Rare Disease Day: What 5 Kids with Low Vision CAN Do
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 100,000 newborns has LCA. These parents talk...
View ArticleSecond Gene Causes Retinoblastoma
In a list of famous genes, RB1 would probably be #1. It’s the tumor suppressor gene whose “loss of function” is behind the childhood eye cancer retinoblastoma, and that Alfred Knudson investigated to...
View ArticleGene 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...
View ArticleRare Disease Day 2014: A Parent Fights to Cure Blindness
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 Disease Day:...
View ArticleCatching Up With 3 Rare Disease Families
Four-year-old Eliza O’Neill’s viral videos, the subject of my last two blog posts, continue to dominate the news media with another appearance on The Today Show June 17. Hopefully, her family’s fight...
View ArticleNo Ice Buckets or Pink Ribbons for Very Rare Genetic Diseases
As enthusiasm for dumping ice on one another fades with autumn and October brings pervasive pink, I wish that attention would turn to families confronting diseases not as well known as ALS and breast...
View ArticleNew Miracle Drugs: What Would You Pay?
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 weight. I’ve always used humor as a defense mechanism....
View ArticleGene Therapy for Blindness Works!
The news this week presented at a major vision conference and published in The New England Journal of Medicine about gene therapy to treat childhood blindness paints an unnecessarily grim picture....
View ArticleClik here to view.
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...
View Article
