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Discovery of Causal gene mutation responsible for two dissimilar neurological diseases, Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD)

Reporter: Aviva Lev-Ari, PhD, RN

Expanding the Genetics of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD)

Ground-breaking study, identifying a causal gene mutation for two dissimilar neurological diseases.

TALK Date:

Wednesday, August 7

Time:

10:00 am PT / 1:00 pm ET

Speakers:

Bryan Traynor, MD, Ph.D.

Investigator Head, Neuromuscular Diseases Research Unit 

Laboratory of Neurogenetics National Institute of Aging, National Institutes of Health 

Abstract

Dr. Bryan Traynor and his team participated in a ground-breaking international study, identifying a causal gene mutation responsible for two dissimilar neurological diseases, ALS and FTD. As members of a worldwide consortium, his research team used next-generation sequencing to identify a large hexanucleotide repeat that disrupts the C9ORF72 gene located on chromosome 9. The mutation accounts for approximately 40% of all familial cases of ALS and FTD in European and North American populations, and also ~1% of Alzheimer’s disease cases. ALS, also known as Lou Gehrig’s disease, is a fatal neurodegenerative disorder that leads to rapidly progressive paralysis and respiratory failure. Frontotemporal dementia (FTD) is the most common form of dementia in the population under the age of 65. 

This landmark discovery has impacted how these neurological disorders are diagnosed, investigated and perceived. It also provides a distinct therapeutic target for gene therapy efforts aimed at ameliorating these diseases. 

SOURCE

Illumina

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