Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

A class of deep intronic <i>IGHMBP2</i> variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide.

medRxiv : the preprint server for health sciences·2026

Same author

Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis.

Annals of clinical and translational neurology·2026

Same author

Air pollution and mortality in a University of Michigan amyotrophic lateral sclerosis cohort: a survival analysis.

Environmental health : a global access science source·2026

Same author

Author Correction: Autoimmune response to C9orf72 protein in amyotrophic lateral sclerosis.

Nature·2026

Same author

Natural Killer Cell Dysregulation During ALS Disease Progression: A Gene Expression Analysis.

Neurology open access·2026

Same author

A randomized, double-blind, placebo-controlled study of losmapimod in patients with facioscapulohumeral muscular dystrophy: Results of the REACH study.

Journal of neuromuscular diseases·2026

Search research articles

Related Experiment Video

Updated: Jun 19, 2025

Clinical Testing and Spinal Cord Removal in a Mouse Model for Amyotrophic Lateral Sclerosis ALS

Clinical Testing and Spinal Cord Removal in a Mouse Model for Amyotrophic Lateral Sclerosis ALS

Published on: March 17, 2012

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Stephen A Goutman¹, Namita A Goyal², Katelyn Payne³

¹University of Michigan, Ann Arbor, Michigan, USA.

Annals of Clinical and Translational Neurology

|July 24, 2024

Summary

The ALS Identified genetic testing program has seen significant uptake since 2021. Approximately 12.1% of individuals diagnosed with Amyotrophic Lateral Sclerosis (ALS) carried pathogenic or likely pathogenic variants, highlighting the need for genetic testing.

More Related Videos

A Quick Phenotypic Neurological Scoring System for Evaluating Disease Progression in the SOD1-G93A Mouse Model of ALS

A Quick Phenotypic Neurological Scoring System for Evaluating Disease Progression in the SOD1-G93A Mouse Model of ALS

Published on: October 6, 2015

Novel Atomic Force Microscopy Based Biopanning for Isolation of Morphology Specific Reagents against TDP-43 Variants in Amyotrophic Lateral Sclerosis

Novel Atomic Force Microscopy Based Biopanning for Isolation of Morphology Specific Reagents against TDP-43 Variants in Amyotrophic Lateral Sclerosis

Published on: February 12, 2015

Related Experiment Videos

Last Updated: Jun 19, 2025

Clinical Testing and Spinal Cord Removal in a Mouse Model for Amyotrophic Lateral Sclerosis ALS

Clinical Testing and Spinal Cord Removal in a Mouse Model for Amyotrophic Lateral Sclerosis ALS

Published on: March 17, 2012

A Quick Phenotypic Neurological Scoring System for Evaluating Disease Progression in the SOD1-G93A Mouse Model of ALS

A Quick Phenotypic Neurological Scoring System for Evaluating Disease Progression in the SOD1-G93A Mouse Model of ALS

Published on: October 6, 2015

Novel Atomic Force Microscopy Based Biopanning for Isolation of Morphology Specific Reagents against TDP-43 Variants in Amyotrophic Lateral Sclerosis

Novel Atomic Force Microscopy Based Biopanning for Isolation of Morphology Specific Reagents against TDP-43 Variants in Amyotrophic Lateral Sclerosis

Published on: February 12, 2015

Area of Science:

Neurology
Genetics
Medical Diagnostics

Background:

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease.
Genetic factors play a significant role in ALS etiology.
Genetic testing (GT) is crucial for diagnosis and understanding disease mechanisms.

Purpose of the Study:

To present initial findings from the Amyotrophic Lateral Sclerosis (ALS) Identified genetic testing program.
To characterize individuals undergoing genetic testing for ALS.
To determine the frequency of disease-causing variants in the tested population.

Main Methods:

The Invitae Amyotrophic Lateral Sclerosis panel, assaying 22 ALS-associated genes, was utilized.
The program was offered at no cost to individuals aged 18+ in the US and Puerto Rico with ALS diagnosis or family history.
Data collection occurred from June 2021 to October 2023.

Main Results:

Nearly 1000 healthcare professionals ordered the panel, with over 8000 individuals tested.
Of 7483 clinically diagnosed ALS patients, 24.2% had genetic variations.
Pathogenic or likely pathogenic variants were identified in 12.1% of clinically diagnosed individuals.

Conclusions:

The ALS Identified program demonstrates substantial engagement and sustained use.
It represents one of the largest cohorts for genetic ALS testing in the US.
The program underscores the high demand and necessity for genetic testing in ALS patients.