Sunday is Rare Disease Day – a time to honor the patients, families, caregivers, and healthcare professionals who are part of the rare disease community. At PacBio, we are passionate about supporting this community and providing tools that help improve the ability of scientists and clinicians to deliver valuable answers to families and reduce what can be a years-long diagnostic odyssey. And while each ‘rare’ disease may affect a limited number of people, collectively these diseases affect hundreds of millions of people around the world. Since we last celebrated this special day, we’ve been particularly excited by the progress made…
We’re excited to announce a research collaboration with Invitae focused on the investigation of clinically relevant molecular targets for use in the development of advanced diagnostic testing for epilepsy. To support this collaboration, Invitae is expanding its PacBio sequencing capacity to meet the growing demand for clinical applications dependent on highly accurate genomic information. More than half of epilepsies can be traced to a genetic cause. When a child presents with seizures, genetic testing can help identify more than 100 underlying, often rare conditions. Early genetic testing may be the most cost-effective, direct, and accurate diagnostic tool for children, shortening…
At the HudsonAlpha Institute for Biotechnology, scientists are building on advances in agricultural research to power a clinical pediatric research program. For this work, they’re using the Sequel System to perform whole-genome sequencing on trios of children with developmental disabilities and their parents. HudsonAlpha researchers have been using SMRT Sequencing to resolve challenging plant genomes, deploying a Sequel System and a PacBio RS II for these complex projects. The successfulness of that program led the institute to add a second Sequel System for use in sequencing human genomes. The organization is part of the NIH-funded Clinical Sequencing Exploratory Research Program,…