MSTP Learning Community: Flocks

MSTP Entry Date: June 5, 2017

PhD Program:

Molecular Medicine

Mentor:

Richard Smith, MD
Lab site

Novel exons and their implications on hereditary hearing loss

Hearing loss is the most common sensory deficit. In the US, hearing loss is usually genetic. Recent single cell RNA sequencing of the cochlea has found unannotated exons within deafness-associated genes. In my current work, I am performing studies to determine the function of a subset of these novel exons via mouse models and patient cohorts.

Teaching:

2021 Fall - TA for Biochemistry (BIOC:3110)

Mentorship: 

2022 - SUMR Program - Flocks Community Student Advisor

Education:

2015 - BS, Sports Medicine - Pepperdine University

Publications:

ORCiD:  0000-0003-3123-5091

Chin JJ, Behnam B, Davids M, Sharma P, Zein WM, Wang C, Chepa-Lotrea X, Gallantine WB, Toro C, Adams DR, Tifft CJ, Gahl WA, Malicdan MCV. Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients. Mol Genet Metab. 2019 Feb;126(2):188-195. doi: 10.1016/j.ymgme.2018.12.001. Epub 2018 Dec 3. PubMed PMID: 30528883 (Based on pre-MSTP research).