Precision delivery of human frataxin protein into cells favorably affects growth, life span and the heart in a mouse model of Friedreich’s ataxia
posted on December 26, 2011 - 6:00am
A research team has demonstrated that a cell-penetrating molecule called TAT transported human frataxin protein to its proper place in cells, where it normalized growth, improved heart structure and function, and increased survival rate and life span in a mouse model of severe Friedreich’s ataxia (FA).
A multinational study supported by MDA and NINDS will study correlations between mutations and symptoms in four subtypes of Charcot-Marie-Tooth disease
posted on November 10, 2011 - 6:00am
A large-scale study, supported in part by MDA, seeks to determine the natural history (general disease course) of four subtypes of Charcot-Marie-Tooth disease (CMT), with particular emphasis on correlations between genetic mutations and symptoms. The four subtypes are CMT1B, CMT2A, CMT4A and CMT4C.
An international MDA-supported study will identify genetic modifiers of CMT1A and determine additional genetic causes of CMT in general
posted on October 24, 2011 - 2:30pm
Researchers supported in part by MDA are seeking people with Charcot-Marie-Tooth disease (CMT) to participate in a study to identify genetic modifiers of the type 1A form of CMT (CMT1A) and determine previously unknown genetic causes of CMT.
Research items about Friedreich's ataxia, myasthenia gravis, mitochondrial myopathies, type 1 myotonic dystrophy, gene therapy and gene modification
posted on July 7, 2011 - 10:28am
Edison drugs target FA, mitochondrial diseases
Quest takes a look at gene therapy, 'antisense' and other cutting-edge scientific approaches and how they're being applied to diseases in MDA's program
posted on July 1, 2011 - 4:15pm
Antisense oligonucleotides block flawed genetic instructions
Antisense oligonucleotides — also called antisense, oligos, or simply AONs — are pieces of genetic code that keep other genetic code from being processed. Designed to pair up with a particular sequence of DNA or RNA, AONs can change, block or destroy targeted genetic instructions in a variety of ways.
Are myelin and axons 'talking' to each other — and what are they saying?
posted on July 1, 2011 - 3:52pm
MDA-supported research in Charcot-Marie-Tooth disease is focused on figuring out what goes wrong at the molecular level in CMT-affected axons or the myelin sheaths that surround them, rather than on attempting to fix the problem directly or preserving nerve function in spite of it. A central theme emerging from the last decade of research is that myelin and axons require constant signals from...
Individuals with CMT are encouraged to participate in a new international database
posted on July 1, 2011 - 3:40pm
The field of Charcot-Marie-Tooth disease (CMT) research is expanding, and people with the disease can help move it forward.
Discovery of the complicated genetics underlying CMT has made it clear that more studies are needed to correlate the progression, symptoms and outward manifestations of the disease with its specific genetic type.
