Twist and Centogene Collaborate to Better Diagnose Rare Diseases

Centogene’s CentoMD® rare disease variant database will be integrated into Qiagen’s bioinformatics suite in a rare disease bioinformatics collaboration by the companies. [Source: alengo/Getty]

Twist Bioscience will partner with German rare-disease diagnostics biotech Centogene to develop high-quality, rapid tests for rare diseases.

Centogene is already a specialist in rare-disease genetics and diagnostics, but plans to use U.S.-based Twist’s library preparation and target enrichment capabilities to help produce new tests.

Specific target enrichment panels, as produced by Twist using its synthetic DNA technology, are useful for rare-disease diagnostic design. Rather than sequencing a whole sample, the panel allows only very specific sections of the DNA to be sequenced, thus speeding up the process and making it more efficient.

Centogene, in turn, will contribute its vast knowledge of rare diseases and data from its large Bio/Databank, which contains blood samples from around 600,000 rare-disease patients from 120 countries.

As many as 1 in 15 individuals are diagnosed with a rare disease each year. The two companies plan to develop and commercialize custom assay test kits for rare diseases, which they hope will make testing more accessible to patients.

Information collected in test development will also add to Centogene’s biobank and help power future research in this area.

“Not only will this help to provide patients with quicker and more comprehensive answers today, but it will generate insights to advance the precision medicine of tomorrow,” said Andrin Oswald, CEO of Centogene, in a press statement.

This agreement, the financial details of which were not disclosed, is another step along the path to Centogene’s ambitious goal of curing 100 rare diseases within the next 10 years.

In the announcement of the goal in June earlier this year, the German company set out various goals to help achieve this target. In the mid-term, it plans to increase the size of its biobank to 1 million patients and develop 10 detailed disease models, including cell-lines, to enable therapy development.

Although it has not yet announced all 10 targets, initial targets are in the metabolic and neurological space including Gaucher disease, and genetic versions of Parkinson’s disease.

“This next chapter is powered by our unparalleled genomics knowledge, the world’s largest rare disease-centric Bio/Databank, global footprint, and strong established network of physicians, partners, and patients,” commented Oswald in an earlier statement.

“Together with our AI and multi-omic tools, this puts us at the focal point of precision medicine for genetically linked rare diseases – driven by the ability to unlock the complexities of patients’ biology to diagnose, understand, and treat these diseases effectively.”

Centogene are not the first company to recognize the value of Twist’s technology for rare disease diagnostics and therapy development. A number of test developers, pharma and laboratory service companies are already using Twist’s technology. For example, Twist announced last year it would partner with Takeda to help expand the big pharma’s biologics discovery capabilities in a number of areas including rare disease.

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