ILLUMINA
19.2.2021 07:02:13 CET | Business Wire | Press release
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
AI Meets Traditional Culture: Huangshan Captures Widespread Attention at ITB Berlin7.3.2026 10:22:00 CET | Press release
Huangshan, one of China’s most iconic scenic destinations, drew significant attention at this year’s ITB by presenting a compelling fusion of traditional Chinese culture and cutting-edge artificial intelligence under the slogan “The world of Huangshan is for the world.” This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20260307909978/en/ International visitor admires Huangshan cultural and creative exhibits at the Huangshan stand during ITB Berlin. Located in eastern China’s Anhui Province, Huangshan is famed for its “Five Natural Wonders” — fantastic pines, grotesque rocks, sea of clouds, hot spring and winter snow. The mountain is widely regarded as one of China’s greatest mountain landscapes. It is also a rare natural heritage site that simultaneously holds multiple international designations, including UNESCO World Cultural and Natural Heritage status, a UNESCO Global Geopark and a World Biosphere Reserve. At ITB, the Huangsh
Incyte Announces the European Commission Approval of Zynyz® (retifanlimab) for the First-Line Treatment of Advanced Squamous Cell Carcinoma of the Anal Canal (SCAC)6.3.2026 22:42:00 CET | Press release
- Zynyz® (retifanlimab) in combination with carboplatin and paclitaxel (platinum-based chemotherapy) is the first systemic treatment for adult patients with advanced SCAC in Europe- The EC approval is based on results of the POD1UM-303 study which showed that adult patients with advanced SCAC achieved significantly improved progression-free survival with Zynyz in combination with carboplatin and paclitaxel as a first-line treatment compared to chemotherapy alone.1 Incyte (Nasdaq:INCY) today announced that the European Commission (EC) has approved Zynyz® (retifanlimab) in combination with carboplatin and paclitaxel (platinum-based chemotherapy) for the first-line treatment of adult patients with metastatic or with inoperable locally recurrent squamous cell carcinoma of the anal canal (SCAC). “The EC approval of Zynyz marks an important step forward for patients with advanced SCAC, a rare cancer for which meaningful treatment advances have not occurred in several decades,” said Bill Meur
Dfns Launches Payouts6.3.2026 21:27:00 CET | Press release
Dfns today announced the launch of Payouts, a new API enabling institutions to convert stablecoins to fiat and route payouts across multiple bank accounts while keeping wallet-level governance and controls in place. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20260305327930/en/ Convert stablecoins to fiat and settle payouts to bank accounts in 94 countries, today. Solving the problem of single-rail off-ramps Today, most fintechs and institutions still hard-wire a single payout provider into their stack, or rely on vertically integrated models that bundle routing, pricing, custody, and settlement together. That approach may be convenient early on, but it creates structural problems at scale: weak price discovery because there is no competitive pressure on margins, limited auditability because routing decisions are opaque, and operational fragility because a single provider degradation in any corridor requires architectural i
Klarna Group Plc Clarifies Mechanics of March 9 Lock-Up Expiration6.3.2026 20:23:00 CET | Press release
Klarna Group plc (NYSE: KLAR) today issues the following clarification to ensure investors and market participants have accurate information regarding the mechanics of its lock-up expiration on March 9, 2026, the processes required before pre-IPO shares can be traded on the NYSE, and the prior liquidity opportunities already available to shareholders. This release contains only factual descriptions of the Company's share structure and applicable processes. It does not constitute guidance or a projection of any kind regarding future trading volumes, share price, or the intentions of any shareholder and speaks only as of the date of this press release. 1. 335 million locked-up shares — but two different categories Of the 378 million total ordinary shares outstanding, approximately 335 million are subject to lock-up restrictions expiring March 9, 2026. However, these shares fall into two distinct categories governed by separate sets of regulations. A. 159 million shares (48% of locked-up
Lone Star Funds Announces Agreement to Acquire the Capsules & Health Ingredients Division of Lonza Group AG6.3.2026 18:30:00 CET | Press release
Lone Star Funds (“Lone Star”) today announced that an affiliate of Lone Star Fund XII, L.P. has entered into a definitive agreement to acquire the Capsules & Health Ingredients (“CHI”) division of Lonza Group AG. As part of the transaction, Lonza will retain a 40% equity position in the business. Headquartered in Basel, Switzerland, CHI operates globally across the Americas, Europe and Asia Pacific. The business comprises three segments: Hard Empty Capsules: leading global manufacturer of gelatin and plant-based capsules offering a broad range of innovative solutions for pharmaceutical and nutraceutical customers. Dosage Form Solutions: end-to-end development and manufacturing platform serving nutraceutical and pharmaceutical customers. Health Ingredients: provider of branded, science-backed nutrition ingredients serving joint health, energy and active lifestyle markets. Lone Star believes CHI is a high-quality, globally recognized platform with strong technical capabilities, different
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