The research of Lisa A. Schimmenti, M.D., is focused on genetic conditions associated with hearing and vision loss. Dr. Schimmenti conducts clinical research studies and studies involving zebrafish to model human conditions.
- Genetics of hearing and deafness. Dr. Schimmenti's research focuses on genetic testing to inform medical management for deaf and hard of hearing children and adults. The long-term goal will be to develop precision medicine approaches to improve care based on genetic testing results.
- Zebrafish as a model for human hearing and vision. Zebrafish are small freshwater fish whose genome is nearly 70 percent identical to humans. Zebrafish serve as an important model for human conditions and can be used to screen for novel therapeutics to treat hearing loss and other human genetic conditions.
- Microphthalmia, anophthalmia and coloboma. Microphthalmia, anophthalmia and coloboma cause up to 10 percent of childhood blindness. Through research using zebrafish, Dr. Schimmenti and colleagues are uncovering the basis for this group of human eye defects.
- PAX2 gene and renal coloboma syndrome. Renal coloboma syndrome is a rare condition caused by genetic variants in the PAX2 gene and results in vision loss and end-stage kidney disease. Research in zebrafish is underway to understand the mechanism of how genetic changes in PAX2 leads to eye and kidney defects.
- Undiagnosed and rare diseases. For children and families impacted by rare or undiagnosed genetic conditions, special methods for careful clinical observation and documentation joined with sophisticated genomic and functional techniques can provide an answer to a long diagnostic odyssey. Dr. Schimmenti and members of the Center for Individualized Medicine and the Department of Clinical Genomics are studying ways to improve the approach to diagnosis in patients with rare and undiagnosed diseases.
Significance to patient care
Dr. Schimmenti's research aims to improve patient care through identification of precision medicine based novel therapies for hearing loss and to develop improved algorithms to reach a diagnosis in individuals with undiagnosed and rare diseases.
- Chair, Department of Clinical Genomics, Mayo Clinic, 2018
- Recipient, Leonard Tow Humanism in Medicine Award of the Gold Foundation, 2016
- Regional champion, Early Hearing Detection and Intervention, American Academy of Pediatrics, 2015-present
- Recipient, Best Doctors, Minnesota Monthly, 2014-2015
- Distinguished University Teaching Professor, University of Minnesota, 2013
- Chapter champion, Early Hearing Detection and Intervention, Minnesota American Academy of Pediatrics, 2007-present