USH Talks: Genetics 101
December 13, 2016
Karmen Trzupek, MS, CGC
In this USH Talk, Karmen provides a basic overview of genetics and Usher syndrome.
Watch this presentation in ASL:
ASL Translations by the Deaf Health Communication and Quality of Life Center, Gallaudet University.
Download the presentation slides.
Karmen Trzupek currently leads the Ocular Genetic Counseling team at InformedDNA. Karmen has been working in the field of ophthalmic genetics since 1997. Working first in a genetics lab at the Casey Eye Institute in Portland, Oregon, she worked on the team that identified the first gene associated with susceptibility to age-related macular degeneration. After earning her Genetic Counseling degree from Northwestern University, Karmen returned to the Casey Eye Institute, specializing in inherited retinal and macular diseases and retinoblastoma. At InformedDNA, Karmen developed the first-ever comprehensive telephone-based genetics service for patients with inherited eye diseases. Karmen has served on multiple committees and advisory boards to develop guidelines and strategies for the incorporation of genetic testing into routine ophthalmology practice. She has a longstanding interest in Usher syndrome, and serves on the Board of Directors of both the Hear See Hope Foundation and the Usher Syndrome Coalition.