Neurofibromatosis

Neurofibromatosis is a genetic condition in which tumors form on the nerves of the inner ear and cause loss of hearing and balance. Tumors may also occur in the brain and on nerves in the skull and spinal cord, and may cause loss of speech, eye movement, and the ability to swallow. Also called acoustic neurofibromatosis and NF2.

Neurofibromatosis Type 1 Symptoms and Features

The symptoms of neurofibromatosis vary widely between individuals, with some people only experiencing mild health problems and others finding they are severely affected on a day-to-day basis.

What is Neurofibromatosis?

Neurofibromatosis Type 1 Treatment

Neurofibromatosis Type 1 Causes and Diagnosis

Neurofibromatosis Type 2

Neurofibromatosis Type 2 Causes and Diagnosis

Neurofibromatosis Type 2 Symptoms

Neurofibromatosis Type 2 Management

Von Recklinghausen Disease (Neurofibromatosis Type I)

Latest Neurofibromatosis News and Research

Epilepsy drug prevents brain tumor formation and growth in mouse models of NF1

A drug used to treat children with epilepsy prevents brain tumor formation and growth in two mouse models of neurofibromatosis type 1 (NF1), according to a study by researchers at Washington University School of Medicine in St. Louis.

15 Apr 2024

Vosoritide's first phase 2 study shows increased growth in children with hypochondroplasia

Vosoritide's first global phase 2 study showed an average increased growth rate of 1.8 cm per year in children with hypochondroplasia, a genetic cause of short stature in children, according to researchers from Children's National Hospital.

13 Apr 2024

Certain progestogens linked to higher brain tumor risk in women, study suggests

Study finds long-term use of specific progestogens increases the risk of benign brain tumors in women, while short-term use and other progestogens do not.

3 Apr 2024

Researchers identify increased brain tumor risk with specific contraceptive use

The intracranial meningioma risk associated with progestogen use.

28 Mar 2024

Combination drug treatment could be effective against malignant peripheral nerve sheath tumors

A combination of two cancer drugs could be effective against malignant peripheral nerve sheath tumors (MPNSTs) -; soft tissue tumors that are stubbornly resistant to chemotherapy and radiation -; according to a laboratory study led by researchers at the Johns Hopkins Kimmel Cancer Center.

31 Jan 2024

Does tinnitus cause hearing loss in normal hearing individuals?

Whether cochlear neural degeneration occurs in normal-hearing individuals with tinnitus.

4 Dec 2023

New drug combination may improve treatment for rare nerve sheath tumors

Combining a pair of experimental drugs may help treat malignant peripheral nerve sheath tumors with fewer harmful side effects, according to preliminary animal studies led by investigators at the Johns Hopkins Kimmel Cancer Center and Johns Hopkins Drug Discovery.

1 Dec 2023

The value of whole-exome sequencing as a first-tier genetic test in the diagnosis of skin disorders

The genetic etiology by whole-exome sequencing (WES).

23 Aug 2023

Exploring developmental pathways and disease interactions in nervous and stomatognathic systems

Scientists discuss the intricate relationship between the nervous and stomatognathic systems.

21 Aug 2023

Renowned innovator in robotic surgery named as new chair of the Department of Otolaryngology—Head and Neck Surgery at NYU Langone

Umamaheswar Duvvuri, MD, PhD, a renowned researcher and innovator in advanced, minimally invasive robotic surgery of the head and neck, has been named the Mendik Foundation Professor of Otolaryngology and the new chair of the Department of Otolaryngology—Head and Neck Surgery at NYU Grossman School of Medicine, effective July 1.

29 Jun 2023

World's largest gathering of NF community convenes in Arizona to advance research and care

From June 21 through June 27, the largest gathering of NF researchers, clinicians, and patients in the world will take place at the Fairmont Scottsdale Princess in Scottsdale, Arizona.

22 Jun 2023

AI algorithms for rare disease diagnosis ignore the genetic, morphological diversity of humans

Up to 40% of rare diseases show facial alterations that enable researchers to identify some pathologies and they can even help them to establish an early diagnosis.

10 May 2023

Study shows effectiveness, safety of stereotactic radiosurgery for NF2-related vestibular schwannomas

Vestibular schwannomas related to neurofibromatosis type 2 (NF2) are difficult to manage and are sometimes treated with a noninvasive option, stereotactic radiosurgery.

18 Apr 2023

Unexpected discovery may lead to improved treatments for YAP fusion-driven cancers

An unexpected discovery made by experts at the Brain Tumor Center at Cincinnati Children's while studying a rare-but-deadly type of brain tumor may also lead to improved treatments for several other forms of cancer that share a common influencing factor called a YAP fusion protein.

2 Feb 2023

Distinct genomic patterns of malignant peripheral nerve sheath tumors may help with early diagnosis

Neurofibromatosis type 1 (NF1) is a common genetic condition, affecting 1 in 3000 individuals, and people with NF1 are at greater risk of developing a rare, aggressive form of cancer.

4 Jan 2023

Study to determine if a DNA-based blood test can help detect cancer predisposition in NF1 patients

The Children’s Tumor Foundation (CTF) has announced a groundbreaking 3-year study, which it will fund for nearly $2 million, to determine if a DNA-based blood test can offer better understanding and ultimately earlier diagnosis of cancer predisposition in neurofibromatosis type 1 (NF1) patients.

16 Dec 2022

New study to investigate focused ultrasound's role in addressing neurofibromatosis type 2

The Focused Ultrasound Foundation and the Children's Tumor Foundation (CTF) have established a partnership to advance innovative, noninvasive treatments in pediatrics.

21 Jul 2022

Parents become drug developers to save their children’s lives

Maggie Carmichael wasn't developing like other kids. As a toddler, she wasn't walking and had a limited vocabulary for her age.

21 Jul 2022

Epilepsy drug inhibits the growth of NF1 tumors in mice

People with neurofibromatosis type 1 (NF1) develop tumors on nerves throughout their bodies. These tumors are usually benign -; meaning they don't spread to other parts of the body and are not considered life-threatening -; but they can still cause serious medical problems such as blindness, especially when they form in the brain and nerves.

19 May 2022

Children’s National performs first-ever HIFU surgery on a pediatric patient with neurofibromatosis

Children's National Hospital successfully performed the first-ever high-intensity focused ultrasound (HIFU) surgery on a pediatric patient with neurofibromatosis (NF).

9 Feb 2022

Neurofibromatosis

Overview

What is Neurofibromatosis?

Neurofibromatosis Type 1 Treatment

Neurofibromatosis Type 1 Causes and Diagnosis

Feature Articles

Neurofibromatosis Type 2

Neurofibromatosis Type 2 Causes and Diagnosis

Neurofibromatosis Type 2 Symptoms

Neurofibromatosis Type 2 Management

Von Recklinghausen Disease (Neurofibromatosis Type I)

Latest Neurofibromatosis News and Research

Epilepsy drug prevents brain tumor formation and growth in mouse models of NF1

Vosoritide's first phase 2 study shows increased growth in children with hypochondroplasia

Certain progestogens linked to higher brain tumor risk in women, study suggests

Researchers identify increased brain tumor risk with specific contraceptive use

Combination drug treatment could be effective against malignant peripheral nerve sheath tumors

Does tinnitus cause hearing loss in normal hearing individuals?

New drug combination may improve treatment for rare nerve sheath tumors

The value of whole-exome sequencing as a first-tier genetic test in the diagnosis of skin disorders

Exploring developmental pathways and disease interactions in nervous and stomatognathic systems

Renowned innovator in robotic surgery named as new chair of the Department of Otolaryngology—Head and Neck Surgery at NYU Langone

World's largest gathering of NF community convenes in Arizona to advance research and care

AI algorithms for rare disease diagnosis ignore the genetic, morphological diversity of humans

Study shows effectiveness, safety of stereotactic radiosurgery for NF2-related vestibular schwannomas

Unexpected discovery may lead to improved treatments for YAP fusion-driven cancers

Distinct genomic patterns of malignant peripheral nerve sheath tumors may help with early diagnosis

Study to determine if a DNA-based blood test can help detect cancer predisposition in NF1 patients

New study to investigate focused ultrasound's role in addressing neurofibromatosis type 2

Parents become drug developers to save their children’s lives

Epilepsy drug inhibits the growth of NF1 tumors in mice

Children’s National performs first-ever HIFU surgery on a pediatric patient with neurofibromatosis

Neuroscience - Second Edition eBook

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

From Puberty to Menopause: Clue’s CEO, Audrey Tsang on the Power of Femtech

Neurofibromatosis

Overview

Feature Articles

Neurofibromatosis Type 2

Neurofibromatosis Type 2 Causes and Diagnosis

Neurofibromatosis Type 2 Symptoms

Neurofibromatosis Type 2 Management

Von Recklinghausen Disease (Neurofibromatosis Type I)

Latest Neurofibromatosis News and Research

Neuroscience - Second Edition eBook

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

From Puberty to Menopause: Clue’s CEO, Audrey Tsang on the Power of Femtech

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