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Rare Disease Day: What 5 Kids with Low Vision CAN Do
(credit: The Gavin R. Stevens Foundation) In honor of Rare Disease Day, I caught up with some of the wonderful families I’ve met whose children have Leber congenital amaurosis. Only 2 to 3 of every...
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Second Gene Causes Retinoblastoma
This beautiful little boy has heritable retinoblastoma. The white spots in his eyes are from light reflecting off of tumors. In a list of famous genes, RB1 would probably be #1. It’s the tumor...
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Gene Therapy News: Brain, Skin, Eye
Several recent reports on ongoing clinical trials for gene therapies indicate that even preliminary studies with only a handful of patients can yield results with the potential to alter the course of...
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Rare Disease Day 2014: A Parent Fights to Cure Blindness
Kristin Smedley For Rare Disease Day 2014 tomorrow, I’ve asked Kristin Smedley, president and co-founder of the Curing Retinal Blindness Foundation, to guest post. I introduced her here last year, Rare...
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Catching Up With 3 Rare Disease Families
“If you hear hoofbeats, think horses, not zebras,” goes the medical mantra. The 7,000 rare diseases are unicorns. Four-year-old Eliza O’Neill’s viral videos, the subject of my last two blog posts,...
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New Miracle Drugs: What Would You Pay?
Levi Collazo, before and after taking Kalydeco for CF. Levi Collazo, a biology major at Southwestern Oklahoma State University, has cystic fibrosis (CF). “In the first photo, I was making fun of my own...
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Gene Therapy for Blindness Works!
Corey Haas would likely have been blind by now, if not for gene therapy in 2008. The news this week presented at a major vision conference and published in The New England Journal of Medicine about...
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Help Young, Blind Musician Meet Bruce Springsteen!
Last March, my husband Larry and I attended the annual gala for the Curing Retinal Blindness Foundation, near Philadelphia. During the cocktail hour, someone was singing at the piano, “Born to Run.” I...
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Luxturna: A Giant Step Forward for Blindness Gene Therapy – A Conversation...
Three years ago, at a fundraiser near Philadelphia for the Curing Retinal Blindness Foundation, I stood, dumbstruck, as young teen Christian Guardino took the stage and belted out Don’t Stop Believing....
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How rare is rare? And other common FAQs on “Rare Disease Day”
To mark Rare Disease Day 2018 (Feb 28), we repost this explainer from DNA Science blogger, geneticist and rare disease specialist Ricki Lewis to address commonly asked questions about rare diseases....
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