Helping Big Pharma master Big Data

Envisagenics founders Martin Akerman and Maria Luisa Pineda.

By GREGORY ZELLER // Medicine is making giant strides in the research of ribonucleic acid – RNA for short – a molecule that plays vital roles in the coding, decoding and regulation of genes.

The stumbling block is the resulting data, which has been piling up from next-generation sequencing technology and will soon represent the largest collection of electronic bytes in the world, topping even the astronomical amounts of data collected on space. And even YouTube.

All that information needs to be collated, analyzed and distributed, a massive undertaking requiring all-new big-data thinking.

Enter Envisagenics, a Cold Spring Harbor Laboratory spinoff with proprietary algorithms that can dramatically reduce the complexity of those massive biological datasets and quickly identify potential drug targets.

Founded in 2013 by Chief Technology Officer Martin Akerman and CEO Maria Luisa Pineda, the firm has executed an exclusive global licensing agreement with CSHL and just finished programming its proprietary software package.

The company is poised to make not one but two major funding announcements in the coming weeks (mum’s the word for now) and the principals are currently seeking new staffers – a database developer and a “bioinformatician” who understands both computers and biological sciences – as they rapidly approach what Pineda calls a “soft launch.”

“Basically, we have the software packages developed,” Pineda told Innovate LI. “We have our pipeline, which we’re calling SpliceCore, a software platform for the prediction and interpretation of RNA big data.

“What we’re looking to do now is develop a cloud-based solution for the comprehensive analysis of the data,” she added. “That’s our next big step.”

The plan is to significantly cut the time and expense associated with pharmaceutical development, according to Pineda, who said Envisagenics is focusing mainly on alternative splicing – the biological process through which DNA coding and noncoding sequences determine a cell’s biological functions.

“If there’s a mutation or some different kind of splicing occurs, it can be toxic to a cell and cause something like cancer,” Pineda said. “Our major function is to analyze and quantify these alternative splicing events through the next-generation sequencing data.”

Yes, it’s thick stuff – but the objective, Pineda noted, is easier to understand.

“This will help researchers around the world translate next-generation data into basic scientific discoveries that create lower-risk drug targets,” she said.

The cofounders pack impressive résumés. Pineda’s undergraduate studies were covered by an endowment from the Goizueta Foundation, an Atlanta-based philanthropic organization that’s granted nearly $400 million to educational causes.

She also received a National Institutes of Health fellowship through the Minority Access to Research Careers program. She earned a PhD from CSHL’s Watson School of Biological Sciences and acquired valuable investment and startup experience at various companies, including NYC-based Golden Seeds, one of the nation’s most active early-stage investment firms.

Akerman, a longtime biologist specializing in infectious diseases, earned his PhD in bioinformatics – on top of bachelor’s and master’s degrees in biology – from the Technion, Israel’s national institute of technology. His postdoctoral work has earned him more than 300 citations and dozens of scientific journal references, while his software suites are used by hundreds of scientists, particularly in the field of cancer research.

Akerman developed the algorithms powering the SpliceCore software in collaboration with CSHL researcher Adrian Krainer, an RNA splicing specialist who now serves on Envisagenics’ scientific advisory board. Although the pair still work daily at CSHL, Envisagenics is headquartered inside LaunchPad Huntington, where it’s setting its sights on some extremely lucrative markets.

Pineda points to the current $1.2 billion RNA therapeutics market – “with a 28 percent annual growth rate” – as well as a $1.7 billion “transcriptomics” market, “one of the fastest-growing and most underserved sectors utilizing nonregulated medical data such as next-generation sequencing.”

Behind the million-dollar words, complicated algorithms and super-advanced research is the future of medical care: gene sequencing mysteries that, if solved, can unlock new treatments for everything from cancer and AIDS to cardiovascular diseases and genetic disorders. The potential, according to Pineda, “is enormous.”

“There are many mutations and splicing factors that can be targeted,” she said. “There are many promising candidates for new drugs.”

“RNA therapeutics is expected to significantly impact global health care, and we are leveraging informatics software to translate all that next-generation sequencing data into biotech R&D intelligence,” Pineda added. “Hopefully, all this innovation and technology will serve a great purpose.”