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Combined Federal Campaign

Kicking Off 2019 Combined Federal Campaign

Posted on by Dr. Francis Collins

CFC Kickoff 2019
On October 16, I joined everybody under the tent for the NIH 2019 Combined Federal Campaign (CFC) Kickoff. The NIH’s National Eye Institute (NEI) is my co-chair for this year’s campaign, and our theme is: “Show Some Love.” During the kickoff, I took this photo with (l-r) Diane Rehm, the popular retired radio talk show host who was our guest speaker; Santa Tumminia, acting NEI director; and Brian Trent, NEI’s associate director for management and executive officer. The CFC annual campaign collects charitable donations from federal employees to support charities and causes of each donor’s choice. The NIH’s goal this year is to raise $2 million. Credit: Leslie E. Kossoff/LK Photos.

Snapshots of Life: Lighting up the Promise of Retinal Gene Therapy

Posted on by Dr. Francis Collins

mouse retina

Caption: Large-scale mosaic confocal micrograph showing expression of a marker gene (yellow) transferred by gene therapy techniques into the ganglion cells (blue) of a mouse retina.
Credit: Keunyoung Kim, Wonkyu Ju, and Mark Ellisman, National Center for Microscopy and Imaging Research, University of California, San Diego

The retina, like this one from a mouse that is flattened out and captured in a beautiful image, is a thin tissue that lines the back of the eye. Although only about the size of a postage stamp, the retina contains more than 100 distinct cell types that are organized into multiple information-processing layers. These layers work together to absorb light and translate it into electrical signals that stream via the optic nerve to the brain.

In people with inherited disorders in which the retina degenerates, an altered gene somewhere within this nexus of cells progressively robs them of their sight. This has led to a number of human clinical trials—with some encouraging progress being reported for at least one condition, Leber congenital amaurosis—that are transferring a normal version of the affected gene into retinal cells in hopes of restoring lost vision.

To better understand and improve this potential therapeutic strategy, researchers are gauging the efficiency of gene transfer into the retina via an imaging technique called large-scale mosaic confocal microscopy, which computationally assembles many small, high-resolution images in a way similar to Google Earth. In the example you see above, NIH-supported researchers Wonkyu Ju, Mark Ellisman, and their colleagues at the University of California, San Diego, engineered adeno-associated virus serotype 2 (AAV2) to deliver a dummy gene tagged with a fluorescent marker (yellow) into the ganglion cells (blue) of a mouse retina. Two months after AAV-mediated gene delivery, yellow had overlaid most of the blue, indicating the dummy gene had been selectively transferred into retinal ganglion cells at a high rate of efficiency [1].