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.
Thu, 03/30/2017 - 12:15
Fri, 02/17/2017 - 21:45
Sat, 12/24/2016 - 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.