People First
PacBio technology enables geneticists to uncover deeper insights in rare disease research that impacts lives globally, highlighting the advantage HiFi long-read sequencing has over other methods. Read these inspiring stories of hope and discovery.
A Rare Opportunity to Help Tackle Daughter’s Rare Disease
The rarest day on the calendar is February 29th — which makes it the perfect time to celebrate Rare Disease Day. On this day, we join millions of people around…
Review: Long-Read Sequencing Helps Uncover Genetic Basis for Rare Disease
A new review article nicely sums up the utility of long-read sequencing for solving rare diseases that cannot be explained by other methods. The paper, published in the Journal of…
SOLVE-RD Team Adopts PacBio Sequel II System to Solve Rare Diseases
Great news from the rare disease community: the European research program SOLVE-RD has chosen SMRT Sequencing technology to help reveal the genetic mechanisms responsible for these tough-to-diagnose genetic diseases. As…
Review: How Long-Read Sequencing Could Make a Difference in Medical Genetics
A recent review article published in Frontiers in Genetics offers a great look at the landscape of long-read sequencing. Authors Tuomo Mantere, Simone Kersten, and Alexander Hoischen from Radboud University…
Join us in recognizing Rare Disease Day
The last day of February each year is designated as Rare Disease Day, a unique opportunity to recognize people who sometimes seem to be forgotten by the mainstream medical community….
SOLVE-RD Funded to Improve Diagnosis of Rare Disease with New Tools Including Long-Read Sequencing
The SOLVE-RD research program, a collaboration of 21 participant organizations in 10 nations, announced it has received a €15 million grant from the European Union’s Horizon 2020 initiative. SOLVE-RD aims…