Here’s an update on some of the rare disease families DNA Science has covered as they travel the long and winding road from diagnosis to gene therapy. The Challenge The rarity of many single-gene diseases
Keeping a little girl at home for 722 days may seem cruel, but for the O’Neill family, it was a demonstration of astonishing bravery and love. Glenn and Cara O’Neill had isolated their daughter Eliza
Despite eclectic ways of delivering insulin to control blood glucose level in people with type 1 diabetes (T1D), no approach precisely replicates what happens in the body. Gene therapy may hold the answer. T1D is
CRISPR-Cas9 gene editing has been around not even 4 years, and people are avidly discussing its promises and perils (see “The Public and the Gene Editing Revolution” in today’s New England Journal of Medicine). That’s great. But
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 turned to
Eleven-year-old Hannah Sames can still curl her toes, just barely. But time is running out. If Hannah can move her toes for a few more weeks, until she becomes the fourth child in a clinical
‘Tis the season for Science magazine to name their Breakthrough of the Year, a designation that typically irks me because it implies that science happens suddenly and we all know that of course it doesn’t.
Summer is half over, so I thought I’d update a few posts. EMAN IN LIBERIA A year ago, I frantically wrote about my young friend in Liberia, Emmanuel Gokpolu, and his pleas to help stop Ebola.
Valerie Byers had long suspected that her son Will’s diagnosis of autism was wrong. So when she saw a clip on the homepage of the Today Show about a little girl named Eliza, in late February,
It’s an unacknowledged law of nature that whatever the texture of a girl’s hair, she wants the opposite. For years I wrapped my tangles around soup cans and around my head, squished it under irons,