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Genetic Linkage

“Saving Eliza” Campaign Helps Another Child

5-year-old Will Byers got a spot in a clinical trial for his Sanfilippo syndrome thanks to the efforts of another family.
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 
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Hannah's Hair: Why Traits Matter

Hannah Sames, age 7 (Dr. Wendy Josephs)
It’s a rarely acknowledged law of nature that whatever the texture of a little girl’s hair, she wants the opposite.

For years I wrapped my tangles around soup cans and around my head, squished it under irons, and subjected it to stinky straighteners. I’d often succeed, only to venture outside and have the hated curls spring up and out anew.

Eleven-year-old Hannah Sames also relaxes her curls. In fact, the pale kinks were the first thing Hannah’s parents, Lori and Matt, noticed when she was born. “Their other daughters, Madison, five, and Reagan, two, had stick-straight hair, as do Lori and Matt. When the birthing goop had dried, Hannah’s curls were odder still, weirdly dull, like the ‘before’ photograph in an ad for a hair conditioner,” I wrote in my gene therapy book. A more recent story about a little girl with curly hair but straight-haired siblings and parents in the Times of India is remarkably similar. Read More 
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Aicardi Syndrome: Genome Sequencing Illuminates Another Rare Disease

(NHGRI)
As the number of sequenced human genomes climbs and the time to sequence a genome plummets, I find myself drawn more to the small stories, the incremental revelations that may affect only a few individuals.

A few weeks ago, a study published in Investigative Ophthalmology and Visual Science caught my attention. Researchers at the Translational Genomics Research Institute (TGen) in Phoenix used exome and genome sequencing to probe the origins of a condition I'd never heard of -- and the findings were surprising. Read More 
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