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Archive for the Genetics Category

ARVO 2016: High-School Sophomore Finds Gene Mutation in Family with Choroideremia

Aditya A. Guru explaining his posterWhile I was perusing posters on genetic research in the exhibit hall at the ARVO annual meeting, Radha Ayyagari, Ph.D., an FFB-funded genetic scientist from the University of California, San Diego took me by the arm and said, “Come with me. There’s something you really need to see.”
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For Rare Disease Day – The Many Benefits of Genetic Research

Rare Disease Day logoIt’s apropos that Rare Disease Day 2016 will be held on the rarest day on the calendar—Leap Day, February 29.

However, collectively, rare diseases are not uncommon. About 30 million Americans, nearly 10 percent of our population, are affected by one of 7,000 rare diseases. They’re an important public health issue, making it incumbent upon us to work hard to eradicate them.
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Retinal Researchers May Be Looking for You

A patient registers with My Retina Tracker.One of the biggest challenges in overcoming rare retinal diseases is, well, that they’re rare. There’s limited information about the conditions in humans, making it difficult for researchers to understand why they cause blindness and develop vision-saving treatments.
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The Gift of Sight – Matched!

Your donation doubledIt’s holiday time, the giving season, when people not only buy gifts for family, friends and co-workers, but also donate to worthy causes—of which there are many. But, if you’ll permit me, I’d like to make a pitch for the Foundation Fighting Blindness (FFB), which happens to be offering a Holiday Board Match, meaning every donation is doubled.
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The Challenge Continues: FFB Chairman Gordon Gund is Interviewed on CNBC

Gordon Gund on CNBC in NantucketGordon Gund, who’s held in extremely high esteem by people inside and outside the Foundation Fighting Blindness (FFB), has been completely blind for decades. He lost his eyesight to a disease called retinitis pigmentosa in his thirties. Not that it slowed him down much. Among other accomplishments, he’s been a financier, venture capitalist, sports-team owner and sculptor. And, of course, he’s a co-founder of FFB and its chairman of the board.
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Donated Eyes Help Researchers Better Understand Retinal Diseases

a retina affected by RPMany people with retinal conditions such as retinitis pigmentosa (RP) and age-related macular degeneration don’t think they can donate their eyes after they’ve passed away. They can’t imagine anyone would want eyes that didn’t work well. But in reality, affected eyes are in big demand.
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A Surprising Number of Carrier Females are Affected by X-Linked Retinitis Pigmentosa

Calico catX-linked retinitis pigmentosa (XLRP) is an inherited retinal disease causing significant vision loss, sometimes complete blindness, in males. Females are often considered to be unaffected carriers of the condition, with a 50 percent chance of passing XLRP to their sons.
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Sun and Funds: FFB’s Annual Summer Campaign

Summer Challenge web pageWe all know that Memorial Day is not, technically, the first day of summer. But seeing as we like to stretch summer out as much as possible, it only makes sense to kick it off… well… a few weeks early. The same premise is behind FFB’s Summer Challenge to End Blindness campaign, which began Memorial Day weekend and continues through the upcoming season.
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The Top Research Advancements of 2014: How Fast Can We Go?

lab photoAs we approach 2015, it’s inspiring to look back on 2014 and recount the numerous advancements we’ve made in developing vision-saving treatments and cures. When I joined the Foundation nearly a decade ago, virtually nothing was in a human study. We were curing lots of blind mice, and clinical trials seemed elusive. But, today, more than a dozen promising therapies are being evaluated in people, and at least a dozen more clinical trials are expected to begin in the next few years.
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Genetics 101: How Some Retinal Diseases are Inherited

Egg and spermLong before the advent of genetic testing, or even knowledge of DNA and RNA, astute observers noticed that many traits were passed from one generation to another. But it still can be difficult to understand why some people inherit a genetic disease and others do not. Also, it’s often not clear which family members are at risk of inheriting a condition.
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