This year for Rare Disease Day – February 28th – DNA Science honors Cure CMT4J: Advancing Gene Therapy for Rare Diseases, run by Jocelyn and John Duff. Their daughter Talia’s “diagnostic odyssey” was unusually long
Mendel’s laws, like any laws in science, are wonderful because they make predictions possible. A woman and man both carry a recessive mutation in the same gene, and each of their children has a 25%
I dislike end-of-year “best of” lists, especially the “breakthroughs” that imply scientific discoveries and medical advances emerge from out of nowhere. Often they’re the product of PR machines that select and then catapult certain research
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
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
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.
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,
September will be 25 years since the first gene therapy experiment, and FDA approval is finally in sight. Several gene therapies are approaching the finish line, awaiting results from comparisons to existing therapies and analyses
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 cancer.
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 to fund gene