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!
Ion treatments for cardiac arrhythmia — Non-invasive alternative to catheter-based surgery
20.01.2017 | GSI Helmholtzzentrum für Schwerionenforschung GmbH
Seeking structure with metagenome sequences
20.01.2017 | DOE/Joint Genome Institute
An important step towards a completely new experimental access to quantum physics has been made at University of Konstanz. The team of scientists headed by...
Yersiniae cause severe intestinal infections. Studies using Yersinia pseudotuberculosis as a model organism aim to elucidate the infection mechanisms of these...
Researchers from the University of Hamburg in Germany, in collaboration with colleagues from the University of Aarhus in Denmark, have synthesized a new superconducting material by growing a few layers of an antiferromagnetic transition-metal chalcogenide on a bismuth-based topological insulator, both being non-superconducting materials.
While superconductivity and magnetism are generally believed to be mutually exclusive, surprisingly, in this new material, superconducting correlations...
Laser-driving of semimetals allows creating novel quasiparticle states within condensed matter systems and switching between different states on ultrafast time scales
Studying properties of fundamental particles in condensed matter systems is a promising approach to quantum field theory. Quasiparticles offer the opportunity...
Among the general public, solar thermal energy is currently associated with dark blue, rectangular collectors on building roofs. Technologies are needed for aesthetically high quality architecture which offer the architect more room for manoeuvre when it comes to low- and plus-energy buildings. With the “ArKol” project, researchers at Fraunhofer ISE together with partners are currently developing two façade collectors for solar thermal energy generation, which permit a high degree of design flexibility: a strip collector for opaque façade sections and a solar thermal blind for transparent sections. The current state of the two developments will be presented at the BAU 2017 trade fair.
As part of the “ArKol – development of architecturally highly integrated façade collectors with heat pipes” project, Fraunhofer ISE together with its partners...
19.01.2017 | Event News
10.01.2017 | Event News
09.01.2017 | Event News
20.01.2017 | Awards Funding
20.01.2017 | Materials Sciences
20.01.2017 | Life Sciences