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Gene Discovery Points to New Pathways and Treatment Strategy for Amyotrophic Lateral Sclerosis (ALS)
Monday, August 27, 2012
Breakthrough research funded by CVS/pharmacy and ALS Therapy Alliance cites two new genes that control outgrowth of motor nerve terminals; suppressing one gene may prolong human survival of ALS
NEEDHAM, Mass.--(BUSINESS WIRE)--In the battle to find a cure for amyotrophic lateral sclerosis (ALS), scientists from Belgium have made a rare and exciting discovery: a new gene that influences survival time of ALS. The findings, reported in today’s issue of Nature Medicine, were funded in part by CVS/pharmacy and the ALS Therapy Alliance, a Boston-based nonprofit. The findings also confirm another recent study that identified the same pathway to finding a treatment for ALS.
“CVS/pharmacy is proud to support the innovative research efforts generated through the ALS Therapy Alliance”
The research team, headed by Dr. Wim Robberecht, has found that loss of activity of a receptor called EphA4 substantially extends lifespan in this disease. Dr. Robberecht’s report began with observations in worm and mouse models of ALS. Investigators at the University of Massachusetts Medical School (UMMS) then documented that in rare human cases defects in the same gene prolong survival in human ALS.
“These findings are particularly exciting because they suggest that suppression of EphA4 may be a new way to treat ALS,” said Robert Brown, D.Phil., M.D., a co-author and Chair of Neurology at UMMS and president of the board for the ALS Therapy Alliance.
Two studies identify the same pathway in ALS
The UMMS team reported three weeks ago that there is another new ALS gene, profilin-1 (PFN1). PFN1 works in conjunction with EphA4 to control outgrowth of motor nerve terminals. Together these discoveries highlight a new molecular pathway in neurons that is directly related to ALS susceptibility and severity.
“It is exciting that two studies identify the same pathway in ALS; hopefully, this will accelerate efforts to find a treatment,” said Dr. John Landers, a scientist at UMMS and senior author of the PFN1 study.
ALS, also known as Lou Gehrig’s disease, is a devastating degenerative disorder of motor neurons that leads to progressive weakness and paralysis; life expectancy is just three to five years. ALS attacks the nerve cells responsible for controlling muscles while leaving the brain intact, ultimately causing patients to become “trapped” in their own body. To date, there are no significant treatments for this disease.
The research received key funding from CVS/pharmacy, the largest corporate donor supporting cutting edge research for the cause and cure for ALS, and ALS Therapy Alliance. Over the last decade, the ALS Therapy Alliance, through support from CVS/Pharmacy, has raised $30 million for ALS research, focusing on breakthrough studies that improve the understanding and treatment of ALS.
“CVS/pharmacy is proud to support the innovative research efforts generated through the ALS Therapy Alliance,” said Jonathan C. Roberts, Executive Vice President, CVS Caremark. “These new findings offer hope for the thousands of patients who suffer from ALS, and to their friends, families and communities.”
In addition to the ATA and CVS/Pharmacy, the UMMS ALS research program was generously supported by Project ALS, P2ALS, the Angel Fund, and the National Institutes of Health.
“I am deeply grateful to these extraordinary funding agencies for their continued support of ALS research conducted by the ALS Therapy Alliance to help us explore new ways to solve this deadly medical puzzle,” said Dr. Brown.
CVS/pharmacy, the retail division of CVS Caremark Corporation (NYSE: CVS), is America's leading retail pharmacy with more than 7,300 CVS/pharmacy and Longs Drug stores. CVS/pharmacy is reinventing pharmacy to help people on their path to better health by providing the most accessible and personalized expertise, both in its stores and online at CVS.com. General information about CVS/pharmacy and CVS Caremark is available at info.cvscaremark.com.
About ALS Therapy Alliance (ATA)
Founded in 2000, ALS Therapy Alliance facilitates ALS research projects and collaborations among a diverse group of scientists and clinicians. The scientists involved in the ATA are affiliated with some of the best universities and medical centers, including, among others, the University of Massachusetts Medical School, Massachusetts General Hospital, Harvard Medical School, Massachusetts Institute of Technology, Harvard College, Brigham and Women's Hospital, Beth Israel Deaconess Hospital, and Boston University. ATA's board is comprised of outstanding clinicians, scientists and business associates including two Nobel Prize Laureates, H. Robert Horvitz, Ph.D. and Craig C. Mello, Ph.D., who are committed to the organization's mission. CVS Caremark is the largest corporate donor to ALS research. For more information, please visit http://www.alstherapyalliance.org.