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

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.


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

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.

Genomic Power Tools: WuXi NextCODE Partners with 10x Genomics to Offer Advanced NGS Technologies

Genomics is advancing rapidly, and as the world’s only contract genomics organization, we make it our business to work closely with world-leading technology partners to make sure our customers can access all the best tools available for using the genome to derive the insights they need – from generating sequence data to storing it, querying it and sharing it, all in one place.

This week, 10x Genomics, Inc. announced new programs to deploy its innovative sequence data solutions to create a “global ecosystem of sequencing technologies and service providers who together span all aspects of the next-generation sequencing (NGS) workflow, from wet-lab to informatics,” said Edwin Hauw, senior director of strategic marketing at 10x Genomics, in their recent press release.  WuXi NextCODE is proud to be among the first partners in this strategy.

10x Genomics’ Certified Service Provider program will connect customers to a reliable network for outsourcing genomic and single cell analysis through global providers, leading off with WuXi NextCODE. The applications include 10x Genomics’ Chromium Single Cell Gene Expression, Immune Profiling Genome or Exome Solutions.

Their second initiative, Compatible Partnership Programs, will designate 10x compatible products, thereby helping customers identify ancillary NGS technologies that have been verified and validated as compatible with the company’s products. More details about the two new programs will be shared at this years’ Advances in Genome Biology and Technology Meeting (AGBT) held February 12 to 16 in Orlando, FL.

We at WuXi NextCODE already have considerable experience working with 10x Genomics. “We are proud to be among the first certified 10x service providers,” says Dr. Hongye Sun, WuXi NextCODE’s CTO and founder of our sequencing laboratory. “Our philosophy is to provide our customers with end-to-end solutions for using genomic data to improve health and medicine.

10x shares that vision, and their technology enables our customers to derive even more information and value from their sequencing data and to use other best-in-class laboratory tools and our informatics to generate novel insights. That’s the kind of innovation and collaboration that drives the field forward.”

It’s a strong partnership with a compelling rationale.  We at WuXi NextCODE are building the global standard platform for genomic data.  Our own capabilities include study design, sequencing, secondary analysis, storage, interpretation, scalable analytics, artificial intelligence and deep learning.

Meanwhile, as Sun says, “10x Genomics offers, among other tools, unique library methods in combination with short-read sequencing technologies that are very powerful for DNA/RNA sequencing from single cells to population scale. That means users can derive a range of key additional information, including on phasing, structural variation and gene expression. That will not be obtained with traditional short-read sequencing technologies alone.”

Once our partners have used 10x to generate the data they need, we are very pleased to be able to help them take it downstream according to their needs, to improve medicine and health around the world.


Another sequencing milestone for WuXi NextCODE partner Oxford Nanopore

Oxford Nanopore MinION

Over the last few months, Oxford Nanopore (ON) instruments have been used to achieve two major sequencing milestones.

First, in December, a group in Australia announced they had become the first to generate a DNA read longer than 1 Mb when they produced a 1.105 Mb read from Chromosome 19.

Then, just last week, a paper was published in Nature Biotechnology describing how scientists used a handheld ON sequencer – the MinION – to assemble an entire human genome by direct long reads. That accomplishment is another important first that demonstrates how this technology can power breakthroughs.

To learn more about this remarkable study and the Nanopore technology, see this post on the WuXi NextCODE Genomic Insights blog. It features comments and insights from our esteemed colleague Dr. Hongye Sun, our Chief Technology Officer and head of our sequencing lab in Shanghai.

WuXi NextCODE has a lot of experience working with Nanopore instruments.  In October of last year, we announced that our Shanghai sequencing laboratory would feature the first open-access installation of ON instruments in a laboratory in China.