Charcot Marie Tooth Disease News and Research

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Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles as well as sensory cells that detect sensations such as touch, pain, heat, and sound.

Researchers design small compounds with potential to correct mitochondrial dysfunction

Charcot-Marie-Tooth disease is an inherited disorder that leads to a gradual loss of motor neurons and, eventually, paralysis. The condition is caused by genetic mutations that disrupts cells' energy factories, called mitochondria.

25 Oct 2016

Researchers find switch that helps restore damaged axons

Researchers at the University of Wisconsin-Madison have found a switch that redirects helper cells in the peripheral nervous system into "repair" mode, a form that restores damaged axons.

16 Sep 2016

Researchers clarify beneficial function of brain protein linked to mad cow disease

Scientists have clarified details in understanding the beneficial function of a type of protein normally associated with prion diseases of the brain, such as bovine spongiform encephalopathy (commonly known as mad cow disease) and its human counterpart, variant Creutzfeldt-Jakob disease.

8 Aug 2016

Penn neurologists uncover new genetic cause of Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease (CMT) 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.

23 Mar 2016

Study identifies gene linked to rare, complex diseases

IRB Barcelona identifies GEMC1 as a master gene for the generation of multiciliated cells—cells with fine filaments that move fluids and substances—which are found exclusively in the brain, respiratory tract, and reproductive system.Defects in multiciliated cells lead to ciliopathies—rare and complex diseases that are poorly understood and for which not all causative genes have been identified.

3 Mar 2016

Invitae announces dramatic expansion of genetic testing menu

Invitae Corporation (NYSE: NVTA), a genetic information company, has announced that it has more than doubled the size of its genetic testing platform to include more than 600 genes and will begin releasing the new content between now and the end of the year. Invitae is immediately expanding its menu with dozens of new test panels for hereditary cancer, cardiovascular, neuromuscular, pediatric and other rare disorders.

7 Oct 2015

Scientists reveal role of dynamin and show how specific mutations impair function of dynamin

Cells continually form membrane vesicles that are released into the cell. If this vital process is disturbed, nerve cells, for example, cannot communicate with each other. The protein molecule dynamin is essential for the regulated formation and release of many vesicles.

28 Aug 2015

Determining the dynein-dynactin complex structure: an interview with Dr Gabriel C. Lander

This is a macromolecular assembly is made up of two components, dynein and dynactin, that works to move molecular cargo (organelles, RNA, vesicles, proteins, viruses) along microtubule highways within our cells.

16 Aug 2015

TyrRS enzyme protects DNA during cellular stress

Scientists at The Scripps Research Institute have found that an enzyme best known for its fundamental role in building proteins has a second major function: to protect DNA during times of cellular stress.

3 Oct 2014

State highlights: Mass. health spending slows, but for how long?

Two years ago, Massachusetts set what was considered an ambitious goal: The state would not let that persistent monster, rising health care costs, increase faster than the economy as a whole.

4 Sep 2014

Researchers examine link between alcoholism and loss of muscle strength

Muscle weakness is a common symptom of both long-time alcoholics and patients with mitochondrial disease. Now researchers have found a common link: mitochondria that are unable to self-repair.

22 Apr 2014

U.Va. researchers named recipients of 2013 Hartwell Individual Biomedical Research Awards

University of Virginia neurologist Dr. Erin Pennock Foff, biologist Sarah Kucenas and biomedical engineer Shayn Peirce-Cotter have been named recipients of 2013 Hartwell Individual Biomedical Research Awards to benefit children of the United States. Each scientist will receive $100,000 in direct annual research support from The Hartwell Foundation for three years.

19 Apr 2014

Patients suffering from severe Charcot-Marie-Tooth disease can benefit from reconstructive surgery

For patients suffering from Charcot-Marie-Tooth disease - a surprisingly common neurological disorder that can cause the feet to become weak and contorted - surgery is considered a last resort. But for patients like Elissa Williams and her brother Kyle, surgery can bring an end to crippling pain and lead to active lives with feet facing forward and balanced on the ground.

12 Jul 2013

New treatment strategy for patients with CMT disease on the horizon

A potential new treatment strategy for patients with Charcot-Marie-Tooth disease is on the horizon, thanks to research by neuroscientists now at the University at Buffalo's Hunter James Kelly Research Institute and their colleagues in Italy and England.

29 Apr 2013

Genetic testing services for rare neurological disorders launched by Athena Diagnostics

Athena Diagnostics, a leader in neurological diagnostics, today announced the clinical availability of new genetic tests to aid the detection of several rare neurological disorders, including hereditary neuropathy, neuromuscular disease, epilepsy and certain movement disorders. The lab-developed tests are available through Athena Diagnostics, a business of Quest Diagnostics (NYSE:DGX), the world’s leading provider of diagnostic information services.

From Quest Diagnostics 19 Mar 2013

Cedars-Sinai physician-scientist receives grant to study Charcot-Marie-Tooth disease

A Cedars-Sinai physician-scientist has been awarded a $3 million grant from the California Institute for Regenerative Medicine to study with new stem cell technology Charcot-Marie-Tooth disease, the most common inherited neurological disorder and which damages nerves that control muscles.

14 Dec 2012

Cedars-Sinai scientist to study Charcot-Marie-Tooth disease

14 Dec 2012

MitoTarget Project and neurodegenerative diseases: an interview with Rebecca Pruss, Ph.D., CSO of Trophos

The MitoTarget Project was a project funded by the European Commission, under their FP7 programme. It was funding for a call published in 2007.

21 Aug 2012

New U-M hESC lines now available for federally-funded research

Six new human embryonic stem cell lines derived at the University of Michigan have just been placed on the U.S. National Institutes of Health's registry, making the cells available for federally-funded research.

15 Jun 2012

Study describes new family of six genes that control mitochondrial transport in neurons

A team headed by Eduardo Soriano at the Institute for Research in Biomedicine (IRB Barcelona) has published a study in Nature Communications describing a new family of six genes whose function regulates the movement and position of mitochondria in neurons.

10 May 2012