Custom Ampliseq Targeted Sequencing Panel For Orphan Pediatric Retinal Diseases: Norrie Disease, FEVR, and Retinoschisis

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Authors

Michael Sun, Oakland University William Beaumont School of Medicine Medical Student
Wendy Dailey
Amanda Petrilli Cicerone
Jennifer Felisky
Kaylee Moyer
Naomi Haque
Alvaro Guzman
Kendra Mellert
Kimberly Drenser, Beaumont Health
Kenneth P. Mitton

Description

INTRODUCTION
DNA-sequencing is not readily available in countries with little research resources or where health insurance does not cover the costs. This is especially true for very rare (orphan) inheritable retinal diseases. We wanted to develop a rapid targeted-sequencing protocol for eight genes involved in Familial Exudative Vitreo-Retinopathy (FEVR), Norrie Disease, and Retinoschisis, at greatly reduced cost.

Publication Date

5-2-2022

Disciplines

Ophthalmology

Recommended Citation

Sun M, Dailey W, Cicerone AP, Felisky J, Moyer K, Haque N et al. [Drenser K] Custom ampliseq targeted sequencing panel for orphan pediatric retinal diseases: Norrie disease, FEVR, and retinoschisis. Poster presented at: Oakland University William Beaumont School of Medicine Embark Capstone Colloquium; 2022 May 2; Rochester Hills, MI.

Comments

The Embark Capstone Colloquium at the Oakland University William Beaumont School of Medicine, Rochester Hills, MI, May 2, 2022.