Oxford Nanopore at ACMG 2025
The 2025 ACMG Annual Clinical Genetics Meeting will gather members of the medical genetics community from around the world for four days of professional growth, education, networking, and collaboration with your peers. Hear about new discoveries in genetic disorders, rare diseases, genome sequencing, gene therapies and best practices in genetic counseling.
Oxford Nanopore will have a booth in the exhibit hall, and will host an Corporate Educational Satellite Symposium on Tuesday, March 18th, 2025. Session details to come soon!
Corporate Educational Satellite Symposium
Challenging No More: Simultaneously Tackling CMRGs and Methylation
Date: Tuesday, March 18th, 2025
Time: 4:00 pm - 5:30 pm PT
Location: JW Marriott Los Angeles L.A. LIVE: Gold Ballroom 1
Corporate Educational Satellite Symposia are independently developed and supported by ACMG’s industry partners and offer additional valuable educational opportunities for attendees.
This workshop will present data and decentralizable methods of addressing some of our most challenging genes and variants: compound heterozygotes, repetitive regions, pseudogene homology, complex structural variants, and methylation using both targeted sequencing and whole genome methods.
Session agenda to come soon
Corporate Satellite Speakers
)
Welcome & introduction
Cora Vacher, Associate Director, Market Segment, Oxford Nanopore Technologies
Cora Vacher is the Market Segment Associate Director for Human Genetic at Oxford Nanopore Technologi...
)
Diagnosing the undiagnosed with long read genome data
Wendy Chung, Chair of Pediatrics, Boston Children's Hospital
Wendy Chung, M.D., Ph.D., is a clinical and molecular geneticist and the Chief of the Department of ...
)
Exploration of long-read sequencing in the resolution of newborn screening
Cate Paschal, Director, integrated cytogenetics and molecular genetics laboratory, Seattle Children’s Hospital
Cate Paschal received her PhD from Weill Cornell Medical College. She is board certified in Clinical...
)
Oxford Nanopore Applications
Sissel Juul, VP, Applications, Oxford Nanopore Technologies
Sissel joined Oxford Nanopore 10 years ago and leads the multidisciplinary Applications teams global...
)
Diagnostic potential of nanopore sequencing for challenging cases in the Undiagnosed Diseases Network
Shilpa Korben, Harvard Medical School
Dr. Shilpa Kobren is a researcher at the Data Management and Coordinating Center (DMCC) for the Undi...
Agenda
4:00 pm - 5:30 pm PT | Talk title | Speaker |
|---|---|---|
4:00 pm - 4:05 pm | Oxford Nanopore introduction and overview | Oxford Nanopore Technologies team |
4:05 pm - 4:20 pm | Exploration of long-read sequencing in the resolution of newborn screening | Cate Paschal, Seattle Children's Hospital |
4:20 pm - 4:35 pm | Diagnostic potential of nanopore sequencing for challenging cases in the Undiagnosed Diseases Network | Shilpa Korben, Harvard Medical School |
4:35 pm - 4:50 pm | Diagnosing the Undiagnosed with long read genome data | Wendy Chung, Boston Children's Hospital |
4:50 pm - 5:05 pm | Oxford Nanopore Applications | Sissel Juul, Oxford Nanopore Technologies |
5:05 pm - 5:30 pm | Panel discussion | All speakers |