Chicago, IL (October 19, 2023) – ThinkGenetic, Inc. (thinkgenetic.com), a rare disease-focused digital health company, has unveiled promising research in finding patients at risk of an ultra-rare condition.
The research was presented for the first time at the National Society of Genetic Counselors Annual Conference in Chicago and was developed in collaboration with PTC Therapeutics, Emory School of Medicine, and the Children’s Hospital of Atlanta.
Seven patients were identified as at high risk for aromatic L-amino acid decarboxylase deficiency (AADCd) and an additional thirty-two patients were flagged as a possible risk, based on the structured and importantly, unstructured data, within electronic health records (EHR).
In the world of rare diseases, obtaining an accurate diagnosis has long been a formidable challenge, with patients often enduring three misdiagnoses and consulting five different doctors.
ThinkGenetic, Inc. has paired its clinical knowledge base with the power of artificial intelligence (AI) to reduce this diagnostic odyssey with greater accuracy and sensitivity.
Ruth O’Keefe, CEO at ThinkGenetic, Inc., exclaimed, “This marks one of our most exciting research achievements to date. Collaboration fuels innovation, and these results underscore the potential of our methodology to uncover patients with rare conditions hidden in plain sight within their EHRs. We are inspired to continue to partner and expand our model to address a multitude of rare diseases.”
For more information, please visit thinkgenetic.com.
ThinkGenetic is an award-winning digital health company, specializing in finding individuals at risk of rare conditions. The company detects patients for evaluation, treatment, and clinical trials using validated algorithms, AI technology, and the team’s deep experience in genetic and rare diseases. The company works with biopharma, research institutions, healthcare systems, and patient advocacy organizations. ThinkGenetic is a MIT Solve / Horizon Prize winner and an alumnus of the Opportunity Machine / Accelerate South and PULSE@MassChallenge accelerators programs. For more information, visit www.thinkgenetic.com.