RARE Daily

Rare Disease Institute Launched to Shorten Patient Journey

March 2, 2020

Rare Daily Staff

Several healthcare stakeholders have launched the Rare Disease Institute with a mission to improve testing, diagnosis, and treatment of rare disease through the application of artificial intelligence.  

Collaborators include AI-driven platform company Prognos Health, Antidote Technologies, the Blueprint Genetics division of Quest Diagnostics, The Cure GM1 Foundation, Datavant, Medical College of Wisconsin Genomic Sciences & Precision Medicine Center, PWNHealth, and The United Leukodystrophy Foundation.

“With more than 7000 rare diseases and only 400 therapies in the market, we see an opportunity to bring the industry together to leverage our collective assets and capabilities to drive research and commercialization of therapies to market for patients,” said Mark Reis, vice president of data markets at Prognos and Rare Disease Institute director. “We have a clear mission with our collaborators — get the right test to the right patient with the right treatment as fast as possible.”

The Institute is partnering with pharmaceutical companies, reference and genetic testing labs, health systems/academic centers, patient advocacy groups and innovative technology companies to improve access to testing and therapies for patients, to educate patients and physicians on the latest in diagnostics, and to empower the pharmaceutical industry with the development of new therapies to treat and cure rare disease.

The institute will leverage artificial intelligence, machine learning, and natural language processing algorithms across diverse data sets and types of data, including phenotypic, genetic, whole genome sequencing, medical claims, and electronic health records to provide a longitudinal view of patients. The collaboration will enable pharma and biopharma companies across research, clinical trial planning and recruitment, and commercialization of therapies.

“There are 30 million people living in the United States with a rare disease and patients are too often misdiagnosed, undergoing a harrowing and costly healthcare odyssey before finally getting the correct diagnosis,” said Kevin Havens, executive director of commercialization and strategic partnerships, Genomic Sciences & Precision Medicine Center Medical College of Wisconsin. “Bringing together industry leaders to ensure pharma companies have access to comprehensive data sets and capabilities to accelerate diagnosis, treatment, and cures in rare disease are all about collaboration and innovation.”

The Rare Disease Institute will leverage artificial intelligence, machine learning, and natural language processing algorithms across diverse data sets and types of data, including phenotypic, genetic, whole genome sequencing, medical claims, and electronic health records to provide a longitudinal view of patients. The collaboration will enable pharma and biopharma companies across research, clinical trial planning and recruitment, and commercialization of therapies.

“We believe including the patient perspective and voice in rare disease research is imperative,” said Keely Haag, director of operations, United Leukodystrophy Foundation. “The disorders that our patients are diagnosed with are progressive, meaning that they tend to worsen throughout the life of the patient, so early diagnosis is critical and creating an environment where key healthcare stakeholders can work together to contribute their expertise and innovation is an important initiative.”

Photo: Mark Reis, vice president of data markets at Prognos and Rare Disease Institute

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