Isabl GxT: A clinically actionable whole genome and transcriptome precision medicine platform

Isabl GxT：临床上可操作的全基因组和转录组精准医学平台

• 批准号: 10697472
• 负责人: Juan Santiago Medina
• 金额: $ 104.15万
• 依托单位: ISABL INC.
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-04-01 至 2025-03-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10697472
• 关键词: Academic Medical Centers; Address; Authorization documentation; Bioinformatics; Biological Assay; Biological Markers; Breakthrough device; Cancer Patient; Caring; Clinical; Clinical Research; Cloud Computing; Commercial grade; DNA; Data; Data Science; Data Set; Development; Diagnosis; Diagnostic; Diagnostic tests; FDA approved; Formalin; Fresh Tissue; Genetic; Genetic Markers; Genome; Goals; Grant; Infrastructure; Knowledge; Laboratories; Malignant Childhood Neoplasm; Malignant Neoplasms; Marketing; Memorial Sloan-Kettering Cancer Center; Modality; Mutation; Oncology; Outcome; Outcome Study; Paraffin Embedding; Patients; Phase; Physicians; Positioning Attribute; Process; RNA; Reporting; Reproducibility; Research; Sampling; Signal Transduction; Small Business Innovation Research Grant; Testing; Therapeutic; Training; Variant; algorithm development; authority; biomarker discovery; biomarker driven; cancer diagnosis; cancer genome; clinically actionable; clinically relevant; commercial application; companion diagnostics; complex data; cost; cost effective; data integration; design; detection limit; diagnostic strategy; empowerment; gene panel; genome sequencing; improved outcome; large scale data; mortality; multimodality; novel marker; pediatric patients; phase 2 study; precision medicine; prospective; rare cancer; research and development; research study; sample fixation; technological innovation; transcriptome; transcriptome sequencing; treatment planning; tumor; tumor heterogeneity; validation studies; whole genome

Project Summary Isabl Inc. is a Memorial Sloan Kettering Cancer Center spin out, aiming to launch a cancer whole genome and transcriptome sequencing (cWGTS) diagnostic test for pediatric and rare cancer patients. The product of this SBIR is Isabl GxT, a precision medicine platform that incorporates cWGTS data into a robust data science framework to enable clinically actionable reporting in a clinically relevant timeframe and facilitate novel biomarker discovery in oncology. Isabl has generated significant feasibility and clinical utility data and obtained breakthrough device designation by the FDA. The aims of this project are: 1) perform analytical and clinical validity studies, 2) develop a commercial grade clinical bioinformatics platform, and 3) extend utility of the existing test to additional biospecimen types. The long-term objective is to empower oncology with one comprehensive cancer test.

项目概要 Isabl Inc. 是纪念斯隆凯特琳癌症中心的分拆公司，旨在推出一种癌症药物 适用于儿科和罕见病的全基因组和转录组测序 (cWGTS) 诊断测试 癌症患者。此次SBIR的产品是Isabl GxT，一个精准医疗平台， 将 cWGTS 数据纳入强大的数据科学框架，以实现临床可操作 在临床相关的时间范围内进行报告，并促进肿瘤学中新型生物标志物的发现。 Isabl 产生了重要的可行性和临床实用数据并取得了突破 FDA 的设备指定。该项目的目标是：1）进行分析和临床 有效性研究，2) 开发商业级临床生物信息学平台，3) 扩展 现有测试对其他生物样本类型的效用。长期目标是增强能力 肿瘤学，通过一项综合癌症测试。