A MULTI-STAGE TRANSLATIONAL APPROACH IN CIFASD IDENTIFIED ASSOCIATION OF HTT WITH OCULAR MEASURES IN HETEROZYGOUS MICE AND HUMANS WITH PRENATAL ALCOHOL EXPOSURE

L Wetherill, K Boschen, M Abreu, A Erickson, KL Jones, M Suttie, EP Riley, T Foroud, S Parnell, CIFASD, T Schwantes-An

Indiana University, Department of Medical and Molecular Genetics, Indianapolis, IN; SUNY Upstate Medical University, Department of Neuroscience and Physiology, Syracuse, NY

NARRATION

L Wetherill, K Boschen, M Abreu, A Erickson, KL Jones, M Suttie, EP Riley, T Foroud, S Parnell, CIFASD, T Schwantes-An . A MULTI-STAGE TRANSLATIONAL APPROACH IN CIFASD IDENTIFIED ASSOCIATION OF HTT WITH OCULAR MEASURES IN HETEROZYGOUS MICE AND HUMANS WITH PRENATAL ALCOHOL EXPOSURE . Uploaded to https://www.posterpresentations.com/research/posters/VH-94786/. Submitted on June 18, 2025.

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Poster - #VH-94786 - Keywords: prenatal alcohol exposure, ocular measures, mouse model, human, GWAS, WES, FASD, HTT, translational

A MULTI-STAGE TRANSLATIONAL APPROACH IN CIFASD IDENTIFIED ASSOCIATION OF HTT WITH OCULAR MEASURES IN HETEROZYGOUS MICE AND HUMANS WITH PRENATAL ALCOHOL EXPOSURE

L Wetherill, K Boschen, M Abreu, A Erickson, KL Jones, M Suttie, EP Riley, T Foroud, S Parnell, CIFASD, T Schwantes-An
Indiana University, Department of Medical and Molecular Genetics, Indianapolis, IN; SUNY Upstate Medical University, Department of Neuroscience and Physiology, Syracuse, NY

ABSTRACT:
We used the following translational strategy to confirm that HTT interacts with PAE to alter susceptibility to ocular-related dysmorphology.

(1) Do functional variants in a gene  FAS features vs NO features in humans with prenatal alcohol exposure (PAE)?

(2) Does knockout model of that gene  FAS-like features in mice? If so, what features?

(3) Are the features observed in mice also seen in humans for a particular genotype of a variant in that gene, when there is PAE but not when there is no PAE?