PacBio and non-profit Target ALS have entered into a new partnership to identify novel disease mechanisms and pathways for the treatment of amyotrophic lateral sclerosis (ALS).
This is the largest global whole-genome sequencing (WGS) initiative focused on ALS to date, with data collated from the collaboration being freely available via the Target ALS data engine.
This scheme aims to identify complex structural variants, repeat expansions and other genetic features that standard tests fail to pick up.
Researchers will also look into the impact of RNA expression and epigenetic alterations in ALS, facilitating the guided development of therapeutics for the disease.
By making this data freely available to researchers at no cost, PacBio and Target ALS hope to remove access barriers and expedite the drug discovery process for those developing ALS medications.
ALS is a progressive neurodegenerative disease that impacts nerve cells both in the brain and the spinal cord, which eventually causes the loss of muscular control and general mobility.
Since the disease is highly genetically complex, 90% of ALS patients do not know the direct cause of their disease.
This is why Target ALS will harness PacBio's HiFi Sequencing platform to sequence more than 6,000 ALS genomes, which will advance ALS research through the gathering and analysis of detailed, long-read sequencing data.
"Through this partnership we will 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," said Dr. Amy Easton, Senior Director of Scientific Programmes at Target ALS.
"We will then use a method of sequencing that allows us to 'see' as much of the genome as is possible," she added.
"ALS has a complex genetic landscape marked by elements that are often missed with traditional sequencing. HiFi sequencing offers the length and accuracy needed to uncover those hidden regions, helping researchers make new connections between genetic variation and disease progression," noted David Miller, Vice President of Marketing at PacBio.
"By making these data broadly available, this project has the potential to accelerate discoveries that could lead to better diagnostics, new therapeutic targets, and ultimately, hope for people living with ALS," Miller concluded.