-

Genome Insight Announces Upcoming Presentations at 2023 NORD Breakthrough Summit on Enhancing Diagnostic Precision for Sensorineural Hearing Loss

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.

Contacts

Genome Insight, Inc.


Release Versions

Contacts

More News From Genome Insight, Inc.

ChiMei Medical Center adopts Inocras MRDVision and WGS bioinformatics platform for precision oncology in Taiwan

SAN DIEGO & TAINAN CITY, Taiwan--(BUSINESS WIRE)--Inocras Inc., a global leader in whole-genome sequencing (WGS) and bioinformatics, today announced the signing of a Memorandum of Understanding (MOU) with ChiMei Medical Center (CMMC), a premier medical institution in Taiwan, and Trivator Biomedical Limited, a biomedical advisory firm in Taiwan. This expansion agreement aims to introduce Inocras’s MRDVision tumor-informed minimal residual disease (MRD) test, utilizing circulating tumor DNA (ctDN...

Inocras Unveils New MRDVision™ Data, Demonstrating Industry-leading Sensitivity in Head-to-Head Clinical Study Against Leading MRD NGS Assay

SAN DIEGO--(BUSINESS WIRE)--Today, Inocras, a leader in whole genome sequencing (WGS) and bioinformatics, announced MRDVision, its solution for minimal residual disease (MRD) detection, validated to CLIA standards. The assay, previously available for research use only, is now ready for use in clinical settings, redefining the standard in MRD testing by enabling ultra-sensitive detection of circulating tumor DNA (ctDNA) with a simulated limit of detection (LOD) as low as 1 part per million (ppm)...

Inocras and Center for Data Driven Discovery in Biomedicine Enter Collaborative Research Agreement to Advance Sinonasal Cancer Research

SAN DIEGO--(BUSINESS WIRE)--Today, Inocras announced the signing of a groundbreaking Collaborative Research Agreement with the Center for Data Driven Discovery in Biomedicine (D3b) to advance research into rare sinonasal cancers. Under the agreement, Inocras will conduct Whole Genome Sequencing (WGS) and bioinformatic analysis on rare sinonasal cancer samples provided by D3b. The leadership team at the Center for Data Driven Discovery in Biomedicine (D3b) - Phillip “Jay” Storm, Adam Resnick, an...
Back to Newsroom