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Speeding Time to Diagnosis in Rare Disease with AI – A Case Study with PTC Therapeutics

November 17 @ 11:30 am 12:00 pm

Join us at the 20th Global Congress 2023 Americas Orphan Drugs & Rare Diseases November 16-17 in Boston, MA. ThinkGenetic will be presenting a case study with PTC Therapeutics discussing the potential of AI in genetic risk assessment. The two-day Congress aims to offer insights into how to improve the diagnostic process and access to treatments of Orphan Drugs and Rare Diseases.

Speeding Time to Diagnosis in Rare Disease with AI – A Case Study with PTC Therapeutics

  • – Obtaining an accurate diagnosis in rare disease remains a formidable challenge
  • – Learn how PTC partnered with ThinkGenetic AI to find at-risk patients in medical records
  • – Hear about opportunities and challenges to expand the technology to other rare conditions
  • – Patients with a rare condition could be hiding in plain sight, based on their symptoms.


Ryan Miller, Director of Clinical Science and Diagnostics, PTC Therapeutics

Ryan Miller is a Director of Clinical Science and Diagnostics at PTC. The company’s strategy is to leverage its strong scientific and clinical expertise and global commercial infrastructure to bring therapies to patients.

Ruth Jacob O’Keefe, CEO, ThinkGenetic, Inc.

Ruth Jacob O’Keefe leads the charge in the company’s transformative mission to find patients at risk of a rare disease. Ruth’s journey continues to be defined by her relentless pursuit of a world where rare disease patients find the care and support they deserve. She is a founding member of the company.
Photo: Ruth Jacob OKeefe

Orphan Drugs & Rare Diseases 2023 Americas