8th Annual Orphan Drug Congress USA

The World Orphan Drug Congress USA focuses on the major challenges and opportunities to bring rare disease therapies to patients faster. Stakeholders from all over the world are brought together to discuss new research and innovations.


Visit Blueprint Genetics at booth #503 to learn more about our options for genetic testing!


Tero-Pekka Alastalo will be holding at talk on the exciting NGS advances happening at Blueprint Genetics.


Validating and optimizing NGS-based diagnostics to improve diagnostic yield and clinical utility

Date: April 26th
Time: 12:40 pm
Location: Gene Track Session
Speaker: Tero-Pekka Alastalo


Key Points:

  • Challenges in the field of genetic diagnostics and current technologies used to address them
  • Introducing the concept and importance of transparent, traceable, and comprehensive analytic validation of an NGS platform for clinical diagnostics
  • Patient examples which demonstrate the importance of high quality and comprehensive genetic diagnostics for improved outcomes for rare disease patients
  • Controlling costs by utilizing high quality WES derived sequencing data for rare disease


Read more about the event here.




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