Uploaded May 2024 | Updated September 2026, 22 minutes ago
In this interview with PacBio, Laura and Dave share their family’s rare disease journey and how they navigate home life with three young boys who all have an undiagnosed condition, leaving them without the important answers they are so desperately looking for. This story is the case for so many families around the world who are challenged by undiagnosed diseases.
Now enrolled in the latest research study at the Radboud University Medical Center (Radboudumc) in the Netherlands, the family hopes to gain further answers using PacBio’s latest long-read sequencing technology, the Revio system.
Learn more about how PacBio's highly accurate long-read sequencing, known as HiFi sequencing, provides a higher resolution approach compared to previously used technologies to better understand the genetic causes of rare diseases.
pacb.com/research-focus/human/rare-disease
Learn more about PacBio at pacb.com
Legal & Trademarks: Visit pacb.com/legal-and-trademarks
In this interview with PacBio, Laura and Dave share their family’s rare disease journey and how they navigate home life with three young boys who all have an undiagnosed condition, leaving them without the important answers they are so desperately looking for. This story is the case for so many families around the world who are challenged by undiagnosed diseases.
Now enrolled in the latest research study at the Radboud University Medical Center (Radboudumc) in the Netherlands, the family hopes to gain further answers using PacBio’s latest long-read sequencing technology, the Revio system.
Learn more about how PacBio's highly accurate long-read sequencing, known as HiFi sequencing, provides a higher resolution approach compared to previously used technologies to better understand the genetic causes of rare diseases.
pacb.com/research-focus/human/rare-disease
Learn more about PacBio at pacb.com
Legal & Trademarks: Visit pacb.com/legal-and-trademarks
