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Leveraging our expansive genomic database, we’re working to transform care for pediatric patients. See GeneDx research being presented at the American Association of Human Genetics Annual Meeting.
October 23, 2024 • 2 min read
At this year’s American Association of Human Genetics (ACMG) Annual Meeting, connect with GeneDx to learn how we’re working to unlock the future of genomic sequencing and end the diagnostic odyssey through innovation. Our scientific presence is powered by our expansive exome and genome database and driven by our dedication to equitable access to genomic sequencing.
This November 6 through 8, don’t miss presentations on the GUARDIAN study, new research on genetic etiologies, the diagnostic yield of exome sequencing in pediatric motor speech disorders, and more. The complete roster of speakers and events are below.
Wednesday, November 6
| Time (MT) | Title | Presenter | Room | Session |
|---|---|---|---|---|
| 9:15 – 9:30 am | Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies | Janelle Stanton, PhD (University of Limerick, Ireland) | 505 | 12 |
Thursday, November 7
| Time (MT) | Title | Presenter | Room | Session |
|---|---|---|---|---|
| 1:30-1:45 pm | Use of exclusion criteria to select critically ill newborns for rapid genome sequencing captures precise genetic diagnoses missed by use of conventional inclusion criteria | Tara Wenger, MD, PhD (University of Washington) | 505 | 54 |
Friday, November 8
| Time (MT) | Title | Presenter | Room | Session |
|---|---|---|---|---|
| 10:45-11:00 am | Genome-wide profiling of highly similar paralogous genes using HiFi sequencing | Xiao Chen, PhD (PacBio) | Four Seasons Ballroom 4 | 71 |
| 1:45-2:00 pm | The largest to-date exome study of autism spectrum disorder triples the number of autism-associated genes | Frederick Satterstrom, PhD (Broad Institute) | 401 | 78 |
| 11:15-11:30 am | Benchmarking detection of technically challenging pathogenic variants with long-read sequencing and a head-to-head comparison with short-read sequencing in a clinical diagnostic laboratory | Joseph M. Devaney, PhD (GeneDx) | Four Seasons Ballroom 4 | 71 |
| 6:00-6:20 pm | Expanded newborn screening using genome sequencing for early actionable conditions: results of the first 10,000 participants enrolled in the GUARDIAN study | Wendy Chung, MD, PhD (Boston Children’s Hospital) | Mile High Ballroom | 86 |
All poster presentations will be held in the Poster/Exhibit Hall.
Thursday, November 7 | 2:30-4:30 pm MT
| Title | Presenter |
|---|---|
| Racial disparities in access to a precise genetic diagnosis are not due to differences in diagnostic yields | Jessica X. Chong, PhD (University of Washington) |
| Partial methylation of a pathogenic XYLT1 repeat expansion associated with intrafamilial variation in severity of Desbuquois dysplasia 2 | Michael J. Bamshad, MD (University of Washington) |
Friday, November 8 | 2:30-4:30 pm MT
| Title | Presenter |
|---|---|
| Genetic etiologies and diagnostic yield of exome sequencing in pediatric motor speech disorders | Marissa Mitchel, MS (Geisinger Autism & Developmental Medicine Institute) |
| Evaluating dosage sensitivity predictions for multigenic copy number variants to facilitate clinical interpretation | Erin Riggs, MS (Geisinger) |
| De novo variants in GTF2H1 underlie variable syndromic developmental delay | Karynne Patterson, BS/BA (University of Washington) |
