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Last Posted: Aug 04, 2022
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A machine-learning based objective measure for ALS disease severity
FG Vieira et al, NPJ Digital Medicine, April 8, 2022

We developed a machine learning (ML) based objective measure for ALS disease severity based on voice samples and accelerometer measurements from a four-year longitudinal dataset. 584 people living with ALS consented and carried out prescribed speaking and limb-based tasks. 542 participants contributed 5814 voice recordings, and 350 contributed 13,009 accelerometer samples, while simultaneously measuring ALSFRS-R scores.

Predictive genetic testing for Motor neuron disease: time for a guideline?
A McNeil et al, EJHG, April 5, 2022

Until recently, predictive testing for motor neuron disease (MND, also known as amyotrophic lateral sclerosis (ALS)) was available to only a small proportion of families who had a known disease causing genetic variant in a limited group of causal genes (e.g. SOD1). However, the application of newer genomic technologies has identified many more genes linked to MND (e.g. c9orf72). Even in the absence of a family history of MND, comprehensive genomic approaches (c9orf72 expansion testing, followed by gene panel testing) can identify a causal genetic variant in around 20% of MND probands of Western European ethnicity.

Amyotrophic lateral sclerosis - insight into susceptibility.
Todd Tiffany W et al. Nature reviews. Neurology 2022 2

The largest genome-wide association study of amyotrophic lateral sclerosis to date has identified new risk loci and provided insight into factors that influence susceptibility to the disease, highlighting the possibility that disease risk and disease progression are influenced by separate factors, with therapeutic implications.

New antisense oligonucleotide therapies reach first base in ALS
A Lopez, Nature Medicine, January 24, 2022

In 1993, mutations in the superoxide dismutase 1 (SOD1) gene were the first genetic cause identified in amyotrophic lateral sclerosis (ALS), a neurological disease characterized by rapidly progressive paralysis and death from respiratory failure. Today, an ever-evolving list of genes has been implicated in ALS, also known as Lou Gehrig’s disease after the eponymous baseball player who died of the condition in 1941. Although most cases of ALS are sporadic and of unknown etiology, the cases linked to gene mutations offer an opportunity to use genetic approaches to treat the disease.

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.