posted on April 9, 2012 - 12:00pm
Note: The research news featured in Research Updates is a compilation of Quest News Online articles posted between issues of the print magazine.
posted on January 1, 2012 - 1:42pm
Stem cells have been much in the news lately, including for neuromuscular diseases.
One extremely promising approach has been to create stem cells from the adult (differentiated) cells of humans or animals, and then reprogram them back to a stemlike state, after which they can be redifferentiated into a desired cell type, such as muscle or nerve cells. Stem cells made from differentiated cells...
posted on January 1, 2012 - 12:10pm
Researchers studying ‘natural history’ of four CMT subtypes
Participants are sought for a large-scale study, supported in part by MDA, 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.
posted on October 1, 2011 - 2:52pm
Exon skipping is a strategy currently being developed for Duchenne muscular dystrophy (although it may have application to other genetic diseases down the line) in which sections of genetic code are “skipped,” allowing the creation of partially functional dystrophin, the muscle protein missing in DMD.
posted on October 1, 2011 - 10:09am
Featured in this update:
Families, experts meet at BMD ConferenceThree trials study blood-vessel-dilating drugs in BMD, DMDResults of daily, weekly prednisone treatment about the same in DMD
posted on July 1, 2011 - 1:31pm
Registry and studies open to people with CMT
posted on July 1, 2011 - 1:01pm
New CMS-causing genetic mutations indentified
Scientists supported in part by MDA have identified mutations in the gene for the plectin protein as a rare cause of a congenital myasthenic syndrome (CMS).
posted on March 31, 2011 - 10:19am
Editor's note 1/25/12: This story has been updated to reflect the online availability of a CMD Family Guide.
A panel of 82 international experts — including several MDA grantees and clinic directors — has produced the first-ever “standard of care” guidelines for the congenital muscular dystrophies (CMDs), a group of genetic neuromuscular disorders that have their onset at birth or in early...
posted on March 31, 2011 - 10:04am
In this issue: MDA awards 44 new research grants * A recently discovered gene variant may indicate severity of DMD * Heart care in Duchenne MD and Becker MD addressed at MDA-sponsored meeting * Duchenne-Becker 'read-through' drug to begin development * Flow charts may aid in diagnosing CMT
posted on March 31, 2011 - 9:55am
In this issue: Acceleron trial of ACE-031 in DMD * Santhera trial of idebenone in DMD * NIH seeking parents’ perceptions of DMD/BMD ataluren trials * Becker MD study seeks participants * Biobank collecting blood samples for neuromuscular disease research * Taiwanese trial finds hydroxyurea ineffective in types 2 and 3 SMA
For current information on clinical trials and studies, see the database at...
