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GeneDx Fuels Rare Disease Drug Discovery With Launch of GeneDx Discover

GeneDx Fuels Rare Disease Drug Discovery With Launch of GeneDx Discover

GeneDx推出GeneDx Discover,推動罕見疾病藥物發現
GeneDx Holdings ·  11/19 13:00

New Biopharma Solution Aims to Accelerate the Delivery of Precision Medicine to More Patients

新的生物藥品解決方案旨在加快將精準醫學傳遞給更多患者

STAMFORD, Conn.--(BUSINESS WIRE)--Nov. 19, 2024--GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced GeneDx Discover, a first-of-its-kind data visualization tool, which provides biopharmaceutical companies access to deidentified and aggregated genetic data - powered by GeneDx's robust database - to improve all stages of drug development. The new offering is part of GeneDx's ongoing investment to deliver personalized and actionable health insights to inform diagnosis, direct treatment, and improve drug discovery.

康涅狄格州斯坦福德--(商業資訊)--2024年11月19日--GeneDx(納斯達克:WGS),一家通過基因組洞察提供改善健康結果的領導者,今天宣佈推出GeneDx Discover,這是一種首創的數據可視化工具,爲藥品行業板塊公司提供去身份化和聚合的遺傳數據——通過GeneDx強大的數據庫提供動力——以改善藥物開發的所有階段。此次新產品是GeneDx持續投資的一部分,旨在提供個性化和可操作的健康洞察,以便指導診斷、引導治療和改善藥物發現。

Today's drug discovery and development process is not scalable to meet society's growing needs. On average, developing a new therapy costs $2.6B, takes 12 years, and fails 90% of the time. This data represents today's long and expensive clinical development cycles that too often fail due to safety and/or efficacy issues.1,2 These high costs, lengthy development periods, and overwhelming failure rates are unsustainable, especially as science and technology advance to address critical therapy gaps both in the U.S. and globally.

如今的藥物發現和研發過程無法滿足社會不斷增長的需求。平均而言,開發一種新療法的成本爲26億美元,需要12年的時間,失敗的幾率達到90%。這些數據代表了當今長期且昂貴的臨床開發週期,往往因安全性和/或有效性問題而失敗。這些高昂的成本、漫長的研發週期和令人沮喪的失敗率是不可持續的,特別是隨着科學和技術的進步來解決美國和全球關鍵療法缺口。

Genetic data is a powerful tool that can significantly enhance the therapeutic development process, including reducing costs, accelerating timelines, and increasing success rates1. With access to genetic diagnoses continuing to expand, the impact of genetics on therapeutic development is growing. With more than 700,000 clinical exomes and genomes, GeneDx's industry leading dataset is one of the most sophisticated in the industry and can now be leveraged as a solution for biopharmaceutical companies to drive evidence-based decision making and accelerate the development of new treatments.

基因數據是一個強大的工具,可以顯著提升治療開發過程,包括降低成本、加速時間表和提高成功率。隨着對基因診斷的訪問不斷擴大,基因在治療開發中的影響日益增強。憑藉超過70萬臨床外顯子和基因組數據,GeneDx行業領先的數據集是行業中最複雜的之一,現在可以作爲生物製藥公司的解決方案,推動基於證據的決策,加速新療法的開發。

"With nearly 25 years of expertise in clinical genetic data, GeneDx holds a wealth of genetic evidence that plays a critical role in transforming patient care and unlocking new drug development opportunities," said Melanie Duquette, Chief Growth Officer at GeneDx. "GeneDx Discover is a data-driven solution that empowers our biopharma partners to better understand the genetic underpinnings of diseases, their prevalence in diverse patient populations and accelerate the development of targeted therapies—helping bring effective treatments to more patients, faster."

「擁有近25年的臨床遺傳數據專業知識,GeneDx擁有豐富的遺傳證據,在改變患者護理和開啓新藥物開發機會中起着關鍵作用,」GeneDx首席增長官Melanie Duquette表示。「GeneDx Discover是一種數據驅動的解決方案,賦予我們的生物製藥合作伙伴更好地理解疾病的遺傳基礎、在不同患者人群中的流行率,並加速有針對性療法的開發——幫助更多患者更快地獲得有效治療。」

GeneDx Discover is a self-service tool which leverages real-world data to enable a deeper understanding of the characteristics of target patient populations. The easy-to-use tool combines disease prevalence and phenotypic information, alongside variant-level details, unlocking a deeper understanding of the size and unique characteristics of the total addressable market for genetically-defined disease cohorts, and obtaining variant-level resolution to define the cohort. Through GeneDx Discover, partners have access to demographics, geographic disease distribution, variant information and the ability to filter searches by Human Phenotype Ontology (HPO) to refine cohorts based on specific phenotypic features.

GeneDx Discover是一個自助工具,利用真實數據來幫助更深入理解目標患者群體的特徵。這個易於使用的工具將疾病流行率和表型信息與變異水平的細節相結合,解鎖對基因定義疾病群體的總可尋址市場規模和獨特特徵的更深入理解,並獲得變異水平分辨率以定義群體。通過GeneDx Discover,合作伙伴可以訪問人口統計信息、地理疾病分佈、變異信息,並能夠通過人類表型本體(HPO)來篩選搜索結果,以根據特定表型特徵來細化群體。

"GeneDx's database is a powerful resource that can help drive the future of drug discovery, unlocking critical tools for target validation and understanding how these patient populations are growing," said Yael Weiss, CEO of Mahzi Therapeutics. "By accessing genetic data, we can accelerate the development of precision therapies, offering new hope for patients with rare diseases. In the pursuit of innovative treatments, the integration of genetic information is not just a step forward—it's the key to unlocking transformative, life-changing solutions."

「GeneDx的數據庫是一個強大的資源,可以推動藥物發現的未來,爲目標驗證提供關鍵工具,了解這些患者群體的增長情況,」Mahzi Therapeutics的首席執行官Yael Weiss說。「通過訪問遺傳數據,我們可以加快精準療法的研發,爲患有罕見疾病的患者提供新的希望。在追求創新治療方法時,整合遺傳信息不僅是一個進步,更是解鎖變革性、改變生活的解決方案的關鍵。」

Through its various partnerships, GeneDx collaborates with biopharmaceutical companies to increase patient access to genetic testing and speed up the development of treatments for rare diseases. Earlier this year, GeneDx launched a Patient Access Program, aimed at expanding access to exome testing for pediatric patients with unexplained epilepsy. GeneDx Discover is the latest offering from GeneDx for biopharmaceutical companies to leverage crucial genetic information that can impact patients' lives. To learn more visit .

通過與各種合作伙伴合作,GeneDx與生物製藥公司合作,增加患者接受基因檢測的機會,並加快罕見疾病治療方法的開發速度。今年早些時候,GeneDx推出了一個旨在擴大對患有不明原因癲癇的小兒接受外顯子檢測的患者的訪問的患者醫療方案。GeneDx Discover是GeneDx爲生物製藥公司提供的最新產品,可以利用關鍵的遺傳信息,影響患者的生活。要了解更多,請訪問。

About GeneDx:
GeneDx (Nasdaq: WGS) delivers personalized and actionable health insights to inform diagnosis, direct treatment, and improve drug discovery. The company is uniquely positioned to accelerate the use of genomic and large-scale clinical information to enable precision medicine as the standard of care. GeneDx is at the forefront of transforming healthcare through its industry-leading exome and genome testing and interpretation services, fueled by the world's largest, rare disease data sets. For more information, please visit and connect with us on LinkedIn, Facebook, and Instagram.

關於GeneDx:
GeneDx(納斯達克:WGS)提供個性化和可操作的健康洞察,以幫助診斷、指導治療和改善藥品發現。該公司獨特地處於一個加速基因組和大規模臨床信息使用的有利位置,使精準醫學成爲標準護理。GeneDx在通過其行業領先的外顯子組和基因組檢測及解讀服務,推動醫療保健的轉型,依託於全球最大的罕見疾病數據集。如需更多信息,請訪問並在LinkedIn、Facebook和Instagram與我們聯繫。

References:

1Minikel, E.V., Painter, J.L., Dong, C.C. et al. Refining the impact of genetic evidence on clinical success. Nature 629, 624–629 (2024)

2Paul, S., Mytelka, D., Dunwiddie, C. et al. How to improve R&D productivity: the pharmaceutical industry's grand challenge. Nat Rev Drug Discov 9, 203–214 (2010)

參考文獻:

Minikel, E.V., Painter, J.L., Dong, C.C.等人。細化遺傳證據對臨床成功的影響。《自然》629, 624–629 (2024)

Paul, S., Mytelka, D., Dunwiddie, C.等人。如何提高研發生產力:藥品行業板塊的重大挑戰。《自然評論-藥物發現》9, 203–214 (2010)

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Source: GeneDx

來源:GeneDx

譯文內容由第三人軟體翻譯。


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