A New Approach for Solving Rare Diseases: WuXi NextCODE’s Internet of DNA

WuXi NextCODE aims to support the rare disease global community by connecting patient families, foundations, clinicians, and drug developers worldwide to speed advances in diagnostics and treatments for rare diseases. We are uniquely positioned to achieve this and are creating partnerships and new capabilities to support this effort.

Hundreds of millions of people suffer from rare diseases. Many are misdiagnosed due to lack of access to genetic sequencing. Even after DNA sequencing, many still need additional research before it is clear how genes are contributing to their disease. Even after that, most still await development of targeted therapeutics for their particular condition. WuXi NextCODE is launching a breakthrough initiative that can put rare disease research and development on a much faster track. We’re partnering with patients, foundations, clinicians, researchers, and drug developers to improve diagnosis and treatment of rare disease.

Rare diseases pose a particular challenge to therapeutic and diagnostic developers. By definition, such patients are relatively few in number, are scattered around the world, and often have a misdiagnosis or no diagnosis at all. But now access to genetic sequencing is much greater, while the cost is falling. We are at a critical juncture where it’s possible to achieve more accurate, data-driven diagnoses, for far more patients, on a global scale. A whole new door is opening for rare-disease drug discovery and development. While sequencing is the key driver now, advanced tools are needed, such as deep learning, which will allow us to analyze and model vast amounts of genetic, other “omic,” and medical data to identify the biological pathways causal to disease. It can also increase our understanding of complex diseases that have shared genetic roots with rare diseases.

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