Genetics | Ehsan Misaghi

Twists and Turns: What Retinal Vessel Tortuosity is Trying to Tell Us

Fri, 05 Dec 2025 00:00:00 +0000

Invited Ophthalmology Grand Rounds presentation on retinal vessel tortuosity and COL4A1-related disease, focusing on ocular phenotype, diagnostic strategy, and translational validation (functional characterization of a COL4A1 Variant)

A novel splice variant in COL4A1 results in retinal arterial tortuosity and HANAC syndrome in a multi-generational family

Tue, 01 Jul 2025 00:00:00 +0000

A novel splice variant in COL4A1 results in retinal arterial tortuosity and HANAC syndrome in a multi-generational family

Sun, 01 Jun 2025 00:00:00 +0000

A novel splice variant in COL4A1 results in retinal arterial tortuosity and HANAC syndrome in a multi-generational family

Sat, 24 May 2025 00:00:00 +0000

Investigating the Role of PIKFYVE in the Retinal Pigment Epithelium

Tue, 06 May 2025 00:00:00 +0000

Conference abstract presented at ARVO (Salt Lake City, UT, USA).

Investigating the Role of PIKFYVE in the Retinal Pigment Epithelium

Mon, 01 Jul 2024 00:00:00 +0000

Research presentation delivered at the Vision Health Research Network Summer School.

Novel Contributors to Superior Coloboma and the Closure of the Superior Ocular Sulcus

Tue, 01 Nov 2022 00:00:00 +0000

Refereed abstract from my work on superior coloboma using zebrafish as a model organism, presented at the CSCI/CITAC Joint Meeting (Montreal, Canada).

Applications of AI in Genetics and Genomics

Mon, 11 Apr 2022 04:33:30 +0000

This is the Applications of AI in Genomic Medicine lecture I gave as part of the AI in Medicine Course for the AI in Medicine Student Society (AIMSS) in 2022. This lecture was a part of the Applications of AI in Medicine stream.

Teaching Assistant - BIOL 207 (Molecular Genetics and Heredity)

Sat, 01 Jan 2022 00:00:00 -0600

Overview

Supported undergraduate learning in BIOL 207: Molecular Genetics and Heredity at the University of Alberta, for which I was nominated for by my students and received teaching awards. The course covers the chromosomal and molecular basis of gene transmission and function, mapping strategies, gene isolation approaches, and regulatory mechanisms in prokaryotes and eukaryotes.

Responsibilities

Facilitated student learning in tutorials/labs and supported concept mastery
Demonstrated methods/approaches and provided real-time feedback
Supported assessment and learner success through structured guidance and marking

Key takeaways

Genetics concepts “stick” when students practice moving between mechanism → prediction → interpretation
Clear feedback loops (what to fix, why it matters, how to verify) accelerate learning and confidence
Good assessment support emphasizes reasoning and evidence hygiene, not memorization