USH1G Research
Gene: SANS
Year Identified: 2003
Each research project listed below will include a graphic of the research continuum. The gold box indicates where this project falls on the continuum, illustrating its progress towards reaching people living with Usher syndrome, from "Bench to Bedside."
Click here to learn more about the different stages in the research continuum.
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Gene Therapy USH1G
Petit and her team at Institute Pasteur have partially restored inner ear function and removed almost completely the balance defect in a mouse model of USH1G by viral transfer of the wild-type cDNA to the inner ear of mutant mice shortly after birth. The results provide a basis for future clinical trials in humans.
Publications:
August 23, 2017: Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G -
Elucidating the divers functions of the multipotent scaffold-protein SANS - USH1G
The USH1G protein, SANS, is a scaffold protein with various interactions that result in different cellular functions. These researchers have been studying the multiple functions the SANS protein has.
Publications:
USH1G-Related Science News
Therapeutic research begins with testing new therapies in laboratory models of the disease before moving to human trials. However, translating success from models (cells or animals) to humans is challenging because they develop function and symptoms at different rates.
Professor Uwe Wolfrum of the Institute of Molecular Physiology at Johannes Gutenberg University Mainz and Professor Reinhard Lührmann at the Max Planck Institute for Biophysical Chemistry in Göttingen have identified a new pathway that leads to Usher syndrome (USH).
This 2010 review dives into the genetics of pathological mechanisms of Usher syndrome.
What this means for Usher syndrome: Research has come a long way since 2010!
