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Last Posted: May 18, 2023
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Amyotrophic lateral sclerosis: translating genetic discoveries into therapies.
Fulya Akçimen et al. Nature reviews. Genetics 2023 4

Recent advances in sequencing technologies and collaborative efforts have led to substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS). This momentum has, in turn, fostered the development of putative molecular therapies. In this Review, we outline the current genetic knowledge, emphasizing recent discoveries and emerging concepts such as the implication of distinct types of mutation, variability in mutated genes in diverse genetic ancestries and gene–environment interactions.

Wearable device and smartphone data quantify ALS progression and may provide novel outcome measures
SA Johnson et al, NPJ Digital Medicine, March 6, 2023

Amyotrophic lateral sclerosis (ALS) therapeutic development has largely relied on staff-administered functional rating scales to determine treatment efficacy. We sought to determine if mobile applications (apps) and wearable devices can be used to quantify ALS disease progression through active (surveys) and passive (sensors) data collection. Forty ambulatory adults with ALS were followed for 6-months.

Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
Megat Salim et al. Nature communications 2023 1 (1) 342

We show that ALS heritability is enriched in splicing variants and in binding sites of 6 RNA-binding proteins including TDP-43 and FUS. A transcriptome wide association study (TWAS) identified 6 loci associated with ALS, including in NUP50 encoding for the nucleopore basket protein NUP50. Independently, rare variants in NUP50 were associated with ALS risk (P?=?3.71.10-03; odds ratio = 3.29; 95%CI, 1.37 to 7.87) in a cohort of 9,390 ALS/FTD patients and 4,594 controls.

ALS therapy hits molecular mark but misses clinical one
K O'Leary, Nature Medicine, October 3, 2022

At week 24, those receiving tofersen showed a reduction in concentrations of toxic SOD1 protein and markers of neuronal injury. Despite this, there was no significant difference in the primary endpoint — the rate of functional decline (according to the ALS Functional Rating Scale-Revised) – between the tofersen group (-6.98 points) and the placebo group (-8.14 points).

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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.

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