Rare Disease Collaborations: In The News
This Blog Post presents two recent collaboration announcements made between a pharmaceutical company, a rare disease patient advocacy group, NIH and academia.
Genzyme And Charcot-Marie-Tooth Association
Genzyme and the rare disease advocacy organization, Charcot-Marie-Tooth Association (CMTA), announce September 19th, the formation of an alliance to discover therapies for the rare disease, Charcot-Marie-Tooth (CMT) Disease.
CMT is a group of inherited neurological disorders where motor/sensory peripheral nerves are affected. CMT results in the weakening of muscles, atrophy, and sensory loss. It occurs first in the legs and later in the hands. Patients with CMT have nerve cells that are not able to send electrical signals properly. There are multiple forms of CMT including CMT1, CMT2, CMT3, CMT4, and CMTX.
“CMT1, caused by abnormalities in the myelin sheath, has 3 main types. CMT1A is an autosomal dominant disease that results from a duplication of the gene on chromosome 17 that carries the instructions for producing the peripheral myelin protein-22 (PMP-22) …. Patients experience weakness and atrophy of the muscles of the lower legs …..”.
CMTA is a registered 501(c)(3) corporation, a non-profit organization providing support to the hereditary neuropathy patient community. The alliance between CMTA and Genzyme is for the purpose of discovering therapies for CMT1A. There are currently no available therapies to treat CMT1A. The collaboration is between the CMTA STAR network of investigators and Genzyme, that will use the Sanofi high-throughput screening facility in Arizona. Assays will be used to screen compound libraries that have more than 2 million small molecules. The objective is to identify small molecule candidate therapies for CMT1A.
NIH And The Centers For Collaborative Research In Fragile X
The National Institutes of Health (NIH) announces September 23rd, that over the next five years it will be making funding awards of $35 million to support the Centers for Collaborative Research in Fragile X program. The objective is to further the understanding of Fragile X-associated disorders and to develop treatments.
Fragile X-associated disorders are a result of mutations in a single gene, FMR1.
“FMR1 normally makes a protein that helps create and maintain connections among cells in the brain and nervous system. Changes in the gene can reduce or eliminate the protein, which may result in Fragile X syndrome or other conditions … Fragile X syndrome is the most common form of inherited intellectual and developmental disabilities, affecting approximately 1/4,000 males and 1/8,000 females …have disabilities ranging from mild to severe, as well as emotional and behavioral problems”.
Grants were awarded to research teams lead by the following investigators:
• Kimberly M. Huber, Ph.D., at the University of Texas Southwestern Medical Center, Dallas
• Joel D. Richter, Ph.D., University of Massachusetts Medical School, Worcester, MA
• Stephen T. Warren, Ph.D., Emory University.
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