Rare Disease Month has been about stories, science, and community.

Today on Rare Disease Day, PacBio is proud to sponsor San Diego’s event, standing with families, healthcare providers, researchers, and advocates advancing rare disease awareness and research.

#WeCareForRare #PacBio #RareDiseaseDay

#PacBio is proud to join the International Rare Diseases Research Consortium (IRDiRC)!

We’re joining forces with global stakeholders to advance rare disease research and equitable genomic discovery. Together, we move forward.

Details: bit.ly/4b8PqkW

#WeCareForRare #RareDisease #RareDiseaseMonth

Rare disease month: Activating the community through hackathons - PacBio Rare disease hackathons bring together bioinformaticians, scientists, clinical geneticists, and variant analysts to solve unresolved cases.

Rare disease research works best when communities unite.

This week’s blog explores hackathons where clinicians, researchers, and families collaborate to solve cases, share insights, and strengthen networks that advance progress worldwide.

Full blog here: bit.ly/4ucRXlU

#WeCareForRare #PacBio

HiFi sequencing can reveal rare and complex variants, but interpretation requires diverse background datasets.

PacBio and DNAstack are supporting the first global federated dataset of HiFi whole genomes through the HiFi Solves Global Consortium.

Details: bit.ly/4kQ0bMk

#WeCareForRare

The PacBio mission is about more than the technology we build. It’s about showing up for families.

For Rare Disease Month, we assembled 100 care packages for There With Care to support those facing critical illness and medical crises.

We are proud to show #WeCareForRare.

#RareDiseaseMonth

Radboud UMC research highlights promise of HiFi long-read sequencing to match standards of care in rare disease genomics - PacBio HiFi WGS could actually improve or refine the genetic diagnosic findings in an estimated 3.4 percent of rare disease cases.

For people with rare diseases, delayed explanations are a burden. New data from @radboudumc.bsky.social shows HiFi genomes can help replace a patchwork of tests with one unified approach. This consolidation provides clearer explanations sooner.

Read more: bit.ly/4tB04bs

#WeCareForRare #PacBio

Meet Elfride De Baere, Head of Clinic at Ghent University Hospital’s Center for Medical Genetics. She shares why PacBio long-read sequencing + a multiomic approach (genomics + transcriptomics) can help deliver clearer insights for families.

#WeCareForRare #RareDiseaseMonth #GeneticEyeDisease

Rare Disease Month: Taking a People-First approach in the global fight against rare disease - PacBio For Rare Disease Month, we’re sharing stories across the globe that connect the data to the lives of the families at the center of it.

Rare disease is more than statistics. It is lived every day by families searching for answers.

For Rare Disease Month, we share global, People-First stories showing how earlier genomics and long-read WGS can shorten diagnostic journeys.

Details: bit.ly/3ZyEczS

#WeCareForRare #PacBio #RareDisease

Progress in rare disease research starts with access.

#PacBio is proud to join iHope, a global initiative of Genetic Alliance, bringing long read whole genome sequencing to underserved families worldwide. Because progress should be global and within reach.

Details: bit.ly/3OFfviI

#WeCareForRare

PacBio joined @ki.se's “Together for the Future: Family + Care + Research” event—bringing together families of children living with rheumatic diseases for a day of learning & community.

#RareDiseaseMonth #WeCareForRare #RheumaticDiseaseInChildren