Understudy Gene Offers Hope for Spinal Muscular Atrophy

I began writing about genetics decades ago, and the best thing about getting older is witnessing the development of targeted treatments for single-gene diseases that I never thought would happen. But it is happening, for cystic fibrosis, Duchenne muscular dystrophy, … Continue reading »

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Aicardi Syndrome: Genome Sequencing Illuminates Another Rare Disease

As my inbox fills with ever more updates on the number of human genomes sequenced and the plummeting time and cost of next next next generation sequencing, I find myself hitting delete more and more often. Instead, I’m drawn to … Continue reading »

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Fighting Canavan: Honoring Rare Disease Week

During Rare Disease Week, I turn over DNA Science to a family battling a rare inherited disease. I’ve been following Max Randell, who has Canavan disease, in my human genetics textbook since he was a preschooler – he’s now 17, thanks … Continue reading »

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Catching 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 to fund gene therapy for her …

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