Dr. John Fingert, Dr. Todd Scheetz, and Dr. Michael Anderson were awarded an R21 grant to search for the genes that cause glaucoma associated with pigment release from the iris. This award will provide support ($419,000 over two years) for studying whole exomes from 550 pigmentary glaucoma patients and normal subjects.
Fingert Lab NewsWednesday, February 21, 2018 - 12:15
Fingert Lab NewsFriday, January 19, 2018 - 09:45
The Glaucoma Genetics Lab identified a defect in the OPA1 gene that causes optic nerve atrophy that is dominantly inherited in a large family. We created a model of the protein encoded by the OPA1 gene (shown above) and we studied the effects of the disease-causing mutation on the protein structure and function. Read more about the discovery here.
Fingert Lab NewsThursday, January 11, 2018 - 15:00
In partnership with Dr. Alward, Dr. Kwon, Dr. Bettis, and Dr. Sears, the Fingert Lab has collected skin biopsies from over 50 patients with exfoliation glaucoma. The Glaucoma Foundation has provided funds for the lab to study these skin cells to identify abnormalities in function (i.e. energy production or waste management) and their role in exfoliation syndrome.
Fingert Lab NewsThursday, December 7, 2017 - 07:15
In a world-wide collaboration, we used genome-sequencing approaches to precisely define the extent and organization of TBK1 gene duplications and triplications in glaucoma patients. Read more about it here.
Fingert Lab NewsWednesday, July 26, 2017 - 14:45
The Glaucoma Genetics Lab joined Tin Aung, CC Khor, and our colleagues around the world in conducting a genome-wide association study (GWAS) of exfoliation syndrome and glaucoma. This huge multi-center study of 13,620 patients and 109,837 control subjects identified five new genetic risk factors for exfoliation syndrome: POMP, TMEM136, AGPAT1, RBMS3, and SEMA6A. Read more about this discovery here (11.8 MB).
Fingert Lab NewsWednesday, July 12, 2017 - 16:00
We recently published a report about the different types of inherited glaucoma that have an onset during childhood. Read more about this report here.
Fingert Lab NewsThursday, March 30, 2017 - 12:15
The Glaucoma Genetics Lab discovers mutation of the TP63 gene in a patient with Lacrimo-Auriculo-Dento-Digital (LADD) syndrome, which is a condition that causes malformation of ears, teeth, and hands as well as problems with tear formation and dry eye. In this manuscript, we report the genetic cause of the first case of LADD syndrome with glaucoma and thin corneas. Read more about this discovery here.
Fingert Lab NewsFriday, February 17, 2017 - 21:45
Fingert Lab NewsSaturday, December 24, 2016 - 18:45
We recently showed that duplication of the TBK1 gene causes human glaucoma that occurs at low intraocular pressure. In this study, we engineered mice to have an extra copy of the TBK1 gene in its genome. These mice develop glaucoma that occurs at normal eye pressures, just like the glaucoma in our patients with a TBK1 gene duplication. The results of this study provide the strongest proof that mutations in the TBK1 gene cause human glaucoma and the mice will be a powerful resource for studying the causes and testing cures for human glaucoma. Read more about this research here.
Fingert Lab NewsSaturday, December 17, 2016 - 14:30
The lab’s most recent publication shows that MMP19 protease is produced in human optic nerve, where its enzymatic function may have a role in the damage to the optic nerve that occurs in cavitary optic disc anomaly and glaucoma. Read more about it here.