COL4A1: Ocular and Systemic Vasculopathy — Genotype–Phenotype Correlation Analysis and Clinical Translation
January 1, 2024
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1 min read
What problem are we solving?
COL4A1-associated disease spans multisystem vasculopathy with variable penetrance and under-recognized ophthalmic manifestations. Clinicians need clearer phenotype patterns, evaluation guidance, and prognostic framing.
What we are doing
- Synthesizing genotype–phenotype evidence with an ophthalmology-forward lens
- Identifying clinical “red flags” and workup considerations relevant to eye care
- Translational framing for counseling, surveillance, and interdisciplinary management
My role
Lead drafting and synthesis, organization of evidence, and integration with ongoing patient-facing work in the lab/clinic ecosystem.
Current status
Near-complete project with paper writing and final integration underway.
Outputs
- Review / synthesis manuscript
- Clinical-facing tables/figures for phenotype anchoring and management considerations
- Functional study manuscript outlining a novel genetic variant in COL4A1 in a multigenerational family
Authors
Ehsan Misaghi
(he/him)
Clinician-Scientist Trainee
Ehsan Misaghi is an MD/PhD Candidate at the University of Alberta working at the intersection of ophthalmology, genetics, and artificial intelligence.
His research focuses on inherited retinal disease and genotype–phenotype correlations in ocular disease, with an emphasis on mechanistic insight and translational relevance.
Alongside research, he builds and evaluates practical AI tools for clinical and educational settings, and he leads medical AI education, research, and community-building through the AI in Medical Systems Society (AIMSS) and related initiatives.
His goal is to advance rigorous, clinically useful research and translate it into improved diagnostics, care pathways, and responsible innovation.