UCB works with Congenica to Support Rare Disease Genomic Research
News Dec 17, 2015
The advent of Next Generation Sequencing (NGS) has revolutionised rare disease genomic research, to improve diagnosis and discover novel causative genes. UCB, a global biopharmaceutical leader, is harnessing these advances to unpick the mechanisms behind novel rare diseases as a means for better understanding fundamental biological processes.
UCB’s goal is to transform this insight into first-in-class therapies that dramatically benefit the lives of patients with unmet medical need in its core therapeutic areas of autoimmune and inflammatory disease, and diseases of the Central Nervous System.
To achieve this goal, UCB will work with Congenica, a leading developer of genome analytics and clinical interpretation technologies.
Congenica’s Sapientia™ technology provides an environment for cutting-edge genome sequence analysis and interpretation, under-pinned by an extensive phenotype knowledge-base that provides support for genetic diagnosis, and a variety of integrated annotation tools.
Congenica has continued to demonstrate value through its agreements with NHS clinical genetic testing centres in the UK, but this will be the company’s first foray into the pharmaceutical arena.
Martin Armstrong, Senior Director of Molecular Genetics at UCB explains: “Generating sequencing data is not the challenge, making sense of it is. In order to realise our aims we need to be able to analyse and interpret NGS data in the correct biological context and in a manner that allows us to make informed decisions on what might, or might not be, a relevant target or mechanism to pursue.
The competitive advantage will be achieved by doing this in an efficient and objective manner, integrating supporting data from multiple sources and making use of the latest analytical tools and platforms, both those developed within UCB and those developed by expert companies working in the field.”
Matthew Page, Senior Principal Scientist at UCB, continues, “This arrangement will provide access to a cutting edge genome sequence analysis and decision support environment that will help us effectively resolve the genetic origins of rare disease.”
Tom Weaver, CEO of Congenica, states, “As a leader in the genomic interpretation field, Congenica is excited to begin working with UCB, enabling researchers to bridge genomics and drug development and bring much needed treatments to rare disease patients.
This project serves as a testament that Sapientia is not only beneficial in the clinical diagnostic setting, but also in the pharmaceutical setting. We look forward to supporting UCB in establishing new paradigms through its pioneering rare disease programme.”
Genomic medicine is transforming the way that diseases are classified and treated creating opportunities for new approaches to drug discovery and development. Through this arrangement, Congenica and UCB hope to make significant advances that will positively impact patients’ lives.
Computer scientists at Carnegie Mellon University say neural networks and supervised machine learning techniques can efficiently characterize cells that have been studied using single cell RNA-sequencing (scRNA-seq). This finding could help researchers identify new cell subtypes and differentiate between healthy and diseased cells.