to accelerate transparent science and eliminate publication bias.
Researchers from Loyola University Medical Center identified 60 genetic diseases that involve the skin, central nervous system, and/or peripheral nervous system. These conditions, including neurofibromatosis, can cause a range of symptoms such as tumors, learning disabilities, and bone deformities.
Researchers at IDIBELL have created new mouse models for studying neurofibromatosis type 1, a rare genetic disorder. The models, which reproduce human tumor characteristics, enable the prediction of tumor development and treatment decisions.
Johns Hopkins researchers reveal how Merlin, a protein involved in tumor suppression, acts as a 'matchmaker' to control tissue growth. By arranging interactions between proteins, Merlin helps prevent cancerous tumors from forming.
Three independent studies demonstrate that hyperactivation of MAPK signaling pathways underlies NF1-associated disorders. Researchers found that inhibiting MEK and ERK can block the development of JMML, reduce the growth of peripheral nerve tumors, and ameliorate myeloproliferative disorders in NF1 mutant mice.
Researchers found glycolipids play a crucial role in controlling cell growth, with defects linked to neurofibromatosis and certain cancers. The study sheds light on the disease's mechanisms and potential drug development.
Children's National study finds lovastatin improves verbal and nonverbal memory, visual attention, and efficiency in children with neurofibromatosis type 1. The Phase I study suggests a potential therapeutic agent for treating cognitive deficits in NF1 patients.
Researchers from Indiana University School of Medicine found a genetic link between neurofibromatosis type 1 disease and cardiovascular disease in children. The study suggests that treatments targeting inflammation may be effective in preventing sudden death from cardiovascular disease.
Researchers analyzed patients with a syndrome similar to NF1 and found that diagnosis may be difficult due to shared clinical findings. The study highlights the importance of molecular genetic testing to resolve diagnoses in cases of uncertainty.
A study found that mast cells stimulate tumor growth in neurofibromatosis type 1 by recruiting other cell types and blood vessels to the tumor. A drug called Gleevec, already prescribed for cancer, curbs tumor growth in a mouse model of the disease.
Researchers at Washington University School of Medicine discovered a gene's effect on height that may change tumor disorder treatment for patients with neurofibromatosis type 1. The study found that the NF1 gene affects stature through a different pathway than previously focused on for cancer treatment.
Researchers found that the NF1 gene regulates the development of astrocytes and neurons by controlling two signaling pathways. This discovery may lead to separate treatments for the condition's two major symptoms: brain cancers and learning disabilities.
A UAB research team will lead the NF Consortium, a nine-institution group studying neurofibromatosis type 1. The $5.7M grant will focus on clinical trials testing new treatments for adults and children with NF.
Researchers at Barrow will investigate gene defects in NF1 affecting nerve cell function and molecule movement. The grant aims to identify new targets for treating Neurofibromatosis 1, a genetic disorder causing tumors and developmental problems.
A recent study by researchers at Rice University has identified a key role for the protein Ras in promoting nerve cell growth and tumorigenesis in individuals with neurofibromatosis. The study found that defects in the Nf1 gene disrupt the normal regulatory mechanism, leading to an overactive signaling pathway.
Researchers found that restoring Ras-GAP activity through expression of the human NF1 GAP-related domain restored normal cardiac development in mice with Neurofibromatosis type I disease. However, this approach did not fully restore all pathologies associated with neurofibromin loss, indicating a more complex role for the protein.
The study identified two novel proteins, Gpb1 and Gbp2, that regulate the Ras oncogene in humans and yeast. These findings have important medical implications for developing new therapies to prevent neurofibromatosis 1-related cancers.
Researchers discovered that Lovastatin can reverse learning and attention deficits in adult Nf1 mutant mice, suggesting a potential treatment for the disorder. The findings also show that cognitive deficits associated with NF1 are not irreversible developmental deficits.
A new therapeutic target has been identified in the inherited brain tumor disorder neurofibromatosis 1 (NF1). Fumagillin, an established drug, has been found to suppress the activity of MetAP2, which is abnormally high in NF1-associated brain tumors. This discovery may lead to new treatments for patients with NF1.
Researchers found that K-RAS activation is a key factor in the development of tumors in neurofibromatosis 1. The study suggests that targeting K-RAS could lead to more effective treatment options for this genetic disorder.
Researchers at Rice University have received a four-year, $1.1 million grant to develop a fruit fly model for neurofibromatosis and test key proteins as potential drug targets. The team aims to understand how signaling proteins regulate NF tumor growth.
Researchers from University of Pennsylvania School of Medicine have found that the Nf1 gene is essential in endothelial cells, explaining why patients with NF1 are prone to cardiovascular problems. The discovery may lead to new therapeutics for NF1 and provide validation of an animal model for the disease.
Researchers at The Wistar Institute have discovered a link between neurofibromatosis and Alzheimer's disease, with the shared protein kinesin-1 playing a pivotal role in protein trafficking. This finding opens new avenues for investigation into both diseases, providing insights into vital cellular processes.
Researchers discovered a small molecular variation that inactivates the neurofibromin tumor suppressor gene, leading to increased tumor development. The finding suggests a new mechanism by which RNA editing can disable tumor-suppressing genes, potentially contributing to cancer progression.
Researchers discovered that the Nf1 gene serves two major purposes: preventing tumor growth and regulating the body's rest-activity cycle. In its absence, the body is unable to keep time, highlighting a crucial role of Nf1 in maintaining circadian rhythm.
Amita Sehgal and colleagues report a new link between the neurofibromatosis-1 gene and the body's circadian clock, revealing a new facet of the circadian control system. The findings show that the Nf1 protein regulates the cellular switch MAP kinase.