Dr. Fingert gave a lecture entitled “Stem Cell and transgenic mouse-based studies of normal tension glaucoma” at the ISER biannual meeting. He presented new advances in studies of the TBK1 gene and glaucoma that occurs at low intraocular pressure using cell cultures and a mouse model of disease.
This Research to Prevent Blindness award will be used to investigate the causes of glaucoma that occur in people with low intraocular pressure (normal tension glaucoma). The Fingert lab recently discovered that extra copies of the TBK1 gene (gene duplications or triplications) are one of the most common known causes of normal tension glaucoma. The RPB Physician Scientist Award will be used to support studies investigating how TBK1 gene duplications lead to glaucoma and vision loss.
Members of the Glaucoma Genetics Lab attended the annual meeting of the Association for Research in Vision and Ophthalmology (ARVO), one of the premier ophthalmology research meetings. Dr. Fingert gave a paper presentation at the Glaucoma Genetics session that was entitled “TMCO1 is associated with POAG in the Ocular Hypertension Treatment Study (OHTS)”. Graduate student Mark Christopher’s presentation entitled "Automated discovery of optic nerve head structural features from image and genetic data” won the prestigious Member in Training Outstanding Poster Award.
Ralph Hazlewood, a graduate student in the Glaucoma Genetics Lab, presented his research into the genetic basis of cavitary optic disc anomaly (CODA) at the University of Iowa’s 2014 Opthalmology Research Day. CODA is a disease of the optic nerve and has some clinical similarities to normal tension glaucoma. His presentation, entitled "Triplication of Upstream Regulatory Sequences Leads to Gene Dysregulation in Patients with Cavitary Optic Disc Anomaly” was awarded the 2014 Leinfelder Award for research excellence.
Grant awarded to investigate the mechanisms by which defects in the TBK1 gene lead to glaucoma. Learn more about the Glaucoma Foundation here.
Dr. Fingert presented glaucoma and genetics research in two symposia at the 2014 World Ophthalmology Congress in Tokyo, Japan. He presented recent data about the TBK1 gene, abnormalities in autophagy, and the development of glaucoma. He also presented a review of epigenetics and eye disease (how modification of our chromosomes may lead to increased susceptibility to disease).
The Glaucoma Genetics Lab discovers a novel TBK1 gene duplication in normal tension glaucoma patients from New York. Read more about this report here.
Research that identified a link between glaucoma genes and vascular tone was recently published in the journal Eye. Read more about this report here.
