Advances in ALS and FTD Genetics Workshop

August 7, 2014

On November 14, 2014, The ALS Association, the National Institute of Neurological Disorders and Stroke (NINDS) and the Association for Frontotemporal Degeneration (AFTD) will lead a workshop on advances in ALS and FTD genetics

Next-generation sequencing techniques have emerged as a powerful approach to address knowledge gaps in the genetic etiology of complex neurodegenerative diseases. Accordingly, efforts are underway to sequence a growing number of human exomes and whole genomes to identify rare variants that could increase the risk for or modify the onset, progression or severity of neurodegenerative diseases.

In amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD), two disorders with genetic and pathological overlap, recent gene discoveries are transforming our understanding of disease biology. The identification of the C9orf72 hexanucleotide repeat expansion, for instance, now defines a spectrum disorder termed FTD-ALS, where the same mutation can cause either motor or cognitive onset and in rare cases both. However, a significant proportion of familial ALS and FTD, and most of the sporadic forms of these diseases, remain unexplained. Multiple large-scale sequencing efforts are underway to identify missing disease mutations. These efforts are being conducted by multiple genetics consortia supported by private and/or public sources.

This symposium will offer a forum for these consortia to provide status updates, discuss opportunities to coordinate efforts, build consensus on common data elements, facilitate data sharing across different platforms, and identify remaining gaps and next steps.

The workshop will take place in Washington, D.C., at the Washington Marriott Wardman Park.

Registration is open until Friday, November 7, 2014. To register for this workshop, visit https://meetings.ninds.nih.gov/meetings/ALS_FTD_Genetics/.

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