Research ALS Today Fall 2013

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RESEARCH ALS TODAY THE ALS ASSOCIATION

VOLUME 13

ALS Research Workshops 2-3 ALS Genetics 4-5 Research Abstracts 5 Safenowitz Fellowships 6-7 Journal News 8

FALL 2013

The TREAT ALS Research Portfolio ™

TREAT ALS™ Research Projects In 2013, The ALS Association awarded grants to 37 researchers in seven countries throughout the world to further the fight against amyotrophic lateral sclerosis (ALS). Researchers funded by these grants will seek to:

flies. In ALS patients, researchers will examine non-mutant variations in known ALS genes for clues to sporadic ALS. Also, a publicly available database will be developed for genomic data of ALS patients, promoting new gene discovery.

Better understand disease mechanisms, including the effects of newly discovered ALS genes and the actions of mutant proteins. New ALS genes have provided new ideas of disease pathogenesis, which researchers will seek to clarify. The mechanism of the FUS gene will be explored in a new mouse model in which the introduced gene is controlled by a conditional promoter, allowing it to be turned off and on. Newly discovered non-standard translation products from the C9orf72 gene will be studied for their potential role in pathogenesis. A histone modifying enzyme will be studied to determine what role it plays in accelerating disease progression. In addition, the mechanisms behind the selective vulnerability of cortical motor neurons will be studied.

Develop biomarkers to track disease progression and explore disease mechanisms. Imaging and biofluids offer the possibility of gaining insight into the progression of disease and revealing new clues to disease mechanisms. Researchers will develop potential ALS biomarkers based on immunoglobulins, PET imaging, MRI and non-standard peptides in C9orf72 patient cells.

Identify new genes that influence ALS risk and affect motor neuron vulnerability. Major disease-causing genes have been identified for ALS, but it is clear the genome contains many other genes that modify risk. Researchers will seek to discover and better understand these genes through genetic screens in fruit

Discover and test potential treatments in cell and animal models. Researchers will develop a drug screen for compounds that stabilize TDP-43 to prevent misfolding; develop potential therapies that reduce toxic aldehydes; develop and test a gene therapy vector for delivery of interfering RNA; and test the therapeutic potential of a compound from the herbal medicine Ashwagandha in mouse models. Use stem cells to model ALS, understand mechanisms and test new therapeutic approaches. Induced pluripotent stem cells (iPS cells) provide the ability to generate patient-specific stem cells for testing disease mechanisms and screening potential therapies. Researchers will

exploit iPS cells to examine differentiation and selective vulnerability of motor neurons in ALS, to develop gene therapies, and to explore the disease mechanisms of mutations in C9orf72 and TDP-43. Accelerate therapy development through testing new agents in ALS patients. Funding will go to support a Phase II study of rasagiline as a potential neuroprotective agent in ALS. Funds will also support continuing development of antisense oligonucleotide (ASO) therapy against mutant SOD1. Previously funded work has shown that administration of ASOs is safe in ALS patients. Now researchers will determine the normal turnover time of SOD1 protein in the cerebrospinal fluid, to develop metrics for efficacy as this therapy moves forward.

Call for Research Abstracts - 5


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