Quest Magazine

SMA Research: Gene Mutation Improves Disease Course

Scientists have uncovered a variant (mutation) in the SMN2 gene that leads to production of more full-length SMN protein molecules and a milder version of spinal muscular atrophy (SMA). The finding, a naturally occurring point mutation (a single letter change in the DNA code) in this gene, has immediate implications for genetic testing and possible long-term implications for therapy development.

Experimental Compound for FA Hits Its Molecular Target

Scientists at the Scripps Research Institute in La Jolla, Calif., and the Repligen Corporation in Waltham, Mass., have identified the precise biochemical brake that limits production of a needed protein in Friedreich's ataxia (FA) and determined that this brake is specifically targeted by an experimental compound being developed to treat this disease. MDA is supporting Repligen to develop this drug.

Enhancing Cellular Cleanup Mechanism Helped ALS Mice

New research supports strategies that augment a natural process in the nervous system called autophagy – a cellular cleanup and garbage-disposal system — as a possible therapeutic avenue in amyotrophic lateral sclerosis (ALS).

Autophagy (literally "self-eating") is activated when large amounts of debris and abnormal cellular components require destruction.

Gene Mutation Improves SMA Disease Course

Scientists have uncovered a variant (mutation) in the SMN2 gene that leads to production of more full-length SMN protein molecules and a milder version of spinal muscular atrophy (SMA). The finding, a naturally occurring point mutation (a single letter change in the DNA code) in this gene, has immediate implications for genetic testing and possible long-term implications for therapy development.

NIH ALS Lithium Trial Stops

The investigators on a study of lithium carbonate in amyotrophic lateral sclerosis (ALS), funded by the National Institutes of Health, the ALS Association and the ALS Society of Canada, announced Sept. 23, 2009, that they will stop their study after an interim analysis showed the drug was not beneficial. MDA is not a funder of this study.

NIH ALS Lithium Trial Stops

The investigators on a study of lithium carbonate in amyotrophic lateral sclerosis (ALS), funded by the National Institutes of Health, the ALS Association and the ALS Society of Canada, announced Sept. 23, 2009, that they will stop their study after an interim analysis showed the drug was not beneficial. MDA is not a funder of this study.

NIH Cuts Short ALS Lithium Trial; MDA’s Trial Continues for Now

The investigators on a study of lithium carbonate in amyotrophic lateral sclerosis (ALS), funded by the National Institutes of Health, the ALS Association and the ALS Society of Canada, announced Sept. 23, 2009, that they will stop their study after an interim analysis showed the drug was not beneficial. MDA is not a funder of this study.

First Human Stem Cell Trials for ALS to be Conducted at MDA/ALS Center in Atlanta

The first FDA-approved human stem cell trial to treat amyotrophic lateral sclerosis (ALS) or Lou Gehrig’s disease will be conducted at the Muscular Dystrophy Association ALS Center at Emory University in Atlanta. 

The Food and Drug Administration has given Neuralstem, Inc., a Maryland biotherapeutics company, the go-ahead to conduct a Phase 1 trial to study the safety of Neuralstem’s cells and surgical procedures.

ALS Research: Risk Raisers

A large, multinational study to identify genetic risk factors associated with amyotrophic lateral sclerosis (ALS) has found two DNA sequences on chromosomes 9 and one on chromosome 19 that are significantly different in people with and without the disease and may contribute to its development.

ALS Research: Risk Raisers

A large, multinational study to identify genetic risk factors associated with amyotrophic lateral sclerosis (ALS) has found two DNA sequences on chromosomes 9 and one on chromosome 19 that are significantly different in people with and without the disease and may contribute to its development.

Pages