NHGRI at ASHG 2023 Annual Meeting
Event Details
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
Visit with NHGRI staff at Booth #214 in the exhibit hall to learn more about our research, programs, career and training opportunities.
All times are in Eastern Time (ET).
to
Walter E. Washington Convention Center
Poster Presentations
| Presenter | Title | Board # |
|---|---|---|
| November 2, 2023, 3:00 - 5:00 p.m. | ||
| Nicholas Singh-Miller | Building a phenotype for ALPK3 loss-of-function mutation heterozygotes: Leveraging PheWAS to enhance reverse phenotyping studies | PB4459 |
| Natalie Deuitch | Evaluation of hereditary predispositions to hematologic malignancy in stem cell transplant: A case series | PB5035 |
| Rebekah Waikel | Generative methods for Pediatric Genetics Education. | PB2385 |
| Edmond Wonkam Tingang | Genome-Wide Sequencing Implicates Monogenic Disruption of Vascular Integrity in Childhood-Onset Essential Hypertension | PB4785 |
| Amna Othman | New phenotypic features in Osteoglophonic dysplasia. | PB4848 |
| Stacie Loftus | Resolving missing heritability among individuals with oculocutaneous albinism: A rare haplotype, comprised of two common TYR variants (p.S192Y and p.R402Q), and evidence of OCA individuals with digenic inheritance. | PB4890 |
| November 3, 2023, 3:00 - 5:00 p.m. | ||
| Susan Perksy | Clustering of heritability beliefs across diseases, traits, and individuals. | PB2362 |
| Michael Chambers | Exploring the evolutionary arms race between human PKR and poxvirus K3 | PB1097 |
| Nicola Sugden | Understanding ableism in abstracts for genetic and genomic autism research | PB2437 |
| Erin Mansell | Optimizing generation of human isogenic iPSC lines via CRISPR prime editing | PB3446 |
| Petcharat Leoyklang | Cell-based functional assays for screening of drug candidates for Free Sialic Acid Storage Disorder. | PB2008 |
| Grisel Lopez | Analysis of cardiopulmonary function in patients with Gaucher disease | PB4630 |
| Oleg Shchelochkov | Genomic and Clinical Correlates of Plasma Urate in the “All of Us” Cohort | PB4499 |
| Sarah Silverstein | RNAseq driven diagnosis of NBAS deficiency expands the phenotypic spectrum of disease. | PB3464 |
| David Bernard | Vitamin B12-deficient mice lacking the transcobalamin-vitamin B12 receptor, CD320, exhibit modest changes in balance, locomotor activity, peripheral sensation and vision. | PB4942 |
| November 4, 2023, 2:15 - 4:15 p.m. | ||
| Faith Pangilinan | Performance of a genome-wide association study of neural tube defects allows an unbiased search for genetic contribution. | PB2092 |
| Ted Han | Genome wide CRISPR screen identifies ceramide-1-phosphate transporter as a regulator of the CLEAR gene network | PB3384 |
| Reuben M Buckley | eQTL analysis of canine testes identifies gene expression patterns associated with canine body size. | PB1092 |
| Yixing Han | Common Genetic Variants are Associated with Plasma and Skin Carotenoid Metabolism in Ethnically Diverse US Populations | PB4093 |
| Maha Zaki | Pontocerebellar hypoplasia type 9: A report of 17 new patients | PB4874 |
| Daniel Shriner | The Origin and Global Distribution of the 17q21 Inversion. | PB3126 |
| Allyson Motter | Optimizing Multimodal Single Cell Sequencing to Fine-Map an Alloimmunization Susceptibility Locus in Sickle Cell Disease | PB3447 |
| Vence Bonham | Democratizing Gene Therapy Education for Patient Communities. | PB2369 |
| David Adams | Development of a comprehensive framework for understanding the scope of undiagnosed disease | PB2372 |
| Gustavo Nieto-Alamilla | Hermansky-Pudlak Syndrome: Exploring the therapeutic effect of gene therapy for HPS-1 pulmonary fibrosis | PB2027 |
| Zo Bly | The landscape of clinical sequencing in diverse populations: lessons learned from the Clinical Sequencing Evidence-generating Research (CSER) consortium. | PB2429 |
| Barbara Pusey | Calibrating CADD on a gene level for enhanced causal variant filtration | PB4461 |
| Hua Tan | SoMAS: Finding somatic mutations associated with alternative splicing in human cancers | PB5151 |
| Molly Behan | Hermansky-Pudlak Syndrome: Using AAV vectors to understand the development of HPS1 pulmonary fibrosis | PB4787 |
| Dawn Maynard | Proteomics of Urinary Exosomes Reveals Impaired Protein Trafficking in HPS-1 Renal Epithelial Cells. | PB3456 |
Invited Sessions
| Moderators | Title |
|---|---|
| November 3, 2023, 8:30 - 10:00 a.m | |
| Carolyn Hutter, Ph.D., NHGRI Timothy Reddy, Ph.D., Duke University |
The ENCODE consortium
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| Carles Rotimi, Ph.D., NHGRI Debra Murray, Ph.D., Baylor College of Medicine |
Can we promise precision medicine to all? |
Featured Plenary Abstract Session III
| Moderator/Presenter | Title |
|---|---|
| November 4, 2023, 5:40 - 6:00 p.m. | |
| Moderator: Neil A. Hanchard, M.B.B.S., D.Phil., NHGRI Presenter: Diana Bianchi, M.D., NHGRI |
The NIH IDENTIFY study: A prospective evaluation of pregnant women with prenatal cfDNA sequencing results that suggest maternal malignancy |
Ancillary Events
| NHGRI Staff | Title | Location |
|---|---|---|
| November 1, 2023, 12:00 - 3:00 p.m | ||
| Charles Rotimi | Accelerating Genomics in Africa: Moving Forward Together | Convention Center Room 209AB Level 2 |
| November 2, 2023, 7:00 - 8:30 a.m | ||
| Lisa Chadwick Elena Ghanaim |
Everything You Ever Wanted to Know About Applying for NIH Grants (but were afraid to ask) | Convention Center Room 152AB Level 1 |
ASHG Mobile App
The ASHG 2023 Mobile App can enhance your annual meeting experience, allowing you to easily discover meeting events, sessions, industry partners and much more!
Use the app to network with other attendees and speakers with in-app messaging and connecting to social media.
Build your schedule within the app – accessible even when you’re offline.
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Last updated: November 2, 2023