Pulse Brain · Growing Health Evidence Index
Tier 4 — Narrative / commentaryPeer-reviewed

Amyotrophic lateral sclerosis: translating genetic discoveries into therapies

Fulya Akçimen, Elia R. Lopez, John E. Landers, Avindra Nath, Adriano Chiò, Ruth Chia, Bryan J. Traynor

Nature Reviews Genetics · 2023

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Summary

This Nature Reviews Genetics article surveys contemporary understanding of the genetic architecture of amyotrophic lateral sclerosis and assesses the translational pathway from genomic discovery to clinical therapy. The authors synthesise recent progress in identifying disease-causing and disease-modifying genetic variants, and discuss how these insights are informing drug development and patient stratification strategies. As suggested by the title and journal scope, the paper addresses the challenge of converting genetic knowledge into effective treatments for this rapidly advancing field.

Regional applicability

The genetic findings and therapeutic approaches reviewed are internationally applicable, including to UK clinical practice and NHS treatment pathways. UK-based clinical genetics services and neurology departments may use these findings to inform patient counselling, genetic testing strategies, and access to emerging therapies.

Key measures

Genetic variants associated with ALS; therapeutic targets derived from genetic findings; clinical trial outcomes for genetically-informed treatments

Outcomes reported

The paper reviews recent genetic discoveries in amyotrophic lateral sclerosis (ALS) and examines how these findings are being translated into therapeutic approaches. It synthesises evidence on genetic risk factors and their potential clinical applications.

Theme
Nutrition & health
Subject
Other / interdisciplinary
Study type
Narrative Review
Study design
Narrative review
Source type
Peer-reviewed study
Status
Published
Geography
International
System type
Human clinical
DOI
10.1038/s41576-023-00592-y
Catalogue ID
SNmoj7nwg1-kqk9f9

Topic tags

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