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Target ALS Chooses PacBio HiFi Sequencing to Advance ALS Research with Largest Global Genomic Study to Date
Organization's 6,000-genome effort will power global ALS research through detailed long-read sequencing data made freely available to scientists worldwide NEW
About this update from Pacific Biosciences Of California, Inc.
[{"type":"text","content":"Organization's 6,000-genome effort will power global ALS research through detailed long-read sequencing data made freely available to scientists worldwide \nNEW YORK and MENLO PARK, Calif., June 2, 2025 /PRNewswire/ -- Target ALS, a nonprofit breaking down barriers to amyotrophic lateral sclerosis (ALS) research, has partnered with PacBio (Nasdaq: PACB), a leading provider of high-quality, highly accurate long read sequencing platforms, to launch the largest global whole genome sequencing initiative for ALS to date. By applying PacBio's HiFi sequencing to more than 6,000 genomes from people with ALS and healthy controls, the project aims to detect structural variants, repeat expansions, and other hard-to-detect genetic features that may underlie the disease. As part of the ALS Global Research Initiative (AGRI), all data will be openly shared via the Target ALS Data Engine, removing barriers to access and enabling researchers around the world to uncover disease mechanisms and explore new pathways to treatment.\n\n \n \n \n \n \n \n\n \nThe Importance of Long-Read Sequencing for ALS\nALS is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, gradually robbing individuals of muscle control and mobility. While genetic factors are known to play a role in some forms of ALS, much about the disease's origins and progression remains unknown. PacBio HiFi sequencing offers the resolution needed to detect these elements with greater confidence, particularly in non-coding regions of the genome, where regulatory disruptions may play a role in motor neuron degeneration.\n\"90% of ALS patients do not know the cause of their disease. We are combining two powerful approaches to discover new genetic causes of ALS - the first is to go out into communities to generate data from as many people with ALS as we can find, particularly those who would not be able to come into clinic to participate in research, and the second is to use a method of sequencing that allows us to 'see' as much of the genome as is possible,\" says Dr. Amy Easton, Ph.D., Senior Director of Scientific Programs at Target ALS. \nTraditional short-read sequencing has helped identify known ALS-associated mutations, but its limited read length makes it difficult to resolve complex regions of the genome where novel variants may lie. Long-read ...