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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).


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

Carles Rotimi, Ph.D., NHGRI
Debra Murray, Ph.D., Baylor College of Medicine
Can we promise precision medicine to all?


2023 Invited Sessions Program (PDF)

2023 Invited Sessions Schedule

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.

Export your schedule to your personal calendar.

Download the Mobile App
ASHG Mobile App

Last updated: November 2, 2023