The study by Kang Zhang, MD, PhD, Director of the Institute for Genomic Medicine and professor of ophthalmology and human genetics at the Shiley Eye Center at UC San Diego and J. Fielding Hejtmancik, MD, PhD, medical officer and chief of the Ophthalmic Molecular Genetics Section at the National Eye Institute, National Institutes of Health, along with the Barbados Family Study Group and colleagues in the United States, China and Barbados, will be published in the early online edition of the Proceedings of the National Academy of Science (PNAS) the week of September 21.
Glaucoma is the leading cause of blindness among blacks, affecting close to five percent of the population. The researchers chose to conduct the study in the Afro-Caribbean population of Barbados, where the incidence of glaucoma is double that figure – nearly 10 percent of all residents of the island – and where there is a strong genetic predisposition.
Known as "the silent thief of sight," glaucoma is a neurodegenerative disease that causes the death of ganglion cells of the retina, resulting in gradual and irreversible loss of peripheral vision. Reducing intra-ocular pressure can slow the progression to blindness, but there is no cure or reversal for glaucoma.
"The cause and progression of glaucoma are poorly understood, although we know there is a strong genetic predisposition to the disease," said co-author Robert N. Weinreb, MD, Director of the Hamilton Glaucoma Center and Distinguished Professor of Ophthalmology at UC San Diego.
"We have now identified very common gene variants that have a dramatic impact on an individual's risk for developing glaucoma," Zhang added. "These gene variants are present in 40 percent of individuals with glaucoma in the Barbados population and explains nearly one-third of their genetic risk for the disease. This study should give us a better handle on earlier diagnoses and new therapies."
Looking at 249 patients with glaucoma and 128 control subjects, the research built on early studies which scanned the entire human genome. The scientists then homed in on a particular segment of the human genome, and finally localized the gene on chromosome 2.
"Once we understand the specific gene or protein structure that is altered in the disease, we are one step closer to developing gene or stem cell-based therapies to treat glaucoma," said Zhang. Identifying the gene variants can also provide a more accurate and earlier diagnosis, allowing early intervention to slow glaucoma's progression.
Additional contributors to the study include researchers at the University of Utah; Yale University; Stony Brook University; University of the West Indies; Qingdao University, Qingdao, China; Sichuan Provincial People's Hospital, China; and West China Hospital, Sichuan University.
This work was supported by grants from the National Eye Institute of National Institutes of Health, Research to Prevent Blindness and the Burroughs Wellcome Fund.
Debra Kain | EurekAlert!
The world's tiniest first responders
21.06.2018 | University of Southern California
A new toxin in Cholera bacteria discovered by scientists in Umeå
21.06.2018 | Schwedischer Forschungsrat - The Swedish Research Council
In a recent publication in the renowned journal Optica, scientists of Leibniz-Institute of Photonic Technology (Leibniz IPHT) in Jena showed that they can accurately control the optical properties of liquid-core fiber lasers and therefore their spectral band width by temperature and pressure tuning.
Already last year, the researchers provided experimental proof of a new dynamic of hybrid solitons– temporally and spectrally stationary light waves resulting...
Scientists from the University of Freiburg and the University of Basel identified a master regulator for bone regeneration. Prasad Shastri, Professor of...
Moving into its fourth decade, AchemAsia is setting out for new horizons: The International Expo and Innovation Forum for Sustainable Chemical Production will take place from 21-23 May 2019 in Shanghai, China. With an updated event profile, the eleventh edition focusses on topics that are especially relevant for the Chinese process industry, putting a strong emphasis on sustainability and innovation.
Founded in 1989 as a spin-off of ACHEMA to cater to the needs of China’s then developing industry, AchemAsia has since grown into a platform where the latest...
The BMBF-funded OWICELLS project was successfully completed with a final presentation at the BMW plant in Munich. The presentation demonstrated a Li-Fi communication with a mobile robot, while the robot carried out usual production processes (welding, moving and testing parts) in a 5x5m² production cell. The robust, optical wireless transmission is based on spatial diversity; in other words, data is sent and received simultaneously by several LEDs and several photodiodes. The system can transmit data at more than 100 Mbit/s and five milliseconds latency.
Modern production technologies in the automobile industry must become more flexible in order to fulfil individual customer requirements.
An international team of scientists has discovered a new way to transfer image information through multimodal fibers with almost no distortion - even if the fiber is bent. The results of the study, to which scientist from the Leibniz-Institute of Photonic Technology Jena (Leibniz IPHT) contributed, were published on 6thJune in the highly-cited journal Physical Review Letters.
Endoscopes allow doctors to see into a patient’s body like through a keyhole. Typically, the images are transmitted via a bundle of several hundreds of optical...
13.06.2018 | Event News
08.06.2018 | Event News
05.06.2018 | Event News
21.06.2018 | Earth Sciences
21.06.2018 | Life Sciences
21.06.2018 | Earth Sciences