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.



Illumina User Group Meeting - New York City
New York City, NY | North America
Topic: Cancer Genomics : Reproductive & Genetic Health : Human Genetics & Genetic Disease : Microbiology & Infectious Disease