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 NewsThursday, March 30, 2017 - 12:15
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.
Fingert Lab NewsFriday, December 2, 2016 - 08:00
Dr. Fingert recently became a member of the American Ophthalmological Society (AOS), a professional association that is committed to "the advancement of ophthalmic science and art.” Read Dr. Fingert’s AOS thesis here.
Fingert Lab NewsWednesday, October 26, 2016 - 17:45
Glaucoma Center faculty Dr. Wallace LM Alward and John H Fingert discuss genetic testing and glaucoma in an article by the American Academy of Ophthalmology’s EyeNet. Read the article here.
Fingert Lab NewsMonday, October 3, 2016 - 09:00
Our genetic analysis of the Ocular Hypertension Treatment Study (OHTS) investigated the effect of genetic risk factors on the probability of participants with high intraocular pressure going on to develop glaucoma. We found that OHTS participants that carry a genetic risk factor in the TMCO1 gene have a significantly higher probability of developing glaucoma. Read more about this study here.
Fingert Lab NewsThursday, September 22, 2016 - 10:45
The American Academy of Ophthalmology announced that Dr. Young Kwon is a recipient of the 2016 Senior Achievement Award for his contributions to the Academy, its scientific and educational programs and to ophthalmology. Read more about this award here.
Fingert Lab NewsFriday, July 1, 2016 - 10:30
A team of ophthalmologists and scientists from around the world are working together to discover the cause of glaucoma that runs in a large family from a small village in Southern India, Kyalapatam. The team includes ophthalmologists from the Aravind Eye Hospitals in India (Drs. Mohideen Kader, R. Ramakrishnan, and S. R. Krishnadas), Hadassah-Hebrew University in Israel (Dr. Sarika Ramugade), and The University of Iowa and Johns Hopkins University in the United States (Drs. Robin and Fingert). Scientists at the Aravind Medical Research Foundation in India (Drs. Sundaresan and Namburi) and the United States (Dr. Fingert and Ben Roos) have teamed up to search for the gene that causes glaucoma in this family. Read more about this research here.
Fingert Lab NewsThursday, June 9, 2016 - 17:30
The Glaucoma Genetics Lab identified the sequestosome (SQSTM1) gene as a top candidate for causing glaucoma that occurs at low intraocular pressure, that is normal tension glaucoma (NTG). The sequestosome gene encodes a protein that has an important role in the cellular processes called autophagy, which is a mechanism by which cells digest some of their contents in times of stress. Autophagy is essential to the health of all cells, but excess autophagy may cause cells to self-destruct. In prior studies we showed that defects in other autophagy genes (i.e. the TBK1 gene) are linked with optic nerve damage in glaucoma. Consequently, it was a good hypothesis that mutations in SQSTM1, another autophagy gene might also cause some cases of glaucoma. However, our study of over 500 subjects did not detect glaucoma-causing mutations in the SQSTM1 gene. Read more about the study here.