Artificial Intelligence-real world applications

Prognos Health Announces Launch of Rare Disease Institute


Prognos Health, an AI-driven platform company focused on predicting the trajectory of disease to drive informed decisions earlier in the patient journey, today announced the launch of the Rare Disease Institute (RDI), a collaborative initiative among critical healthcare stakeholders focused on improving testing, diagnosis and treatment of rare disease. The initiative is being announced in conjunction with Rare Disease Day, 2020.

Collaborators include Antidote Technologies, Blueprint Genetics (A Quest Diagnostics Company), 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, Data Markets at Prognos and RDI 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 RDI 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, educate patients and physicians on the latest in diagnostics, and empower the pharmaceutical industry with the development of new therapies to treat and cure rare disease.

“There are thirty 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 the 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 is all about collaboration and innovation.”

The Rare Disease Institute will leverage artificial intelligence (AI), machine learning (ML) and natural language processing (NLP) algorithms across diverse data sets and types of data, including phenotypic, genetic, whole genome sequencing (WGS), medical claims, and electronic health records (EHR) providing a longitudinal view of patients. The collaboration will enable pharma and biopharma 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.”

RDI Advisors include:
– Alex La Croix, Global Head of Business Development at PTC Therapeutics,
– Kevin Havens, Executive Director of the Commercialization and Strategic Partnerships at Genomic Sciences and Precision Medicine Center (GSPMC) Medical College of Wisconsin
– Honey Reddi, Ph.D., FACMG, Clinical Laboratory Director and Director of Clinical and Translational Genomic Services at Genomic Sciences and Precision Medicine Center (GSPMC) Medical College of Wisconsin
– Paldeep Singh Atwal, M.D., Director of Atwal Clinic for Genomic & Personalized Medicine/Medical Director of Genetic Services at PWN Health
– Soniya Sheth, Vice President Talent Management & Recruitment at L’Oréal
– Sean McEvoy, Senior Director of Business Development at Blueprint Genetics
– Jason Bhan, M.D., Founder and Chief Medical Officer, Prognos Health
– Theresa Greco, Chief Commercial Officer, Prognos Health

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