Ricki Lewis

Here’s an update on some of the rare disease families I’ve blogged about as they travel the long and winding road from diagnosis to gene therapy.

The Challenge

The rarity of many single-gene diseases complicates design of clinical trials for any type of treatment. How can researchers recruit a control group, when only a handful of patients have the disease? Many of these conditions affect very young children. Read More 

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 to protect her from viral infection – which could have disqualified her from receiving gene therapy for Sanfilippo syndrome type A (aka mucopolysaccharidosis Type IIIA or MPS IIIA). Last week, she became patient #1 in Abeona Therapeutics' phase 1/2 clinical trial. Read More 

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, she knew instantly that five-year-old Will had something far worse.  Read More