Neurofibromatosis 1 News and Research

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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

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

UT Southwestern researchers uncover mechanism linked to balding and hair graying

UT Southwestern Medical Center researchers have identified the cells that directly give rise to hair as well as the mechanism that causes hair to turn gray - findings that could one day help identify possible treatments for balding and hair graying.

9 May 2017

Phase I study of selumetinib drug shows partial response in pediatric neural tumors

In an early-phase clinical trial of a new oral drug, selumetinib, children with the common genetic disorder neurofibromatosis type 1 (NF1) and plexiform neurofibromas, tumors of the peripheral nerves, tolerated selumetinib and, in most cases, responded to it with tumor shrinkage.

29 Dec 2016

Genetic differences between brain cancer cells and normal tissues could offer clues to tumor behavior

Two recently discovered genetic differences between brain cancer cells and normal tissue cells -- an altered gene and a snippet of noncoding genetic material -- could offer clues to tumor behavior and potential new targets for therapy, Johns Hopkins scientists report.

2 Dec 2016

TSRI scientists discover key molecular player in inherited disorder and morphine addiction

In a remarkable "two for one" discovery, scientists from the Florida campus of The Scripps Research Institute have illuminated a key molecular player in the addictive effects of morphine in animal models.

27 Oct 2016

Neurofibromatosis causes benign tumor formation in normal nervous tissue

Although neurofibromatosis (NF) is not commonly discussed, it affects more than 2 million people worldwide.

24 Jun 2016