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Ambry Genetics and PacBio Announce Collaboration to Sequence Up to 7,000 Human Genomes Aimed at Providing Answers for Families Battling Rare Diseases

Ambry Genetics and PacBio Announce Collaboration to Sequence Up to 7,000 Human Genomes Aimed at Providing Answers for Families Battling Rare Diseases

Ambry Genetics和PacBio宣佈合作對多達7,000個人類基因組進行測序,旨在爲與罕見疾病作鬥爭的家庭提供答案

Consortium Selects Leading Genomics Companies to Support Pediatric Mendelian Genomics Research Center Program

聯盟選擇領先的基因組公司來支持兒科孟德爾基因組學研究中心計劃

ALISO VIEJO, Calif. and MENLO PARK, Calif., May 15, 2024 /PRNewswire/ --Ambry Genetics, a prominent leader in clinical genomic testing and a subsidiary of REALM IDx, Inc., along with PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced their companies' selection by the University of California, Irvine (UCI) and the GREGoR Consortium (Genomics Research to Elucidate the Genetics of Rare diseases) to support the Pediatric Mendelian Genomics Research Center (MGRC) program to better understand the underlying biology of rare diseases.

加利福尼亞州阿里索維耶霍和加利福尼亞州門洛帕克,2024年5月15日 /PRNewswire/ — 臨床基因組測試領域的傑出領導者、REALM iDx, Inc. 的子公司Ambry Genetics以及高質量、高精度測序解決方案的領先開發商PacBio(納斯達克股票代碼:PACB)今天宣佈了加州大學爾灣分校(UCI)和Gregor的公司選擇聯盟(闡明罕見疾病遺傳學的基因組學研究)將支持兒科孟德爾基因組學研究中心(MGRC)計劃,以更好地了解潛在疾病罕見疾病的生物學。

The GREGoR Consortium is a National Institutes of Health-funded collaborative effort which aims to transform the landscape of Mendelian disease research by identifying the underlying genetic cause of rare disease in samples from individuals for whom prior genomic analysis did not yield answers. This ambitious research, among the largest programs of its kind, will use long-read sequencing technology to sequence and analyze up to 7,000 human whole genomes over three years, with a focus on developing new insights into rare disease etiology.

Gregor Consortium 是一項由美國國立衛生研究院資助的合作項目,旨在通過在先前基因組分析未得出答案的個體樣本中確定罕見疾病的潛在遺傳原因,從而改變孟德爾病研究的格局。這項雄心勃勃的研究是同類項目中規模最大的項目之一,它將在三年內使用長讀測序技術對多達7,000個人類全基因組進行測序和分析,重點是開發對罕見病病因學的新見解。

"There remain a multitude of rare diseases that are difficult to diagnose, and for which effective treatments remain elusive," said Eric Vilain M.D., Ph.D., director of the Institute for Clinical and Translational Science and the associate vice chancellor for Clinical and Translational Science at UCI. "Our research endeavors aim to shed light on these complexities, revealing insights that legacy technologies struggle to uncover. Collaborating with our partners at Ambry Genetics and PacBio, we are poised to enhance our comprehension of rare diseases and in the future revolutionize diagnostic capabilities. This collaborative effort is designed to offer hope not only to families in our study, but to all families looking to unlock answers for children facing rare diseases."

UCI臨床與轉化科學研究所所長、臨床與轉化科學副校長埃裏克·維蘭博士說:“仍有許多罕見疾病難以診斷,而且仍然難以獲得有效的治療方法。”“我們的研究工作旨在闡明這些複雜性,揭示傳統技術難以發現的見解。我們與Ambry Genetics和PacBio的合作伙伴合作,有望增強對罕見疾病的理解,並在未來徹底改變診斷能力。這項合作不僅旨在爲參與我們研究的家庭帶來希望,也爲所有希望爲面臨罕見疾病的兒童解開答案的家庭帶來希望。”

This pioneering initiative unites leading genomics researchers who will work collaboratively to incorporate innovative methods for understanding the biology of rare disease including phenotyping, variant identification, and functional analysis of both coding and non-coding sequence alterations. By using highly accurate 5-base, long-read sequencing technology, the researchers hope to discover new rare variants and to understand the role of epigenomics on disease manifestation. By building new analysis pipelines for these genomic and epigenomic data, the researchers hope to discover new Mendelian gene variations and to better categorize previously identified variants of unknown significance.

這項開創性計劃將領先的基因組學研究人員團結起來,他們將共同努力,採用創新的方法來理解罕見疾病的生物學,包括表型分型、變異識別以及編碼和非編碼序列變化的功能分析。通過使用高度精確的5鹼基長讀測序技術,研究人員希望發現新的罕見變體,並了解表觀基因組學對疾病表現的作用。通過爲這些基因組和表觀基因組數據建立新的分析渠道,研究人員希望發現新的孟德爾基因變異,並更好地對先前發現的意義未知的變異進行分類。

"Over the past few years, we've collaborated with leading genomics researchers around the world to advance the scientific community's understanding of the genomic basis of rare disease," said Christian Henry, President and Chief Executive Officer of PacBio. "This project with the GREGoR team represents a significant step forward for us. We hope that by partnering with scientists at U.C. Irvine and geneticists from Ambry Genetics, we will not only be able to help families better understand the underlying causes of rare disease, but also to identify new analysis pipelines that can speed this process for other labs."

PacBio總裁兼首席執行官克里斯蒂安·亨利說:“在過去的幾年中,我們與全球領先的基因組學研究人員合作,以增進科學界對罕見疾病基因組基礎的理解。”“這個與Gregor團隊合作的項目對我們來說是向前邁出的重要一步。我們希望,通過與加州大學爾灣分校的科學家和Ambry Genetics的遺傳學家合作,我們不僅能夠幫助家庭更好地了解罕見疾病的根本原因,而且能夠確定新的分析渠道,從而加快其他實驗室的這一過程。”

"Through this collaboration, we will continue to advance the scientific community's understanding of rare disease and to support both patients enrolled in this study and others whose exomes were sequenced previously through our Patient for Life program," said Tom Schoenherr, CEO of Ambry Genetics. "This collaboration is an example of our steadfast commitment to excellence in genomics and relentless pursuit of innovation, which has been a driving force behind our work since we launched our first clinical offering for rare disease diagnosis more than 20 years ago."

Ambry Genetics首席執行官湯姆·舍恩赫爾表示:“通過這種合作,我們將繼續增進科學界對罕見疾病的理解,併爲參加這項研究的患者以及之前通過我們的患者換生命計劃對外顯子組進行測序的其他患者提供支持。”“這種合作體現了我們對卓越基因組學的堅定承諾和對創新的不懈追求,自20多年前我們推出首款罕見病診斷臨床產品以來,這一直是我們工作的推動力。”

For more information, visit the GREGoR Consortium.

欲了解更多信息,請訪問 格雷戈爾聯盟

About Ambry Genetics
Ambry Genetics, a subsidiary of REALM IDx, Inc., translates scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. It is a leader in genetic testing that aims to improve health by understanding the relationship between genetics and disease. Its unparalleled track record of discoveries over 20 years, and growing database that continues to expand in collaboration with academic, corporate, and pharmaceutical partners, means Ambry Genetics is first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions.

關於 Ambry Genetics
REALM IDx, Inc. 的子公司Ambry Genetics基於對人類基因組和遺傳病背後的生物學的深刻理解,將科學研究轉化爲臨床上可操作的測試結果。它是基因檢測領域的領導者,旨在通過了解遺傳學與疾病之間的關係來改善健康狀況。Ambry Genetics擁有20多年的無與倫比的發現記錄,以及與學術、企業和製藥合作伙伴合作不斷擴大的數據庫,這意味着Ambry Genetics率先將創新產品和全面分析推向市場,使臨床醫生能夠自信地爲患者健康決策提供信息。

About PacBio
PacBio (NASDAQ: PACB) is a premier life science technology company that designs, develops and manufactures advanced sequencing solutions to help scientists and clinical researchers resolve genetically complex problems. Our products and technologies stem from two highly differentiated core technologies focused on accuracy, quality and completeness which include our HiFi long-read sequencing and our SBB short-read sequencing technologies. Our products address solutions across a broad set of research applications including human germline sequencing, plant and animal sciences, infectious disease and microbiology, oncology, and other emerging applications. For more information, please visit www.pacb.com and follow @PacBio.

關於 PacBio
PacBio(納斯達克股票代碼:PACB)是一家首屈一指的生命科學技術公司,設計、開發和製造先進的測序解決方案,以幫助科學家和臨床研究人員解決複雜的基因問題。我們的產品和技術源自兩項高度差異化的核心技術,側重於準確性、質量和完整性,其中包括我們的HiFi長讀測序和我們的SBB短讀測序技術。我們的產品爲廣泛的研究應用提供解決方案,包括人類種系測序、動植物科學、傳染病和微生物學、腫瘤學和其他新興應用。欲了解更多信息,請訪問 www.pacb.com 然後關注 @PacBio。

PacBio products are provided for Research Use Only. Not for use in diagnostic procedures.

PacBio 產品僅供研究使用。不適用於診斷程序。

Forward-Looking Statements
This press release may contain "forward-looking statements" within the meaning of Section 21E of the Securities Exchange Act of 1934, as amended, and the U.S. Private Securities Litigation Reform Act of 1995. All statements other than statements of historical fact are forward-looking statements, including statements relating to the uses, coverage, advantages, quality or performance of, or benefits or expected benefits of using, PacBio products or technologies; anticipated number of whole human genomes to be sequenced in the collaboration and related discoveries in rare disease research; and other future events. You should not place undue reliance on forward-looking statements because they are subject to assumptions, risks, and uncertainties and could cause actual outcomes and results to differ materially from currently anticipated results, including, challenges inherent in sequencing a large number of whole human genomes, and the difficulty of generating discoveries across various areas of research; unanticipated increases in costs or expenses; interruptions or delays in the supply of components or materials for, or manufacturing of, PacBio products and products under development; potential product performance and quality issues; third-party claims alleging infringement of patents and proprietary rights or seeking to invalidate PacBio's patents or proprietary rights; and other risks associated with international operations. Additional factors that could materially affect actual results can be found in PacBio's most recent filings with the Securities and Exchange Commission, including PacBio's most recent reports on Forms 8-K, 10-K, and 10-Q, and include those listed under the caption "Risk Factors." These forward-looking statements are based on current expectations and speak only as of the date hereof; except as required by law, PacBio disclaims any obligation to revise or update these forward-looking statements to reflect events or circumstances in the future, even if new information becomes available.

前瞻性陳述
本新聞稿可能包含經修訂的1934年《證券交易法》第21E條和1995年《美國私人證券訴訟改革法》所指的 “前瞻性陳述”。除歷史事實陳述以外的所有陳述均爲前瞻性陳述,包括與PacBio產品或技術的用途、覆蓋範圍、優勢、質量或性能,或使用PacBio產品或技術的益處或預期收益有關的陳述;在罕見病研究的合作和相關發現中預計測序的全人類基因組數量;以及其他未來事件。您不應過分依賴前瞻性陳述,因爲前瞻性陳述受假設、風險和不確定性的影響,並可能導致實際結果和結果與當前預期的結果存在重大差異,包括對大量全人類基因組進行測序所固有的挑戰,以及難以在各個研究領域得出發現;成本或開支的意外增加;PacBio產品的組件或材料供應或製造中斷或延遲以及以下的產品開發;潛在的產品性能和質量問題;指控侵犯專利和專有權利或試圖使PacBio的專利或專有權利無效的第三方索賠;以及與國際運營相關的其他風險。可能對實際業績產生重大影響的其他因素可以在PacBio最近向美國證券交易委員會提交的文件中找到,包括PacBio關於8-K、10-K和10-Q表的最新報告,以及在 “風險因素” 標題下列出的報告。這些前瞻性陳述基於當前的預期,僅代表截至本文發佈之日;除非法律要求,否則PacBio不承擔任何修改或更新這些前瞻性陳述以反映未來事件或情況的義務,即使有新信息也是如此。

Contacts

聯繫人

For Ambry Genetics:
Gwen Gordon
Gwen@gwengordonpr.com

對於 Ambry Genetics:
格溫·戈登
Gwen@gwengordonpr.com

For PacBio:
Investors:
Todd Friedman
ir@pacificbiosciences.com

對於 PacBio 來說:
投資者:
託德·弗裏德曼
ir@pacificbiosciences.com

SOURCE Pacific Biosciences of California, Inc.

來源 Pacific Biosciences 加利福尼亞公司

譯文內容由第三人軟體翻譯。


以上內容僅用作資訊或教育之目的,不構成與富途相關的任何投資建議。富途竭力但無法保證上述全部內容的真實性、準確性和原創性。
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