Dr. Christina Waters outlines her vision for sharing global genomic data to better diagnose and treat rare diseases.
February 26, 2018 –
Rare disease touches families all over the world. We aim to overcome geographic boundaries, lower the barrier of access to genomics, shorten diagnostic odysseys, and accelerate new treatments for #EveryRare disease.
“Kids with rare diseases urgently need an ‘end-to-end’ solution to find out what’s causing their condition and if there are any options to treat it,” says Christina Waters, PhD.
Many advocacy groups are funding research, raising awareness, and pursuing important new options for their specific diseases. But a true systematic approach that can solve more rare disease cases more quickly and understand the biology underlying these diseases, requires lots of global collaboration, data, and the technology to pull it all together and put it to use.
The foundation of understanding rare disease needs to be genomics, our DNA. And we need to link families who have the same rare disease but are scattered across the globe. That will let us identify what is similar and different, genetically, and uncover biological causes. Rare disease knows no geographic boundaries, and no matter where you are in the world or what language you speak, our DNA provides the common language needed to decipher biological causes and lead to new and improved treatments for rare diseases.
As someone with extensive experience studying the biological basis of complex genetics, Waters has found that by sequencing each rare individual, we can understand the biological pathways and possibly even repurpose approved drugs, for example, which can greatly accelerate access to new and better therapies.
But to have broadest impact, these approaches must be based on a standard holistic, global platform that integrates all kinds of data linking genetics to observable traits of rare diseases.
“No one else was doing that, so it became my calling,” says Waters, who 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.
Waters recently joined WuXi NextCODE as Senior Vice President and General Manager heading the company’s rare disease program. “By working at WuXi NextCODE, I can take the approach we developed at RARE Science to a level I never dreamed would be possible,” she says.
That’s because WuXi NextCODE is building the leading global platform for storing, sharing, and interpreting massive sets of genomic data. “This platform uses DNA sequencing, functional and clinical data, and artificial intelligence (AI) to answer important questions about biological targets,” she says. These tools make it possible to start solving rare diseases. They allow Waters to 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 are fewer than 100 worldwide. Still, overall, there are many rare conditions – about 7,000 and affecting hundreds of millions of people world-wide, over half of whom are children, 30% of which will die before their fifth birthday.
As someone with extensive experience studying the biological basis of complex genetics, Waters knew creating a solution for kids with rare disease was going to be a challenge. But she has worked in the Life Sciences for over 25 years, in both large pharma, biotech, non-profits and consulting for large life sciences firms to accelerate the translation of discovery to clinical impact. She knows what is available to patients now, and it is not enough.
“Kids are our future, and to address the urgent needs of children with undiagnosed and rare diseases, we should be sequencing every one of these children wherever they are in the world,” she says.
“For some, sequencing would lead to a really easy fix, like changes in diet. For others, it is going to take more time and more work. But if we cast our net wide enough, by working globally and united, we can take steps to improving their lives too and leverage what we learn from one child to another.”
Some patients, she explains, have conditions that have never been seen before, which makes diagnosis harder. For others, the problem is purely practical. They can’t afford to get sequencing. “We need to provide sequencing to anyone who needs it, anywhere in the world,” says Waters.
“There is tremendous excitement about new technologies such as gene therapy, stem cells, and gene editing [CRISPR],” says Waters. These tools have great potential to uncover crucial biology and point to cures. “But you have to write the book of the genome before you can edit it.” Waters now aims to write as much of that book as possible, thanks in part to WuXi NextCODE’s global genomics platform.