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 Consulting udvider sit udbud med LBC12.12.2025 11:09:00 CET | Pressemeddelelse
Andersen Consulting styrker sine kompetencer gennem en samarbejdsaftale med LBC, en Portugal-baseret international virksomhed kendt for sin integrerede tilgang til forretningsoptimering, digital transformation og udvikling af menneskelig kapital, der kombinerer kreativitet og menneskelig etik med ai med henblik på at accelerere værdiskabelse. LBC blev stiftet i 2001 og bistår internationale organisationer, offentlige instanser og virksomheder inden for adskillige brancher, herunder finans, energi, TMT, transport og den offentlige sektor. LBC betjener kunder i Afrika, Nord- og Sydamerika samt Europa og leverer ydelser inden for management consulting, digital transformation, kapacitetsopbygning og ai-implementering. Virksomheden er kendt for en kultur præget af innovativ transformation med fokus på vedvarende resultater og hjælper kunder med at navigere i komplekse forandringer med målbar effekt. Nylige investeringer i enterprise AI styrker virksomhedens kompetencer inden for UX/UI, auto
INNIO to Supply Technology for a Landmark Project in Texas, Reinforcing Grid Stability12.12.2025 09:59:00 CET | Press release
INNIO Group, a leading energy solution and service provider, is collaborating with the U.S. power utility Greenville Electric Utility System (GEUS) on a landmark 104-megawatt (MW) power plant. The new plant is designed to help reinforce grid stability, cover peak loads, and enable greater integration of renewable energy. This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20251211712708/en/ Jenbacher J920 FleXtra “This project is a milestone for Texas and for INNIO. With fast-start capability, flexibility, and sustainability, we are creating the energy infrastructure that modern grids need: reliable, growth-promoting, and supporting the expansion of renewables,” said Dr. Olaf Berlien, President and CEO of INNIO Group. Groundbreaking for the plant’s construction took place in early December, with commissioning scheduled for summer 2027. The groundbreaking marks the beginning of the largest installation to date of Jenbacher J920 FleX
Kioxia Develops Core Technology that Will Allow the Practical Implementation of High-density, Low-power 3D DRAM12.12.2025 06:24:00 CET | Press release
Showcase the technology of highly stackable oxide-semiconductor channel transistors Kioxia Corporation, a world leader in memory solutions, today announced the development of highly stackable oxide-semiconductor channel transistors that will enable the practical implementation of high-density, low-power 3D DRAM. This technology was presented at the IEEE International Electron Devices Meeting (IEDM) held in San Francisco, USA, on December 10, and has the potential to reduce power consumption across a wide range of applications, including AI servers and IoT components. In the era of AI, there is growing demand for DRAM with larger capacity and lower power consumption that can process large amounts of data. Traditional DRAM technology is reaching the physical limits of memory cell size scaling, prompting research into the 3D stacking of memory cells to provide additional capacity. The use of single-crystal silicon as the channel material for transistors in stacked memory cells, as is the
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
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