Point mutation, illustration
Computer graphic illustration depicting a point mutation. A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a sequence of DNA or RNA. Point mutations have a variety of effects on the downstream protein product consequences that are moderately predictable based upon the specifics of the mutation. These consequences can range from benign (e.g. synonymous mutations) to catastrophic (e.g. frameshift mutations), with regard to protein production, composition, and function.

Rare disease-focused technology and data company Centogene announced today that it will partner with clinical research consulting company Premier Research to provide an end-to-end to better enable clinical studies focused on rare diseases. Leveraging the expertise of both companies, the partners foresee delivering services that aid in patient recruitment, stratification, and enrollment to facilitate more efficient trials.

While rare diseases are estimated to affect between 300 million and 400 million people worldwide, the inherently small patient populations of the more then 7,000 identified rare diseases present challenges in finding and recruiting patients for clinical trials. This, combined with the complexity of diagnosing rare disease, presents a significant hurdle to developing new treatments. Under this new partnership, Premier Research will tap its expertise in clinical trials and rare disease and combine it with the Centogene’s Biodatabank and multiomic approach to speed the identification of eligible patients for clinical trials.

“In partnering with Premier Research, our first strategic CRO partner, we are extending our strategy and expanding our commercialization opportunities to provide pharma partners with yet another model to work with us,” said Kim Stratton, CEO of Centogene. “By collaborating with partners to leverage our insights, omics technologies, and deep rare disease expertise, we are shifting the paradigm to transform data into life-saving therapeutics for patients around the world.”

Centogene, founded in 2006, has made rare disease a focus for more than 10 years. It has steadily grown its physician network over the years to help build its rare disease database, which now includes more than 650, 000 patients, more than 400,000 collected biosamples and a testing portfolio that encompasses more than 19,000 genes. It has derived its data from more than 120 different countries and more than 70% of the patients represented in its databank are of non-European descent.

For its part, Premier Research will bring its expertise in the field it has developed via more than 240 rare disease studies over the past five years. It will leverage this experience, along with its broader experience in clinical trial design and regulatory issues to navigate what are often first-of-a-kind clinical studies.

“The CENTOGENE Biodatabank and multiomic-based services will enhance how we design and recruit for rare disease clinical trials,” said Angi Robinson Premier Research’s senior vice president, project delivery. “Our foremost priority is getting lifesaving treatments safely in the hands of patients. Together, we will explore ways to more rapidly engage the right patients and customize clinical delivery to meet the unique needs of sponsors in rare disease clinical research.”

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