ASHG 2026 · Tier 1 Academic

University of Miami at ASHG 2026

Coral Gables, Florida

University of Miami at ASHG 2026 in Montréal: 15 presentations (14 posters, 1 platform talk); 6 research groups.

15
presentations on the program
6
research groups identified
1
sessions invited to or moderated
1
Reviewers’ Choice abstracts

Explore everyone at ASHG 2026 →

OrganizationASHG 2026 Attendance
University of Miami
Coral Gables, Florida
5 Staff Scientists · 4 PIs · 3 Faculty · 3 Postdocs
John P. Hussman Institute for Human Genomicshihg.org
Wet + dry lab
Generates clinical, genomic and functional-genomics data. Analyzes whole-genome and RNA-sequencing data for Alzheimer’s studies with ADSP and AfDC.
2 papers since 2024
Recruiting and retaining persons with suspected Alzheimer's disease and related dementias for genetic studies in selected African countries: Lived realities of researchers
Journal of Alzheimer s Disease, 2026
Genome wide association study meta-analysis of neuropathologic lesions of Alzheimer’s disease and related dementias in a multi-site autopsy cohort
medRxiv, 2026
Source: OpenAlex author A5112156265
Funded by National Institute on Aging / National Institutes of Health, National Institutes of Health +2 more
National Institute on Aging / National Institutes of Health, Alzheimer’s disease X-chromosome study · 2026
“With a new award from the National Institute on Aging, part of the National Institutes of Health (NIH)”
National Institutes of Health, Biorepository · active
“Funded by a $7.6 million grant from the National Institutes of Health (NIH)”
National Institute on Aging / National Institutes of Health, International multi-site Alzheimer’s initiative · five-year
“The new initiative is funded by a $46 million grant awarded to the HIHG by the National Institute on Aging”
+1 more on the lab page
Source: lab pages
9 platforms and techniques
Works with
whole-genome sequencing, single-cell RNA sequencing, single-nucleotide polymorphism arrays, automated biorepository
Techniques
single-cell processing and sequencing, iPSC-derived neural spheroids, survival analysis models, plasma biomarker measurement, functional genomics
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
★ Reviewers’ Choice
Multi-ancestry epigenomic analyses identify ancestry-modulated DNA methylation architecture and aging signatures in Alzheimer’s disease
Epigenomics
Collaborators: Instituto Nacional de Ciencias Neurológicas, University of California, San Francisco +7 more
Alzheimer’s diseaseEpigeneticsMethylation
Poster
Wed Oct 21
2:30 pm
Hi-CANE: Interactive exploration of eHiCA chromatin interaction profiles enables functional interpretation of Alzheimer’s disease GWAS loci
Genetic, Genomic, and Epigenomic Resources and Databases
Collaborators: Case Western Reserve University, Emory University +2 more
Alzheimer’s diseaseBioinformaticsChromatinVariant interpretation
Poster
Wed Oct 21
2:30 pm
Using enhanced Hi-C analyses (eHiCA) to identify likely AD risk genes in GWAS loci with multiple candidates.
Complex Traits and Polygenic Disorders
Alzheimer’s diseaseCandidate geneNeurogeneticsGenomics
Poster
Wed Oct 21
2:30 pm
Infective endocarditis due to Staphylococcus aureus infection is associated with common polymorphisms in the NAV2 gene in a multi-ethnic hospitalized patient sample
Complex Traits and Polygenic Disorders
Collaborators: Duke Medical Center, Duke University
Cardiovascular systemGenetic epidemiologyGenome-wide association studyInfectious disease
Poster
Wed Oct 21
2:30 pm
Disrupted Lipid Homeostasis as a Pathogenic Mechanism in ABCA7-Associated Alzheimer’s Disease Risk
Molecular Effects of Genetic Variation
Collaborators: University of Ibadan, Department of Social Sciences +5 more
Alzheimer’s diseaseGenome editing/CRISPRNeurodegenerationMitochondria
Poster
Thu Oct 22
4:15 pm
Ancestry influences the regulatory architecture of APOE eQTLs revealed by eHiCA in brain and iPSC-derived neural models
Complex Traits and Polygenic Disorders
Collaborators: Wake Forest University, Universidad Científica del Sur +2 more
Alzheimer’s diseaseEpigeneticsExpression quantitative trait lociGene regulation
Poster
Thu Oct 22
4:15 pm
Stress Burden as a Contributor to Preclinical Alzheimer’s Disease Pathology Across Populations
Complex Traits and Polygenic Disorders
Collaborators: Wake Forest University, Case Western Reserve University +3 more
Alzheimer’s diseaseComplex traitsEpidemiologyGene environment interaction
Poster
Thu Oct 22
4:15 pm
Characterization of ABCA7 deletion risk effect in cell models and identification of protective modifiers in ABCA7
Molecular Effects of Genetic Variation
Collaborators: University of Ibadan, Wake Forest University +11 more
Alzheimer’s diseaseGenome editing/CRISPRSNP analysis/discoveryPrecision medicine
Poster
Fri Oct 23
2:30 pm
Peruvian Population Reveals a Stronger APOE4 Risk Effect and Empowers Discovery of a Rare TREM2 Missense Variant in Alzheimer Disease
Complex Traits and Polygenic Disorders
Collaborators: Instituto Nacional de Ciencias Neurológicas, Los Andes Peruvian University +1 more
Alzheimer’s diseaseGenome-wide association studyStatistical genetics
Agrawal Laboratoryorphandiseaseresearch.org
Wet + dry lab~13 people
Studies rare-disease genes with exome and genome sequencing and functional genomics. Uses zebrafish and mouse models to evaluate pathogenicity and treatments for congenital myopathies.
53 papers since 2024
Genome Sequencing for Diagnosing Rare Diseases
New England Journal of Medicine, 2024
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
The American Journal of Human Genetics, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
The American Journal of Human Genetics, 2024
Source: OpenAlex author A5084319647
Funded by National Institutes of Health, NIH
National Institutes of Health, VIGOR Project R01 · active
The NIH's standard multi-year research project grant.
“funded by a $5.4 million R01 grant from the National Institutes of Health (NIH)”
NIH, R01, U19 and UM1 grants · active
The NIH's standard multi-year research project grant.
“I have been funded by various local sources, foundations, and NIH grants, including R01, U19, and UM1 grants.”
Source: lab pages
11 platforms and techniques
Analyzes
Genome sequencing, Exome sequencing, Multimodal sequencing, Long-read sequencing
Techniques
Functional genomics, Zebrafish models, Mouse models, Antisense oligonucleotides, Gene therapy, CRISPR-based editing, Multi-omics
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
AI-assisted variant scoring to improve diagnosis of rare genetic diseases
Artificial Intelligence and Machine Learning
Artificial intelligenceComputational toolsDiagnosticsMachine learning
Institute for Bioethics and Health Policybioethics.miami.edu
Studies ethics in medicine, public health and life sciences. Informs policy on genomics and biomedicine.
14 papers since 2024
Stem cell-based embryo models: The 2021 ISSCR stem cell guidelines revisited
Stem Cell Reports, 2025
Building Better Medicine: Translational Justice and the Quest for Equity in US Healthcare
The American Journal of Bioethics, 2025
Dynamic governance: A new era for consent for stem cell research
Stem Cell Reports, 2024
Source: OpenAlex author A5061458935
Funded by National Centre for Advancing Translational Sciences
National Centre for Advancing Translational Sciences, University of Miami CTSI
“supported in part by the University of Miami CTSI, funded by the National Centre for Advancing Translational Sciences grant 1UL1TR000460.”
Source: lab pages
No openings posted
Talk
Thu Oct 22
1:30 pm
Beyond genetic determinism: Hispanic/Latino community perspectives on Alzheimer’s disease risk
Global and Cultural Perspectives on Genomic Risk and Implementation
Collaborators: Albert Einstein College of Medicine
Ethical, legal, and social implicationsPublic healthAlzheimer’s disease
Center for Molecular Genetics
Works in rare disease and population genetics.
Poster
Thu Oct 22
4:15 pm
Deconvolution of the genetic and phenotypic heterogeneity of NR4A2-related neurodevelopmental disorders
Complex Traits and Polygenic Disorders
NeurodevelopmentalNeurogeneticsRare variantsTranscription factor
Poster
Thu Oct 22
4:15 pm
Asymmetric co-evolution of synaptic and blood–brain barrier gene networks across vertebrate and primate evolution
Evolutionary and Population Genetics
BioinformaticsBrain/nervous systemEvolutionNervous system
Center for Genetic Epidemiology & Statistical Genetics
Works in cancer genetics and population genetics.
Poster
Wed Oct 21
2:30 pm
African and Indigenous American ancestry shape plasma CNS biomarker baselines within and across populations, modifying Alzheimer’s disease trajectories.
Cancer
Collaborators: University of Ibadan, Instituto Nacional de Ciencias Neurológicas +5 more
Alzheimer’s diseaseBioinformaticsGenetic epidemiologyGenetic variation
John P. Hussman Institute for Human Genomics (HIHG) Induced Pluripotent Stem Cell (iPSC) Core
Research group.
Poster
Fri Oct 23
2:30 pm
The protein-truncating SORL1 C1431fs variant drives convergent neuronal and microglial endolysosomal dysfunction in early-onset Alzheimer’s disease
Molecular Effects of Genetic Variation
Collaborators: University of Toronto, Dr. John T. Macdonald Foundation
Alzheimer’s diseaseRare variantsMolecular pathophysiologyNeurogenetics
1 more presenter — research group not yet identified

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