Research at Day Lab
Cecil B. Day Laboratory for Neuromuscular Research
The Cecil B. Day Laboratory for Neuromuscular Research was founded in 1983 to investigate genetic defects that cause neuromuscular paralysis. The focus of the initial investigations was a rare form of muscular dystrophy known as Miyoshi myopathy. A second disease that has been extensively studied in the Day Lab is Lou Gehrig’s Disease, or amyotrophic lateral sclerosis (ALS). Other research topics include periodic paralysis, a sensory-motor neuropathy (HSN1) and a form of adrenoleukodystrophy (Lorenzo’s Oil Disease). In each disease category, the initial research goal has been to identify primary gene defects that can cause these disorders. In each case, investigators in the Day Laboratory have been fortunate to participate in the discovery of underlying gene defects. The laboratory is now generating animal and Petri dish models of each disease as a first step toward developing treatments.
Your donations DO make a difference!
Because of the support of The Angel Fund family, we have helped in the funding of major ALS breakthroughs!
The Angel Fund’s support of ALS research at the Day Lab at UMass Medical Center in Worcester, under the direction of Dr. Robert H. Brown, Jr., has helped fund a pair of critical ALS breakthroughs reported within the past month.
Scientists from Belgium made the rare discovery of a new gene that influences survival time of ALS. The findings, reported in a recent issue of Nature Medicine, also confirm another recent study that identified the same pathway to finding a treatment for ALS which was conducted at UMass Medical School. Both these critical findings were funded in part by The Angel Fund!
The development published last week in the journal Nature Medicine by Belgian doctor Wim Robberecht, Dr. Brown and several other researchers, centers on a gene called EphA4. Their work found that the disease advances more slowly when that gene isn’t working properly.
According to the reports, the research team found that loss of activity of a receptor called EphA4 substantially extends lifespan in this disease. Robberecht’s report began with observations in worm and mouse models of ALS. Investigators at the University of Massachusetts Medical School then documented that in rare human cases defects in the same gene prolong survival in human ALS.
The UMass Medical School study identified the same pathway to finding a treatment for ALS. Researchers identified an ALS-causing gene that sits on the same molecular pathway as EphA4. This new ALS gene, profilin-1 (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.
Dr. Brown stated that these findings are particularly exciting because they suggest that suppression of EphA4 may be a new way to treat ALS.
In addition to The Angel Fund, the UMass Medical Center ALS research program was also supported by ALS Alliance Therapy and CVS/pharmacy, Project ALS, P2ALS, and the National Institutes of Health.
Thank you for your support!!!
We will find the cure!!