Muscular Dystrophy Association announced 38 research projects targeting 15 neuromuscular diseases that were awarded research grants totalling roughly 12 million USD. Three of the grants were awarded to research focused on spinal muscular atrophy (SMA).
Tomoyuki Awano, a postdoctoral research scientist in the department of pathology and cell biology at Columbia University Medical Center in New York, was awarded a development grant to search for genes that modify the onset and disease course of SMA.
SMA is caused by the deletion of the SMN1 gene and a resulting deficiency of functional SMN protein. In humans, a nearly identical gene called SMN2 produces some partially functional SMN protein. Typically, the greater the number of copies a person with SMA has of the SMN2 gene, the less severe the disease.
A research grant was awarded to Christian Lorson, a professor in the departments of veterinary pathobiology, and molecular microbiology & immunology, at the University of Missouri in Columbia. The funds will help support Lorson’s research into targeting skeletal muscle as a therapeutic strategy in SMA.
Many therapeutic strategies under development for SMA involve replacement of the missing SMN1 protein; the aim of such strategies is to prevent loss of nerve cells called motor neurons.
Lorson and colleagues will use two different mouse models of SMA to test various gene therapy vectors that instead target skeletal muscle. Their work is expected to determine whether such a therapy based on modulating activity of a non-SMN protein can reduce disease severity and extend survival.
Kentaro Sahashi, a postdoctoral research scientist at the Cold Spring Harbor Laboratory in Cold Spring Harbor, N.Y., was awarded a development grant to study the roles of the SMN protein in SMA.
In mice with an SMA-like disease, Sahashi and colleagues plan to use synthetic molecules called antisense oligonucleotides (ASOs) to influence and evaluate different SMN2 splicing patterns and determine whether they have potential therapeutic value.
They expect to gain insight into the roles of the SMN protein in the SMA disease process, as well as an understanding of its normal functions in both the central nervous system and peripheral tissues.
"This in turn," Sahashi said, "will contribute to the ongoing development of targeted therapeutics and the establishment of a useful therapeutic time window."
Tomoyuki Awano, a postdoctoral research scientist in the department of pathology and cell biology at Columbia University Medical Center in New York, was awarded a development grant to search for genes that modify the onset and disease course of SMA.
SMA is caused by the deletion of the SMN1 gene and a resulting deficiency of functional SMN protein. In humans, a nearly identical gene called SMN2 produces some partially functional SMN protein. Typically, the greater the number of copies a person with SMA has of the SMN2 gene, the less severe the disease.
But sometimes the SMN2 copy number doesn’t predict a person’s disease course. This has been demonstrated in families, where multiple members are missing the SMN1 gene and have the same number of copies of SMN2, but whose SMA turns out drastically different. In previous work, Awano and colleagues have confirmed that this inconsistency is observed also in mouse models of SMA. A possible explanation is "modifier genes" that influence the disease course via the modulation of different biological pathways. "Identifying modifier genes will not only reveal a potential target for cures, but will also shed light on the unknown disease mechanisms of SMA," Awano said.
A research grant was awarded to Christian Lorson, a professor in the departments of veterinary pathobiology, and molecular microbiology & immunology, at the University of Missouri in Columbia. The funds will help support Lorson’s research into targeting skeletal muscle as a therapeutic strategy in SMA.
Many therapeutic strategies under development for SMA involve replacement of the missing SMN1 protein; the aim of such strategies is to prevent loss of nerve cells called motor neurons.
Lorson and colleagues will use two different mouse models of SMA to test various gene therapy vectors that instead target skeletal muscle. Their work is expected to determine whether such a therapy based on modulating activity of a non-SMN protein can reduce disease severity and extend survival.
Kentaro Sahashi, a postdoctoral research scientist at the Cold Spring Harbor Laboratory in Cold Spring Harbor, N.Y., was awarded a development grant to study the roles of the SMN protein in SMA.
In mice with an SMA-like disease, Sahashi and colleagues plan to use synthetic molecules called antisense oligonucleotides (ASOs) to influence and evaluate different SMN2 splicing patterns and determine whether they have potential therapeutic value.
They expect to gain insight into the roles of the SMN protein in the SMA disease process, as well as an understanding of its normal functions in both the central nervous system and peripheral tissues.
"This in turn," Sahashi said, "will contribute to the ongoing development of targeted therapeutics and the establishment of a useful therapeutic time window."
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