Tag Archives: rare disease

Rare Disease Day Spotlight: Dr. Christina Waters on how WuXi NextCODE is Using Global Genomics to Advance Diagnosis and Treatment

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As we continue to build and expand the leading global platform for storing, sharing, and interpreting massive sets of genomic data, rare diseases are becoming an increasing focus for us.

So, today, on Rare Disease Day, we want to spotlight the role of Dr. Christina Waters, our new Senior Vice President for Rare Disease.

Christina founded the non-profit RARE Science in 2013.  With RARE Science she has succeeded in creating a framework to power rare disease research and bring together families across 38 countries who share one of the almost 400 conditions the organization is working on. Joining WuXi NextCODE has allowed Waters to help us increase our focus on rare diseases and take her non-profit’s goals to scale and help more patients with rare diseases receive definitive diagnoses and more effective treatments.

“The reality of rare disease means we must work globally if we are going to have enough patients in any of our studies to have an impact,” she explains.

Rare conditions are, after all, much harder to study because in any given place fewer people have them.  For some conditions, the number of known patients is fewer than 100 worldwide.

Still, overall, there are many rare conditions – about 7,000 and affecting hundreds of millions of people worldwide. Over half of rare disease patients are children, 30% of which will die before their fifth birthday.

Learn more about Christina and her aims for rare disease patients.

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WuXi NextCODE Named one of the “Top 10 Most Innovative Companies in Biotech” by Fast Company for Creating the World’s Leading Platform for Genomic Data

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One of fast company's most innovative companies 2018

Wuxi NextCODE has been named one of Fast Company’s “Top 10 Most Innovative Companies in Biotech” for being the world’s leading platform for storing, sharing, and interpreting massive sets of genomic data. With offices in Shanghai, Cambridge and Reykjavik, we provide the infrastructure underpinning many of the largest national genome projects and rare disease efforts underway worldwide.

One notable example of our capabilities cited by the editors of Fast Company is the RareCODE rare disease diagnostics platform we launched approximately one year ago in collaboration with Fudan Children’s Hospital in Shanghai. It’s hard to think of work that better taps, according to the magazine’s criteria, “both heartstrings and purse strings and uses the engine of commerce to make a difference in the world.”

RareCODE is the first platform that applies global gold standard genomics to the diagnosis of rare disease, at scale, in China. As a result of this program, Fudan Children’s has been able to quickly and accurately diagnose thousands of rare disease patients, allowing clinicians to optimize their treatment and care.

In just the first calendar year since its launch, RareCODE generated more than 12,000 clinical reports. We and our partners at Fudan also used it for some 2500 cases in their neonatal intensive care unit (NICU). We are now generating more than 1,000 new reports each month.  Thanks to this program, Fudan clinicians have been able to provide diagnoses to nearly 40% of patients tested and recommend treatment for nearly two-thirds of them. In short, this partnership is now carrying out sequencing and delivering diagnoses at a rate that is equivalent to that of the world’s leading laboratories.

We are delighted to join outstanding partners and colleagues on Fast Company’s Top Biotechs list, including Novartis, Biogen, GE Healthcare, Spark Therapeutics, and Sophia Genetics. The winners are selected by the magazine’s reporting team from thousands of enterprises reviewed each year.

Learn more about this award, and the breakthrough genomic platform that helped us earn it.