SAN DIEGO--(BUSINESS WIRE)--Genome Insight is set to unveil clinical research findings on the genetic foundation of rare diseases at the 2023 NORD Rare Disease & Orphan Products Breakthrough Summit (2023 NORD Breakthrough Summit) in Washington, DC.
Genome Insight will present the results of a collaborative clinical study on Whole Genome Sequencing (WGS) in rare diseases, specifically focusing on sensorineural hearing loss (SNHL).
With a WGS pipeline exclusively designed for rare diseases (‘RareVision’), Genome Insight has fostered its collaborations with global medical institutions.
The initial presentation will spotlight the ‘Genetic foundation of SNHL’. Emphasizing the importance of SNHL’s early detection for effective treatment, Genome Insight participated in a joint research project on genetic variants in 394 hereditary hearing loss patients at Seoul National University Hospital.
It was revealed that RareVision could successfully diagnose 23.6% of previously undiagnosed patients from conventional methods, showcasing its clinical efficacy. This comprehensive analysis identified additional genetic and clinical significances associated with SNHL, marking a significant advancement in diagnostic techniques for rare diseases.
In the next presentation, Genome Insight will unveil their groundbreaking genetic findings of yet another rare disease WGS clinical study, involving the analysis of 300 challenging patients, in collaboration with Seoul Asan Medical Center.
"We are thrilled to present our groundbreaking rare disease research at the esteemed 2023 NORD Breakthrough Summit," stated June-Young Koh, M.D./Ph.D. "Through our collaborative genetic research initiatives, Genome Insight, Inc. is well on its way to becoming the global leader with the most extensive database of rare disease genomes," added Dr. Koh.
ABOUT GENOME INSIGHT, INC.
Genome Insight, Inc. is a global team, with headquarters in San Diego, California. The company was brought to fruition by physicians with a common vision to deliver unparalleled bioinformatics that merges whole-genome and patient data to deliver first-in-class research and discovery, precision diagnostics and treatments. The company’s mission is to improve how patients are diagnosed and treated, by unlocking the full potential of personalized genomic data, in its entirety, through innovative bioinformatics and unparalleled whole-genome interpretation.
