https://ehsanmisaghi.com/tags/retinal-dystrophy/Retinal DystrophyHugoBlox Kit (https://hugoblox.com)en-usSun, 01 Jan 2023 00:00:00 -0700https://ehsanmisaghi.com/media/icon.svghttps://ehsanmisaghi.com/tags/retinal-dystrophy/https://ehsanmisaghi.com/projects/pikfyve/Sun, 01 Jan 2023 00:00:00 -0700https://ehsanmisaghi.com/projects/pikfyve/<h2 id="what-problem-are-we-solving">What problem are we solving?</h2> <p>Given its role in phagocytosis and its high expression in the retina, PIKFYVE is hypothesized to be important for the functions of the retinal pigment epithelium. With the increases in the applications of genetic sequencing and the identification of genetic variants, it is important to identify genes/proteins that have important roles in the retina in order to identify the causative genes for inherited retinal diseases. The field needs clearer mechanistic evidence and a defensible path from cellular phenotype to therapeutic hypotheses.</p> <h2 id="what-we-are-doing">What we are doing</h2> <ul> <li>Characterizing relevant cellular pathways and phenotypes (wet-lab + analysis)</li> <li>Connecting mechanistic findings to clinically meaningful readouts and potential interventions</li> <li>Translational framing suitable for clinician audiences and future therapeutic work</li> </ul> <h2 id="my-role">My role</h2> <p>Primary experimental design/execution, analysis, interpretation, and manuscript development with emphasis on clinical relevance.</p> <h2 id="current-status">Current status</h2> <p>Core manuscript substantially developed; targeted experiments/analyses and writing integration ongoing.</p> <h2 id="outputs">Outputs</h2> <ul> <li>Review article</li> <li>Primary research manuscript</li> <li>Conference abstracts/talks/posters</li> </ul>