ILLUMINA
February 19, 2021 -- Illumina, Inc. (Nasdaq: ILMN) today announced an agreement with the Institute of Medical Genetics and Applied Genomics at the University Hospital of Tübingen to assess the value of whole-genome sequencing (WGS) as a first-line diagnostic test for patients with genetic diseases and familial cancer syndromes. Illumina will support the new investigator-initiated study, called the Ge-Med Project, with sequencing, analysis and health economic expertise.
The Institute is the first laboratory in Germany accredited to perform clinical WGS. Previously, it used whole exome sequencing for the diagnosis of rare disease conditions which involves sequencing only around 1% of the genome known to contain the coding regions that provide instructions for making proteins.
The move to WGS is based on a two-year feasibility study by the Institute, supported by Illumina, which found that WGS provided improved diagnosis across a range of rare diseases. For example, as many as 75% of genetic eye diseases were accurately diagnosed using WGS, including some forms of disease that could only be identified by sequencing the entire genome. Similar results were found for rare childhood cancers and for conditions that cause developmental delay in children.
In addition to expanding the range of conditions for diagnosis, the new study will examine the ability of WGS to generate scores for the risk of common diseases based on genomic data. Known as a polygenic risk score, this will help identify individuals that may benefit from personalized healthcare management.
“We are delighted to be able to study whole genome sequencing as a diagnostic in an expanded range of conditions because we have demonstrated that it changes the management of patients who previously remained unresolved after whole exome and other sequencing approaches,” said Tobias Haack, Head of Molecular Diagnostics at the Institute of Medical Genetics and Applied Genomics, University Hospital of Tübingen.
“We are proud to support the University Hospital of Tübingen on this important step in their genomic work,” said Dr. Phil Febbo, Chief Medical Officer, Illumina. “Offering a clear diagnosis as well as disease risk for common conditions will give patients peace of mind and offer actionable steps to improve their overall health.”
Professor Olaf Rieß said, “We know that the exome isn’t the whole story when looking for answers to rare diseases and we have proven the value that WGS brings to families who otherwise would wait years for a diagnosis, or may never even receive one. Through the new study, we hope to help Germany lead the way in applying cutting edge genomics to improve healthcare.”
About Illumina
Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as the global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments. To learn more, visit www.illumina.com and connect with us on Twitter , Facebook , LinkedIn , Instagram , and YouTube .
View source version on businesswire.com: https://www.businesswire.com/news/home/20210218006118/en/
Link:
About Business Wire
Subscribe to releases from Business Wire
Subscribe to all the latest releases from Business Wire by registering your e-mail address below. You can unsubscribe at any time.
Latest releases from Business Wire
Thales Launches AI Security Fabric, Providing AI Runtime Security for Agentic AI and LLM-Powered Applications11.12.2025 09:00:00 CET | Press release
Thales launches its new AI Security Fabric, delivering the first runtime security capabilities designed to protect Agentic AI, LLM-powered applications, enterprise data, and identities.New capabilities address emerging AI-specific threats—including prompt injection, data leakage, model manipulation, and insecure RAG pipelines—helping organizations innovate safely while maintaining compliance.With upcoming 2026 enhancements, Thales aims to provide a comprehensive security layer for AI ecosystems, enabling enterprises to confidently scale AI adoption across cloud and on-premises environments. AI is one of the fastest-growing technologies in the history of modern business, with the ability to revolutionize industries, optimize operations, and drive innovation, but it is also introducing security gaps, risks, and vulnerabilities. According to McKinsey, 78% of organizations are using AI in at least one business function, up from 55% two years ago. As a result, 73% of them are investing in A
Interactive Brokers Adds Access to Brazil’s B3 Exchange11.12.2025 09:00:00 CET | Press release
Interactive Brokers (Nasdaq: IBKR), an automated global electronic broker, today announced that eligible clients outside of Brazil can now trade Brazilian equities through B3, the Brazil Stock Exchange. This expansion gives investors more ways to access emerging market opportunities across Latin America alongside global stocks, options, futures, currencies, bonds, funds, and more through a single unified platform. The B3 Exchange is one of the most active and liquid markets in the region. With this addition, investors will have direct access to trade Brazilian equities, plus over 160 markets worldwide using Interactive Brokers’ powerful trading platforms and tools. “Global investors need seamless access to diverse markets to stay competitive,” said Milan Galik, Chief Executive Officer of Interactive Brokers. “By adding Brazil’s B3 Exchange, we’re giving our clients efficient, low-cost access to one of the world’s most dynamic emerging economies through our unified global platform.” Int
Kyowa Kirin Announces Proposed Appointment of Abdul Mullick to President and Chief Executive Officer, While Former CEO Masashi Miyamoto to Remain Chairman11.12.2025 08:30:00 CET | Press release
Leadership Changes to Take Effect Following Conclusion of Ordinary General Meeting of Shareholders in March 2026Announcement Follows Year of Dual CEO / COO Model and Returns Company to Single Leader Structure Kyowa Kirin Co., Ltd. (TSE:4151, Kyowa Kirin), a Japan-based global specialty pharmaceutical company, today announced the Board of Directors’ decision to appoint Abdul Mullick, Ph.D., currently President and Chief Operating Officer (COO), to the role of President and Chief Executive Officer (CEO). The appointment will become effective March 2026 following the conclusion of the Ordinary General Meeting of Shareholders. As Mullick takes on the role of President and CEO for Kyowa Kirin, current CEO Masashi Miyamoto, Ph.D., remains Chairman. In March 2025, shareholders approved a dual CEO / COO model, with Mullick appointed to the newly created role of Chief Operating Officer, partnering with Miyamoto to lead the global organisation. The model provided a transition period for Mullick
Galderma Announces First Patient Enrollment in Study to Assess Nemolizumab in Adults With Chronic Pruritus of Unknown Origin11.12.2025 07:00:00 CET | Press release
Chronic Pruritus of Unknown Origin (CPUO) is characterized by a persistent, chronic itch with an unknown cause and is associated with very high burden of disease due to severe itch, sleep deprivation and mental distress1 Galderma’s phase II study builds on emerging research that reinforces the role of IL-31 – a neuroimmune cytokine that is involved in driving itch – in CPUO1 Nemolizumab is a monoclonal antibody that specifically targets the IL-31 receptor alpha, inhibiting the signaling of IL-312 It is approved by multiple regulatory authorities for the treatment of moderate-to-severe atopic dermatitis and prurigo nodularis – conditions in which IL-31 plays a key role in driving itch, inflammation, epidermal dysregulation, and, in prurigo nodularis, fibrosis2-6 Galderma (SIX: GALD), the pure-play dermatology category leader, today announced the first patient enrollment for its phase II study investigating the efficacy and safety of nemolizumab in treating patients living with Chronic P
Ant International and HSBC Test New Cross-Border Payments Solution Using Tokenised Deposits on Swift’s Network and Powered by ISO 2002211.12.2025 04:00:00 CET | Press release
ISO 20022-enabled solution allows blockchain interoperability on Swift’s network, using Ant International’s technology and HSBC’s Tokenised Deposit Service Integration with Swift’s network extends AML and anti-fraud capabilities to tokenised deposits transactions Proof of concept (POC) marks a step towards enabling seamless money movement across borders Ant International, HSBC and Swift today have completed a successful Proof of Concept (POC) for the cross-border transfer of tokenised deposits using ISO 20022 standards. The initiative leverages Swift’s global messaging network and HSBC’s recently launched Tokenised Deposit Service, combined with Ant International’s blockchain technology. The POC marks a key milestone in Ant International, HSBC, and Swift’s efforts to help businesses unlock the full benefits of tokenisation for enhanced liquidity, programmable finance, and 24/7 real-time settlement. As part of this initiative, Ant International and HSBC successfully integrated Ant Inter
In our pressroom you can read all our latest releases, find our press contacts, images, documents and other relevant information about us.
Visit our pressroom