Emedgene Donates Appraisals for Undiagnosed Rare Disease Patients to Rare Genomics Institute and Others

PALO ALTO, California, Feb. 28, 2020 /PRNewswire/ -- Emedgene, an AI company working with the world's leading research institutes, is launching an initiative to help patients with undiagnosed rare diseases. The company will use its top-of-the-line genomics analysis platform and new Pathorolo algorithm to re-run patient cases and identify whether they can be solved with newly available information.

Pathorolo is the first machine-learning algorithm developed to assess the likelihood of solving a genomic clinical case with currently available evidence. The model is based on Emedgene's proprietary automatic-interpretation algorithms, which include information continuously curated from the literature and databases. In a test cohort of 553 patients 93% of cases that were identified as solved, were indeed solved.

Emedgene will continuously run its algorithms on the data and alert patients once cases are recognized as solvable. The recommended follow-up will be through a certified medical geneticist, who will be provided with the new evidence for the case. Emedgene will collaborate with patient advocacy groups, research institutes, and non-profit organizations to make the program available for their patients.

One of the organizations that worked closely with Emedgene over the past year is the Rare Genomics Institute. Debora Varon, a Senior Genetics Analyst, attests to the benefits of automatically reanalyzing patients cases with novel scientific approaches: "I'm extremely excited about the hope this new capability brings to our community of undiagnosed patients."

"Fewer than 50% of rare disease cases are solved on initial analysis," says Einat Metzer, CEO of Emedgene. "But genomics knowledge is growing at a fast pace, and at re-run, an estimated 10% of cases can be solved with new information. 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."

About Emedgene: Emedgene is a highly accurate AI-based genomic interpretation platform adopted by leading genetic labs including Baylor Genetics, Baylor College of Medicine, Medical College of Wisconsin, Greenwood Genetic Center, TGEN and Clalit HMO. The platform automates the genomic analysis and interpretation workflow, reducing time spent per case by 50% or more, while increasing yield and accelerating discovery.

Read more at www.emedgene.com.

About Rare Genomics Institute: Rare Genomics is an international 501(c) 3 non-profit founded in 2011 to fill the health care gap for undiagnosed rare disease patients and supporting research in rare diseases. Rare Genomics (RG) works alongside patients and their families, providing them with the necessary tools, knowledge, and connections so that they can better understand the cause of their disease. RG helps rare disease patients find a diagnosis, treatment, and pathway to a cure by individualized access, coordination and execution of genetic sequencing and research services with RG and its affiliates. RG also supports rare disease advocacy by fostering an online community of rare disease patients, and supporting rare disease research through a yearly grant competition. We hope that these efforts slowly push science and care forward to meet the needs of the patients affected by rare diseases. For further information on Rare Genomics, please visit http://www.raregenomics.org.

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Contact
Barbara Nowik
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SOURCE Emedgene

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