The choreography of development is a delicate dance. Beginning in utero, chromosomes, DNA, genes and RNA twirl, tap, and sashay their way in a precise pattern. A misstep or a missing step that changes the routine causes body and brain functions to go awry – as is the case with many intellectual and developmental disabilities (IDD). Fragile X syndrome is the most common known single-gene cause of inherited IDDs, including autism. Scientists know the misstep in this syndrome is in the gene FMR1. FMR1 is responsible for making the protein FMRP, which is necessary for typical brain development.
Dr. Michael Telias was invited to participate in the Emerging Vision Scientists Day, organized by the National Alliance for Eye and Vision Research. Over the course of 2 days, more than 20 young scientists investigating eye and vision diseases, came to Washington D.C. to ask Congress to increase funding for the National Eye Institute. Read more at NAEVR/AEVR website.
The Del Monte Institute for Neuroscience & the Schmitt Foundation have awarded the Telias lab the Pilot Project Program Grant, which will be used to study whether blockade of purinergic signaling in retinal ganglion cells can rescue the effects of remodeling, caused by retinal degeneration in mouse models of retinitis pigmentosa and photo-toxicity. Read more about the Schmitt Program on Integrative Neuroscience (SPIN).
The Schwartz Undergraduate Research Fund awarded Mr. Alan Abraham the Discover Grant to spend the summer at the Telias Lab researching the molecular mechanisms of inner retinal remodeling in mice with inherited photoreceptor dystrophy. Alan's project focuses on the role of Tyrosine Kinase Receptors in retinal ganglion cells undergoing remodeling.
DISULFIRAM TREATMENT FOR VISION IMPROVEMENT
Animal and cell studies show that as retinal cells die in degenerative eye diseases, they make other cells hyperactive, creating noise that further obscures vision. Tests to prove this in humans are hard to conduct, however. Antabuse, an approved drug used to wean people off alcohol, should tamp down this hyperactivity and conclusively show whether hyperactivity plays a role in humans, potentially driving work to find better drugs to help those with progressive vision loss.