Saphyr helps provide a better understanding of ALS, Alzheimer’s disease and Parkinson’s disease
SAN DIEGO, Dec. 19, 2019 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (BNGO) announced today that Mayo Clinic has adopted the Saphyr system. A team led by Dr. Mark Ebbert brought the Saphyr system in-house after determining that Bionano’s technology can provide a deeper understanding of the genetic causes of neurodegenerative diseases and the routes to developing novel diagnostic assays and drugs to enable therapeutic interventions.
Mayo Clinic is a leading nonprofit hospital system with campuses in Rochester, Minnesota; Scottsdale and Phoenix, Arizona; and Jacksonville, Florida, and is a renowned center for clinical and biomedical research, with thousands of full-time research personnel. Dr. Ebbert studies neurodegenerative diseases using cutting-edge sequencing technologies and computational approaches, with a focus on Alzheimer's disease (AD) and amyotrophic lateral sclerosis (ALS, or Lou Gehrig's disease).
Dr. Ebbert uses long-read sequencing and Bionano whole-genome imaging because it can identify large structural mutations that cause disease. Many individuals who have neurodegenerative diseases such as AD and ALS do not have a known genetic cause, and studies to date have focused on short-read sequencing, overlooking disease-causing structural mutations. Bionano’s Saphyr provides the potential of long-read sequencing now. During his presentation at Bionano’s workshop at the American Society of Human Genetics (ASHG) Annual Meeting, Dr. Ebbert demonstrated that Saphyr was able to capture and measure the full length of the C9orf72 repeat expansion that causes ALS, and further demonstrated a continuum of mosaicism—something no modern technology has been capable of doing to date. Dr. Ebbert also demonstrated that Saphyr was able to resolve the structure of a complex gene triplication event implicated in Parkinson’s disease. In Alzheimer’s disease samples, Saphyr was able to measure the number of repeat domains in CR1—a top Alzheimer’s disease gene—that cannot be properly analyzed with short-read sequencing. Dr. Ebbert’s team was able to resolve inversion patterns that are protective against Tau-tangles, a hallmark pathology in Alzheimer’s disease, and identified new DNA sequence in this region that could be an important disease modifier.
Dr. Mark Ebbert, commented, “Saphyr provides us with unparalleled molecule lengths with deep coverage at an affordable price for clinical labs and large cohorts. It has the throughput we need, comes with mature and automated bioinformatics, and intuitive visualization tools. We are excited to use Saphyr on a much larger population to help solve some of the scientific questions in neurodegenerative disease, with the hope of developing a meaningful therapeutic and a pre-symptomatic disease diagnostic.”
“Dr. Ebbert’s work with Saphyr is an important milestone for Bionano,” said Erik Holmlin, Ph.D., CEO of Bionano Genomics. “He has demonstrated that Saphyr can be a powerful new tool for neurodegenerative disease research, and neurogenetics in general. We are extremely proud that the Mayo Clinic chose Bionano technology for this important work that can affect and benefit all of us.”
About Bionano Genomics
Bionano is a life sciences instrumentation company in the genome analysis space. Bionano develops and markets the Saphyr system, a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to drive the adoption of digital cytogenetics, which is designed to be a more systematic, streamlined and industrialized form of traditional cytogenetics. The Saphyr system comprises an instrument, chip consumables, reagents and a suite of data analysis tools.
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