Neurofibromatosis News and Research

Latest Neurofibromatosis News and Research

Mice sleeping fitfully help unravel mystery of insomnia

Mice that sleep fitfully could help researchers unravel the mystery of insomnia. Researchers at Washington University School of Medicine in St. Louis studied mice genetically modified to mimic the genetic disease neurofibromatosis type 1, which is associated with sleep problems.

9 Jan 2019

Scientists move one step closer towards treatment for low-grade gliomas with SYNODOS

Treatment for low-grade gliomas in patients living with neurofibromatosis type 1 are now one step closer thanks to recent research discoveries initiated and funded by the Children's Tumor Foundation.

28 Dec 2018

CTF along with NTAP and Sage announce first-ever open data portal for neurofibromatosis

The Children's Tumor Foundation, together with the Neurofibromatosis Therapeutic Acceleration Program and Sage Bionetworks, has announced the first-ever open data portal for scientific research results in the field of neurofibromatosis.

17 Dec 2018

Slow-growing type of glioma may be vulnerable to immunotherapy, suggests study

Immunotherapy has proved effective in treating a number of cancers, but brain tumors have remained stubbornly resistant.

11 Dec 2018

Research shows enlarged genotype-phenotype correlation for three-base pair deletion in NF1

International collaborative research led by Ludwine Messiaen, Ph.D., shows that while a three-base pair, in-frame deletion called p.Met992del in the NF1 gene has a mild phenotype for people with the genetic disorder neurofibromatosis type 1, or NF1, the mutation does cause complications.

18 Sep 2018

BeiGene collaborates with SpringWorks to evaluate new combinational therapy for solid tumors

BeiGene, Ltd., a commercial-stage biopharmaceutical company focused on developing and commercializing innovative molecularly-targeted and immuno-oncology drugs for the treatment of cancer, and SpringWorks Therapeutics, a clinical-stage rare disease and oncology company focused on sourcing and developing innovative treatments for underserved patient populations, announced today that the companies have entered into a global clinical collaboration agreement to evaluate the safety, tolerability and preliminary efficacy of combining BeiGene's investigational RAF dimer inhibitor, lifirafenib and SpringWorks Therapeutics' investigational MEK inhibitor, PD-0325901, in patients with advanced solid tumors.

6 Sep 2018

Researchers find how NF2 gene mutations lead to out-of-control cellular proliferation

A team of Massachusetts General Hospital Cancer Center researchers has determined one way that mutations in a gene involved in a rare, hereditary cancer syndrome lead to out-of-control cellular proliferation.

29 Aug 2018

RDMD raises $3 million in seed funding to accelerate rare disease research, drug development

RDMD, a healthcare technology company dedicated to accelerating research for patients with rare diseases, today announced that it has raised $3 million in seed financing.

20 Aug 2018

EMA grants orphan designation to selumetinib for treatment of neurofibromatosis type 1

AstraZeneca and Merck, known as MSD outside the U.S. and Canada, today announced that the European Medicines Agency (EMA) has granted orphan designation to selumetinib, a MEK 1/2 inhibitor, for the treatment of neurofibromatosis type 1 (NF1).

3 Aug 2018

Auditory brainstem implant helps patients with neurofibromatosis type 2

Patients with rare brain tumors on the auditory nerve now have an option to prevent complete deafness at UC San Diego Health. The device, called an auditory brainstem implant or ABI, fits behind the ear and connects directly to the brainstem.

30 Apr 2018

Researchers show how Spred1 molecule protects HSC homeostasis under diet-induced stress

Researchers at Kanazawa University report in Cell Stem Cell how the Spred1 molecule is involved in hematopoietic stem cell self-renewal. Experiments with mouse models show that under normal conditions, Spred1 acts as a negative regulator, while under diet-induced stress, it protects hematopoietic homeostasis.

28 Apr 2018

FDA-approved drug for chemical abortion shows promise for treatment of vestibular schwannoma

Massachusetts Eye and Ear researchers have shown that mifepristone, a drug currently FDA-approved for chemical abortion, prevents the growth of vestibular schwannoma cells. This sometimes-lethal intracranial tumor typically causes hearing loss and tinnitus

3 Apr 2018

Plymouth researcher receives grant to further investigate causes of hereditary neuro-tumors

The University of Plymouth will be continuing its research into the advancement of neuro-tumor treatments thanks to more than £100,000 from Great Ormond Street Hospital Children's Charity and Sparks, the medical research charity.

5 Mar 2018

Scientists suggest new strategy to inhibit untreatable, deadly nerve sheath tumors

Genomic profiling of mostly untreatable and deadly nerve sheath tumors led scientists to test a possible therapeutic strategy that inhibited tumor growth in lab tests on human tumor cells and mouse models, according to research in the journal Cancer Cell.

13 Feb 2018

Exploring the Future of Breast Cancer Risk Assessment

An interview with Dr Gareth Evans about the future of breast cancer screening and the implementation of single nucleotide polymorphism (SNP) profiling.

1 Feb 2018

UAB study shows missense mutations as key risk factor for severe symptoms of neurofibromatosis type 1

Research led by Ludwine Messiaen, Ph.D., professor of genetics at the University of Alabama at Birmingham, shows that missense mutations in a cluster of just five codons in the NF1 gene are an important risk factor for severe symptoms of the genetic disease neurofibromatosis type 1.

28 Dec 2017

Research identifies new gene fusions and mutations linked to GIST tumors

Researchers at UC San Diego Moores Cancer Center, with colleagues from Memorial Sloan Kettering Cancer Center and Fox Chase Cancer Center, have determined that a specific region of the small bowel, called the duodenal-jejunal flexure or DJF, shows a high frequency of gastrointestinal stromal tumors (GISTs) with mutations of the NF1 gene

18 Aug 2017

Scientists reveal role of cellular prion protein in development of NF2-related tumors

New research published today, 10th July 2017, online in the journal Oncogene could offer hope to the thousands of, mainly young, people affected by the hereditary condition Neurofibromatosis 2 (NF2).

10 Jul 2017

TSRI professor receives $2 million grant to study neurofibromatosis type I

Assistant Professor Seth Tomchik of the Florida campus of The Scripps Research Institute (TSRI) has received $2 million in funding from the National Institutes of Health's National Institute of Neurological Disorders and Stroke.

31 May 2017

Study findings could help identify treatments for balding and hair graying

Researchers at the UT Southwestern Medical Center have discovered the cells that are directly responsible for hair growth and the mechanism that causes gray hair. The study results could help in identifying feasible treatments for balding and hair graying.

9 May 2017

Neurofibromatosis News and Research

Latest Neurofibromatosis News and Research

Mice sleeping fitfully help unravel mystery of insomnia

Scientists move one step closer towards treatment for low-grade gliomas with SYNODOS

CTF along with NTAP and Sage announce first-ever open data portal for neurofibromatosis

Slow-growing type of glioma may be vulnerable to immunotherapy, suggests study

Research shows enlarged genotype-phenotype correlation for three-base pair deletion in NF1

BeiGene collaborates with SpringWorks to evaluate new combinational therapy for solid tumors

Researchers find how NF2 gene mutations lead to out-of-control cellular proliferation

RDMD raises $3 million in seed funding to accelerate rare disease research, drug development

EMA grants orphan designation to selumetinib for treatment of neurofibromatosis type 1

Auditory brainstem implant helps patients with neurofibromatosis type 2

Researchers show how Spred1 molecule protects HSC homeostasis under diet-induced stress

FDA-approved drug for chemical abortion shows promise for treatment of vestibular schwannoma

Plymouth researcher receives grant to further investigate causes of hereditary neuro-tumors

Scientists suggest new strategy to inhibit untreatable, deadly nerve sheath tumors

Exploring the Future of Breast Cancer Risk Assessment

UAB study shows missense mutations as key risk factor for severe symptoms of neurofibromatosis type 1

Research identifies new gene fusions and mutations linked to GIST tumors

Scientists reveal role of cellular prion protein in development of NF2-related tumors

TSRI professor receives $2 million grant to study neurofibromatosis type I

Study findings could help identify treatments for balding and hair graying

Exploring the intersection of biology and proteomics

Unlocking the Secrets of Multiple Sclerosis Progression: Brain-Immune Cell Communication

Passing on Polycystic Ovary Syndrome: Health risks for male offspring of women with PCOS

Neurofibromatosis News and Research

Latest Neurofibromatosis News and Research

Exploring the intersection of biology and proteomics

Unlocking the Secrets of Multiple Sclerosis Progression: Brain-Immune Cell Communication

Passing on Polycystic Ovary Syndrome: Health risks for male offspring of women with PCOS

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