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Posts tagged RD2016

To Treat an Inherited Retinal Disease, It’s Good to Know Exactly What’s Wrong with the Gene

Jason Comander, M.D., Ph.D.In simple terms, genes are like recipes for making proteins. All the cells in our bodies “read” genetic information so they can make the critical proteins necessary to stay healthy and function properly. If there is a mistake in a gene — that is, a misspelling — a protein might not be made correctly and cells in the retina might degenerate and cause vision loss.

These misspellings are called mutations, and just like a mistake in a recipe, some mutations are more devastating than others. For example, when baking a cake, let’s say there is an error in the recipe. It incorrectly calls for a quarter cup of sugar, when the right amount is a half of a cup. The cake may not taste great, but it is still edible. But let’s say the instruction for adding flour is omitted entirely. Then the cake will be a complete failure and go uneaten.

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Building a Wiring Diagram for the Retina to Help Researchers Save and Restore Vision

Connectome image

An image of an electrically connected patch of one single class of retinal neurons that signal brightness for the visual system. Each single cell is shaped like a spider or octopus and connected to its neighbors. This is the first visualization of such a population of cells that has been untangled from the complete connectome.

In simple terms, the retina is a thin, delicate layer of tissue lining the back of the eye that captures light like film or digital sensors in a camera. But the retina is actually an incredibly complex network of hundreds of millions cells that process light, converting it into electronic signals, which are sent to the brain and used to create the images we see. And, understanding the pathways of this gargantuan network — and how they are rewired with aging and disease — is helpful in trying to save and restore vision.

“If you are going to fix cells in the retina, you have to know how they communicate,” said Robert E. Marc, Ph.D., University of Utah, in the opening keynote lecture at the RD2016 meeting in Kyoto, Japan. Held September 19-24, RD2016 is the largest research conference dedicated exclusively to retinal degenerations, and funded in part by the Foundation Fighting Blindness.
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Nobel-Prize-Winning Stem-Cell Researcher Delivers Keynote at FFB-Funded Conference in Kyoto

Shinya Yamanaka, M.D., Ph.D.It was only 10 years ago that Shinya Yamanaka, M.D., Ph.D., discovered how to convert a person’s skin cells into stem cells by tweaking just four genes. The historical breakthrough landed Dr. Yamanaka the 2012 Nobel Prize in Physiology-Medicine, because it meant that patients could be their own stem-cell donors. Known as induced pluripotent stem cells (iPSC), they are now being used to develop powerful therapies and drug-screening tools including those for the retina.

To the delight of nearly 300 retinal researchers from around the world attending the FFB-funded RD2016 meeting, September 19-24 in Kyoto, Japan, Dr. Yamanka discussed his early clinical trial for iPSC-derived retinal pigment epithelial (RPE) cells for a 78-year-old woman with advanced wet age-related macular degeneration (AMD). The study met its main goal – safety – and he and his collaborator, Masayo Takahashi, M.D., Ph.D., are planning to treat additional patients in the near future.

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Embrace Your Exceptions: A Mantra for Understanding Retinal-Disease Inheritance

Stephen Daiger, Ph.D. and colleague Lori Sullivan, Ph.D.Inherited retinal diseases are difficult to understand merely because they’re so rare and diverse. More than 250 genes, when mutated, can cause them, yet collectively, they affect only 200,000 people in the United States.

Their widely varying impact on vision adds to the challenge. For example, the youngest sibling in a family may be nearly blind from retinitis pigmentosa (RP), while his or her older brother or sister with the same RP gene mutation can have near normal vision.

But as FFB-funded retinal geneticist Stephen Daiger, Ph.D., discussed at the RD2016 meeting in Kyoto, Japan, the complex and elusive nature of these conditions can also extend to the way they are passed down in families, making diagnosis and prognosis quite challenging. Dr. Daiger was one of nearly 300 retinal researchers who gathered September 19-24, 2016, for the world’s largest conference focused exclusively on retinal degenerative diseases. The conference was supported in-part by FFB.
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