Amyotrophic Lateral Sclerosis Genetic Access Program: Paving the Way for Genetic Characterization of ALS in the Clinic.

Objective: To report the frequency of amyotrophic lateral sclerosis (ALS) genetic variants in a nationwide cohort of clinic-based patients with ALS with a family history of ALS (fALS), dementia (dALS), or both ALS and dementia (fALS/dALS).

Methods: A multicenter, prospective cohort of 573 patients with fALS, dALS, or fALS/dALS, underwent genetic testing in the ALS Genetic Access Program (ALS GAP), a clinical program for clinics of the Northeast ALS Consortium. Patients with dALS underwent hexanucleotide repeat expansion (HRE) testing; those with fALS or fALS/dALS underwent HRE testing, followed by sequencing of , , , , and .

CLT-01 The NEALS Consortium - a collaborative research organization.

NEALS is a non-profit organization that aims to successfully promote both research and awareness of ALS, encouraging collaborations among clinicians, researchers, and industry through a commitment to open scientific communication. The efforts of NEALS members are recognized by disease foundations, research groups, and industry, generating critical support through awards and project funding. Bringing together a group of distinguished scientists and researchers over the nearly quarter century since its inception, NEALS has developed novel research approaches and recruited a number of new investigators into the field of ALS research in an effort to accelerate ALS clinical trials through academic input and partnership.

Theme 2 Genetics and genomics.

A genetic basis is found in ∼70% of familial and ∼15% of sporadic ALS, in research cohorts. Clinical trials of gene-targeted therapies are underway, heralding a new era of personalized medicine in ALS treatment. However, ALS management guidelines do not include recommendations for the offer of genetic testing.