BioPontis Alliance for Rare Diseases and VIB announce partnership on rare diseases
(VIB (the Flanders Institute for Biotechnology)) Today, BioPontis Alliance for Rare Diseases, a unique international nonprofit organization, and VIB, an excellence-based Life Science Research Institute in Belgium, announced a strategic partnership in rare diseases. The first program is aimed at developing a treatment for one type of Charcot Marie Tooth disease (CMT), a rare, progressive and invalidating neuropathy. There are no therapies available for CMT patients today, although it affects 1/2,500 worldwide. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - September 2, 2016 Category: Biology Source Type: news
NIH grant will fund new JAX Resource for Research of Peripheral Neuropathy
(Jackson Laboratory) The National Institute of Neurological Disorders and Stroke has made a grant to The Jackson Laboratory to develop mouse models for inherited peripheral neuropathies and neurodegenerative diseases including Charcot-Marie-Tooth disease. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - August 17, 2016 Category: Global & Universal Source Type: news
What Do You Do When a Child Wants to Die?
When 5-year-old Julianna Snow began having trouble breathing, her parents didn't rush her to the hospital.
Instead, they made her comfortable in her princess-themed bedroom and held her until she slipped away.
A promise kept.
It wasn't an unexpected death.
Julianna had Charcot-Marie-Tooth disease (CMT), an incurable neuromuscular disorder. The young girl had expressed her wish to die at home. Her parents and doctors gave her the care she needed while supporting her choice.
"She went after 18 beautiful months [in hospice]. She didn't go after a year of horrible hospitalizations," her mother told CNN.
Vital conversatio...
Source: Healthy Living - The Huffington Post - July 5, 2016 Category: Consumer Health News Source Type: news
NYSCF and CMTA announce largest-ever research resource for neuropathy disorders
(New York Stem Cell Foundation) The New York Stem Cell Foundation (NYSCF) Research Institute and the Charcot-Marie-Tooth Association (CMTA) today announced that the stem cell lines resulting from their pathbreaking collaboration beginning in 2014 will now be available for use by other researchers in the largest and first ever initiative of its kind. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 21, 2016 Category: Global & Universal Source Type: news
Mystery of disease behind Andrew Wyeth's Christina's World is solved
The woman in Andrew Wyeth's famous painting Christina's World, suffered from Charcot-Marie-Tooth disease, which causes movement problems, according to experts from the Mayo clinic, Rochester. (Source: the Mail online | Health)
Source: the Mail online | Health - May 6, 2016 Category: Consumer Health News Source Type: news
Mystery of disease behind one of the world's most famous paintings is solved: Crawling woman in 'Christina's World' has rare nerve condition, expert claimS
The woman in Andrew Wyeth's famous painting Christina's World, suffered from Charcot-Marie-Tooth disease, which causes movement problems, according to experts from the Mayo clinic, Rochester. (Source: the Mail online | Health)
Source: the Mail online | Health - May 6, 2016 Category: Consumer Health News Source Type: news
Pharnext Announces the Opening of the First U.S. Study Site for its PLEO-CMT International Pivotal Phase 3 Trial in Charcot-Marie-Tooth Disease Type 1A
PARIS, April 25, 2016 -- (Healthcare Sales & Marketing Network) -- Pharnext today announced the opening of the first U.S. trial site for its PLEO-CMT pivotal Phase 3 clinical trial of its lead pleodrug PXT3003 in Charcot-Marie-Tooth Disease Type 1A (CMT1A... BiopharmaceuticalsPharnext, PLEO-CMT, Pleotherapy, Charcot-Marie-Tooth (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - April 25, 2016 Category: Pharmaceuticals Source Type: news
Researchers identify new cause of inherited neuropathy
Charcot-Marie-Tooth Disease is a family of inherited disorders of the peripheral nervous system, affecting approximately one in 2,500 Americans. Its most common iteration, CMT1, comes in many forms, most of which have to date been linked to a small set of causative genes. New research recently uncovered a new genetic cause of CMT1. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - March 23, 2016 Category: Science Source Type: news
Penn researchers identify a new cause of inherited neuropathy
(University of Pennsylvania School of Medicine) Charcot-Marie-Tooth Disease is a family of inherited disorders of the peripheral nervous system, affecting approximately one in 2,500 Americans. Its most common iteration, CMT1, comes in many forms, most of which have to date been linked to a small set of causative genes. New research from the department of Neurology at the Perelman School of Medicine at the University of Pennsylvania and the Children's Hospital of Philadelphia recently uncovered a new genetic cause of CMT1. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - March 23, 2016 Category: Global & Universal Source Type: news
What Are the Clinical Presentation of Charcot-Marie-Tooth Disease?
Discussion
Charcot-Marie-Tooth disease (CMT) or hereditary motor and sensory neuropathy, is the most common cause of inherited neuropathies affecting 10-82:100,000 individuals. CMT comprises a heterogeneous group of peripheral, chronic inherited neuropathies that affects both the motor and sensory neurons and which have different genetic causations. Charcot and Marie were both French neurologists and Tooth was a British neurologist who described distal muscle wasting in 1886. Dejerine and Sottas reported the infantile form in 1893 which bears their name for this more severe clinical subtype. CMT classification is advancing...
Source: PediatricEducation.org - November 16, 2015 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
Targeting mutant proteins might be silver bullet for neurodegenerative diseases
A mutant protein has been identified by scientists as culprit in Charcot-Marie-Tooth (CMT) diseases. CMT is a group of hereditary disorders that affects about 1 in every 2,500 people in the United States, making it one of the most common inherited neurological diseases. While different forms of the disease vary in their symptoms and underlying genetic causes, the common thread is that CMT damages the nerves in a person's arms and legs. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - October 21, 2015 Category: Science Source Type: news
Pioneering DNA treatment helps IVF baby be born free from genetic disease
Carmen and Gabriel Neagu, who live in Essex, trialled ground-breaking Karyomapping treatment in a London clinic, to ensure son Lucas wasn't born with inherited disease Charcot-Marie-Tooth (CMT). (Source: the Mail online | Health)
Source: the Mail online | Health - May 17, 2015 Category: Consumer Health News Source Type: news
Visualizing Directional Rab7 and TrkA Cotrafficking in Axons by pTIRF Microscopy
Rab7 GTPase is known to regulate protein degradation and intracellular signaling via endocytic sorting and is also known to be involved in peripheral neurodegeneration. Mutations in the GTP-binding pocket of Rab7 cause Charcot–Marie–Tooth type 2B (CMT-2B) neuropathy. It has been suggested that the CMT-2B-associated Rab7 mutants may disrupt retrograde survival signaling by degrading the signaling endosomes carrying the nerve growth factor (NGF) and its TrkA receptor. Studying the cotrafficking of Rab7 and retrograde-TrkA endosomes in axons is therefore important to understand how Rab7 mutants affect the NGF sign...
Source: Springer protocols feed by Biochemistry - March 26, 2015 Category: Biochemistry Source Type: news
Overwork Weakness Relevance in Charcot-Marie-Tooth DiseaseOverwork Weakness Relevance in Charcot-Marie-Tooth Disease
Overwork weakness is a well-established phenomenon in several neuromuscular disorders, but this study questions its bearing on Charcot-Marie-Tooth disease. Journal of Neurology, Neurosurgery, and Psychiatry (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - January 21, 2015 Category: Consumer Health News Tags: Neurology & Neurosurgery Journal Article Source Type: news
Baclofen-Naltrexone-Sorbitol for Charcot-Marie-Tooth DiseaseBaclofen-Naltrexone-Sorbitol for Charcot-Marie-Tooth Disease
Combining three familiar drugs that treat other conditions may help patients with Charcot-Marie-Tooth type 1A disease (CMT1A), a new proof-of-concept study suggests. Reuters Health Information (Source: Medscape Medical News Headlines)
Source: Medscape Medical News Headlines - December 30, 2014 Category: Consumer Health News Tags: Neurology & Neurosurgery News Source Type: news
