https://ehsanmisaghi.com/tags/ocular-genetics/Ocular GeneticsHugoBlox Kit (https://hugoblox.com)en-usSat, 01 Feb 2025 00:00:00 -0700https://ehsanmisaghi.com/media/icon.svghttps://ehsanmisaghi.com/tags/ocular-genetics/https://ehsanmisaghi.com/publication/misaghi-genetic-variants-pikfyve-2025/Sat, 01 Feb 2025 00:00:00 -0700https://ehsanmisaghi.com/publication/misaghi-genetic-variants-pikfyve-2025/https://ehsanmisaghi.com/projects/col4a1/Mon, 01 Jan 2024 00:00:00 -0700https://ehsanmisaghi.com/projects/col4a1/<h2 id="what-problem-are-we-solving">What problem are we solving?</h2> <p>COL4A1-associated disease spans multisystem vasculopathy with variable penetrance and under-recognized ophthalmic manifestations. Clinicians need clearer phenotype patterns, evaluation guidance, and prognostic framing.</p> <h2 id="what-we-are-doing">What we are doing</h2> <ul> <li>Synthesizing genotype–phenotype evidence with an ophthalmology-forward lens</li> <li>Identifying clinical “red flags” and workup considerations relevant to eye care</li> <li>Translational framing for counseling, surveillance, and interdisciplinary management</li> </ul> <h2 id="my-role">My role</h2> <p>Lead drafting and synthesis, organization of evidence, and integration with ongoing patient-facing work in the lab/clinic ecosystem.</p> <h2 id="current-status">Current status</h2> <p>Near-complete project with paper writing and final integration underway.</p> <h2 id="outputs">Outputs</h2> <ul> <li>Review / synthesis manuscript</li> <li>Clinical-facing tables/figures for phenotype anchoring and management considerations</li> <li>Functional study manuscript outlining a novel genetic variant in COL4A1 in a multigenerational family</li> </ul>