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
Andersen Global styrker sine juridiske kapaciteter med tilføjelsen af brasiliansk medlemsfirma11.12.2025 18:49:00 CET | Pressemeddelelse
Andersen Global udbygger sin juridiske platform i Brasilien, da Lotti e Araújo bliver et medlemsfirma, hvilket styrker organisationens kapacitet i Latinamerika. Lotti e Araújo blev stiftet for over 20 år siden og tilbyder omfattende juridisk rådgivning til brasilianske og multinationale klienter inden for en lang række brancher. Dets tværfaglige praksis omfatter selskabsret, skatteret, arbejdsret, retssager, inkasso og inddrivelse af gæld – samt specialiseret arbejde med at identificere skjulte aktiver og inddrive anke- og retsindskud i ældre sager. Firmaet håndterer også voldgift, forvaltningsret, udenlandske investeringer, fast ejendom, intellektuel ejendomsret, databeskyttelse og virksomhedsomstrukturering og tilbyder juridisk assistance inden for selskabsdannelse og repræsentation over for tilsynsmyndigheder. Teamet rådgiver klienter om forebyggende juridiske strategier og komplekse tvister for administrative organer og domstole i Brasilien. "Hos Lotti e Araújo bygger vores praksis
BEYOND Developments Reveals a New Vision for Purposeful Living on Dubai Islands with SIORA11.12.2025 18:02:00 CET | Press release
A 2M sqft masterplan inspired by Japanese garden principles, crafted around balance, clarity, and the quiet rhythm of coastal life BEYOND Developments, the bold and design-led real estate developer shaping next-generation waterfront destinations in the UAE, today unveiled SIORA, its first beachfront masterplan on Dubai Islands and the company’s second large-scale community within a year. The launch underscores BEYOND’s accelerated growth and strong alignment with Dubai’s future urban vision. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20251211014389/en/ BEYOND Developments - SIORA Masterplan at sunset - Dubai Islands (Photo: AETOSWire) Spanning over 2M square feet, SIORA is conceived as a coastal sanctuary inspired by Japanese garden philosophies, including the pursuit of Ikigai, the Japanese concept of finding purpose and fulfilment in everyday life. In this context, it reflects a philosophy of creating spaces that bring c
3Degrees Welcomes David Dines to Board of Directors11.12.2025 17:00:00 CET | Press release
3Degrees, a global leader in renewable energy and climate solutions, is pleased to announce the appointment of David Dines to its Board of Directors, effective December 8, 2025. Dines brings more than four decades of leadership experience across global energy, commodities, financial services, transportation, and industrial markets. He served on the executive team as Chief Financial Officer and Corporate Senior Vice President at Cargill, Inc., the largest privately held company in the United States, where he oversaw enterprise-wide financial strategy, capital deployment, and financial performance. During his 29-year career at Cargill, Dines led multiple global businesses, played key roles in major technology and process transformations, and was a member of Cargill’s Commodity Risk, Financial Risk, and Process, Data, and Technology Committees. “We are thrilled to welcome David to the 3Degrees board,” said Philippe Vedrenne, CEO, 3Degrees. “He has an exceptional command of financial stewa
ITC Infotech wins PTC Partner Network Award for FY25 in the PLM Category11.12.2025 15:40:00 CET | Press release
ITC Infotech’s DxP Services earns recognition for its strong PLM expertise, unwavering commitment to delivering customer value, and strategic collaboration with PTC to drive innovation through SaaS-led offerings and accelerate digital transformation for customers. ITC Infotech, a leading global technology services and solutions provider, has been awarded the PTC Partner Network Award for FY25 in the Product Lifecycle Management (PLM) category. This prestigious recognition, awarded to a single partner globally, celebrates excellence in deploying Enterprise PLM software, enabling global and cross-functional teams to effectively manage product data and providing a trusted system for product information. The award underscores ITC Infotech’s leadership in PLM-led digital transformation, as well as its strategic alignment with PTC’s Intelligent Product Lifecycle vision, which helps customers build a structured product data foundation that serves as the backbone for AI-driven transformation.
1X Announces Strategic Partnership to Make up to 10,000 Humanoid Robots Available to EQT’s Global Portfolio11.12.2025 15:00:00 CET | Press release
1X, the AI and robotics company behind NEO, the first ready-to-ship humanoid robot, today announced a strategic partnership with EQT, one of the world’s largest private equity firms and an investor in 1X through EQT Ventures. The partnership marks the beginning of what could become a large-scale commercial rollout of general-purpose humanoid robots across multiple industries. Together, 1X and EQT have a shared intent to facilitate the rollout of up to 10,000 humanoids across EQT’s global portfolio companies between 2026 and 2030, with any potential implementation decision ultimately taken by each portfolio company. The partnership represents an early step in bringing humanoid robotics into mainstream commercial use. Through this collaboration, EQT’s portfolio companies will gain early access to 1X’s commercial production capacity and integration expertise, giving early adopters a first-mover advantage in addressing structural workforce transformation. The partnership will focus on high
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