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

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

Topic: Human Genetics & Genetic Disease : Customer

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&rsquo;s disease cases. ALS, also known as Lou Gehrig&rsquo;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.<br /><br />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.



High-volume sequence analysis with BaseSpace Sequence Hub and Edico Genome DRAGEN apps
Casey Geaney, Senior Product Manager and Ilya Chorny, Associate Director, Product Marketing, Illumina, Rami Mehio, VP of Engineering and Shyamal Mehtalia, Director of Operations, Edico Genome
Topic: Human Genetics & Genetic Disease