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

基本信息

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
项目类别：
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

项目摘要

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.

项目摘要 Isabl Inc.是一个纪念斯隆·克特林（Sloan Kettering）癌症中心，旨在发起癌症整个基因组和转录组测序（CWGTS）小儿诊断测试癌症患者。该SBIR的产物是Isabl GXT，这是一个精确的医学平台将CWGTS数据纳入强大的数据科学框架，以实现临床可行的在临床相关的时间范围内报告，并促进了肿瘤学中新型的生物标志物发现。 Isabl产生了明显的可行性和临床实用性数据，并获得了突破 FDA的设备名称。该项目的目的是：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测量类型的实用性。长期目标是授权肿瘤学带有一项综合癌症测试。