Emedgene uses AI to untangle rare genetic disease cases

Emedgene is making breakthroughs in genetic analysis with its AI program.
Image: Emedgene

The fields of healthcare and technology seem to be intertwining more every day. From artificial intelligence (AI) programs that develop new drugs to supermicrosurgery robots that are more capable than human surgeons, advances in health tech are moving at a rapid pace.

However, of all the efforts being made, projects involving AI seem to be the most promising. One company, Emedgene, is diving into this field in a particularly interesting way. The AI-focused startup is collaborating with researchers around the world to untangle the mysterious web of undiagnosed rare diseases.

Emedgene’s innovative platform helps both patients and physicians understand puzzling clinical cases by analyzing all of the available evidence. It has a huge potential to revolutionize the way that doctors approach treatment for patients with non-traditional disease profiles.

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The Emedgene Approach

The key to discovering cures and treatments for many of the diseases that afflict humanity is our genome. Hidden in seemingly endless combinations of nucleotides are answers to our most puzzling questions. Yet, finding those answers is an arduous task, one more difficult to complete than most believe is possible.

It’s worth noting that there are more than 7,000 rare genetic diseases in the world. However, Emedgene notes that there are only approximately 3,000 certified geneticists and clinicians working on interpreting genetic data. It’s extremely lucky for a researcher to uncover a cure for just one of these conditions. Asking each researcher to find the answers to more than one is absurd. Yet, that’s what the numbers reflect.

In response, Emedgene has harnessed one of the most powerful technologies available today—AI. The company uses a completely automated genetic interpretation platform to analyze vast quantities of global genetic data. It helps hospitals and public health organizations improve patient outcomes by deepening our understanding of genetic diseases.

The system accomplishes this by analyzing all of the literature on the topic. This includes information from more than 1.5 million new publications that are released every year.

Meanwhile, Emedgene’s approach uses automated interpretation algorithms to identify “potentially causative mutations” in both known and unknown genes. This, along with the supporting evidence that the platform provides, helps greatly reduce the amount of time that researchers must spend looking for and interpreting research manually. It then frees them up to start working on interventions and finding breakthroughs.

The AI platform has gained traction with major research institutes like Baylor Genetics, Baylor College of Medicine, Medical College of Wisconsin, Greenwood Genetic Center, TGEN, and Clalit HMO.

Meet Pathorolo

Although it will never get the same amount of love as calendar celebrations like Coffee Day or Drink Wine Day, the last day of February each year is known as Rare Disease Day. It helps raise awareness for genetic diseases that only affect a small percentage of the population.

This year, Emedgene is partnering with several research institutions to help these patients. Its new Pathorolo algorithm analyzes their cases to determine if any new breakthroughs have occurred in the related literature. This not only helps solve cases but also gives patients a way to stay in touch with their care.

Pathorolo is the first algorithm of its kind. It was developed for the sole purpose of solving unique genetic cases. Unsurprisingly, it’s good at what it does. In a test cohort containing 553 patients, 93 percent of cases that the AI marked as “solved” were indeed solved.

To grant something a “solved” tag, Pathorolo continuously scans through literature and databases which are updated frequently. Once it finds a study documenting a research breakthrough regarding a patient’s case, it notifies them. Then, patients can follow-up with a geneticist and Emedgene’s platform supplies them with the new evidence.

The company’s CEO, Einat Metzer, says, “Fewer than 50 percent of rare disease cases are solved on initial analysis. But genomics knowledge is growing at a fast pace, and at re-run, an estimated 10 percent of cases can be solved with new information.”

He adds, “We’d like to close the gap between scientific knowledge and patient care. In this era of extremely rapid discovery, ironically, computational AI approaches can demonstrate human compassion.”

Emedgene is working with a variety of organizations to help give more patients access to its platform.

Engineering Breakthroughs

Around the world, researchers continue to expand upon our understanding of the human genome. While a full map of it has been around for some time, figuring out how each gene interacts with the others and how they contribute to various pathologies is no small task. For human scientists, untangling this web is nearly impossible.

Of course, as science does, we’ve defied the odds—albeit slowly. For instance, in the 2010s, several major genetic breakthroughs occurred. Perhaps none are more impactful than the discovery of CRISPR, an enzymatic tool that lets scientists target specific sections of DNA and modify it as they see fit.

Meanwhile, the last decade has seen an exponential increase in the interest surrounding genetic data and research. New ways to scale low-cost methods of studying the human genome are cropping up constantly. This development is helping researchers find new, better treatments for some genetic-based diseases while also gaining a better understanding of how our DNA works.

Yet, that growing amount of data poses a problem—its size. The very thing that makes it so useful can also hinder research. Thanks to Emedgene’s approach and the use of AI, that size becomes a non-issue. Since artificial intelligence can crunch through massive libraries of data, it is able to speed up genetic research significantly.

Important Teamwork

As Emedgene’s work continues to gain traction in the genetics space, it will be fascinating to see how AI affects research.

In its early days, the technology has already done big things for pharmaceuticals. If it can have the same level of impact on genetic disease research, the implications would be massive.

Debora Varon, a senior genetics analyst of the Rare Genomics Institute weighed in on Emedgene’s platform. She says, “I’m extremely excited about the hope this new capability brings to our community of undiagnosed patients.”

Thanks to the power of AI, and the collaboration between healthcare and technology, Rare Disease Day 2020 is giving patients a more positive outlook than ever.


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