The new approach will be tested in three cohorts of patients diagnosed with Cystic Fibrosis, Alzheimer's Disease, and Coronary Artery Disease

ATLANTA, GA, UNITED STATES, August 20, 2021 /EINPresswire.com/ -- Sequegenics today announced that it has been awarded a National Science Foundation (NSF) Small Business Innovation Research (SBIR) grant for $251,073 to conduct research and development (R&D) work on a new approach that facilitates large-scale implementation of human genome sequencing using long-read Next Generation Sequencing technology.

Long-read NGS technology can produce reads that are much longer than those produced by other DNA sequencing technologies, allowing to capture certain types of genetic variation that would go otherwise unnoticed. However, long-read NGS suffers from a significant error rate, and generating sufficient genome-wide data to compensate for the background noise remains prohibitively expensive. The company’s approach is based on proprietary technology that allows for accurate variant calling at limited sequencing coverage, therefore driving dramatic reductions in cost and turn-around-times. The project will be conducted in collaboration with Dr. Arlene Stecenko, Dr. Arshed Quyyumi, and Dr. Allan Levey from the departments of Pediatrics, Medicine, and Neurology, respectively, of the School of Medicine at Emory University, and will involve building “long-read genome databases” of patients diagnosed with Cystic Fibrosis, Coronary Artery Disease and Alzheimer’s disease.

“Sequegenics platform for long-read sequencing is well suited to advance our understanding of the genetic basis of Alzheimer’s and related complex neurodegenerative diseases,” said Dr. Allan Levey, Director of the Emory Goizueta Alzheimer’s Disease Research Center. “We know there is a strong heritable basis for these diseases but most of the specific genetic factors remain unclear. Accurate and affordable long-read sequencing as enabled by the Sequegenics approach promises to fill a big gap in our understanding of these conditions.”

“NSF is proud to support the technology of the future by thinking beyond incremental developments and funding the most creative, impactful ideas across all markets and areas of science and engineering,” said Andrea Belz, Division Director of the Division of Industrial Innovation and Partnerships at NSF. “With the support of our research funds, any deep technology startup or small business can guide basic science into meaningful solutions that address tremendous needs.”

“There is significant amount of variability in our genomes that remain hidden to most technologies, and which might hold the clue to develop more accurate diagnostics tests and novel therapeutics,” said Dario Dilernia, founder and CEO of Sequegenics. “With the support from NSF, and our collaborators, we will advance the development of our cloud platform to facilitate efficient processing and streaming of sequencing data, and build long-read genome databases that will become a valuable source of unique genetic information that can become potentially transformative for advancing novel diagnostics approaches and enabling drug discovery”.

About the National Science Foundation's Small Business Programs: America’s Seed Fund powered by NSF awards $200 million annually to startups and small businesses, transforming scientific discovery into products and services with commercial and societal impact. Startups working across almost all areas of science and technology can receive up to $2 million to support research and development (R&D), helping de-risk technology for commercial success. America’s Seed Fund is congressionally mandated through the Small Business Innovation Research (SBIR) program. The NSF is an independent federal agency with a budget of about $8.5 billion that supports fundamental research and education across all fields of science and engineering.

Dario Dilernia
Sequegenics
+1 404-392-1416
contact@sequegenics.com

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