Families facing rare diseases know a thing or two about patience. They often face diagnostic odysseys that take years. Even when answers are forthcoming, therapies might not be. 

At DNAnexus, we’re proud to partner with several organizations to provide more rapid rare disease discovery, drug development, and delivery.   

One of these is Ultragenyx, a biopharmaceutical company based in Novato, CA, which is committed to bringing novel products to patients for the treatment of serious and debilitating rare and ultra-rare genetic diseases. The company has rapidly built a diverse portfolio of approved therapies and product candidates aimed at addressing diseases with high unmet medical need, yet clear underlying biology.

Delivering Safe and Effective Therapies

Ultragenyx is in the business of time. Its strategy is predicated upon time and cost-efficient drug development, with the goal of delivering safe and effective therapies to patients with the utmost urgency.

Thanks to DNAnexus Titan, we were able to provide Ultragenyx with a more streamlined way to unlock the power of multi-omics data and accelerate its discovery process. The unified NGS analysis platform brought its data and pipelines together in one secure environment for enhanced data analysis, collaboration, visualization, and sharing of results.

With the right infrastructure in place, Ultragenyx simplified the complexities of secondary analysis infrastructure, allowing researchers to focus on what’s important – rapid rare disease discovery

“You save the bioinformatician’s time, compute time, and therefore decrease turnaround time. This enables R&D researchers to answer questions and get rare disease treatments to market faster. You can’t put a price tag on that.”

SEAN DAUGHERTY
Associate Director of Bioinformatics, Ultragenyx

Data Sharing & Accelerated Rare Disease Discovery

Data sharing is key when researching a rare disease with many subtypes driven by diverse and distinct genetic alterations. Our partnership with St. Jude Children’s Research Hospital and Microsoft has resulted in a cloud-based, data-sharing ecosystem that has proved to be a model for harmonized genetic data and collaboration across the pediatric cancer community.

The more samples researchers are able to analyze, the more power they have for genomic discovery and clinical correlative analysis. The St. Jude Cloud has the power of more than 1.25 petabytes of data, and has already enabled many discoveries, such as new insight into a rare C11orf95 fusion in ependymoma and the classification of 135 pediatric cancer subtypes by gene expression profiling and map mutational signatures.

By allowing data to be authenticated, tracked, and monitored in a single, secure, and compliant system, our platforms reduce many of the logistical difficulties that researchers might otherwise face. 

We’re happy to support large-scale, global collaborations that are accelerating genetic discovery and providing actionable insights that will help the not-so-rare 300 million people impacted by genetic diseases get help sooner, rather than later.