The Forever Fix: Gene Therapy and the Boy Who Saved It (324.0KB)
flyer / handout
July 16, 2015
July 9, 2015
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. (more…)
July 1, 2015
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. (more…)
June 17, 2015
Bake sales and bike races, balls and raffles, exhausting and all-consuming. But these efforts pale when a performer or other famous rich person suddenly and explosively steps up to support such a disease, solely because someone they know has just been diagnosed. As if dozens of families haven’t already been trying to fund clinical trials for years. Last summer’s "ice bucket challenge" was the epitome of the power of viral social media, with the message about ALS lost in the excitement.
When celebrities suddenly care about rare diseases, I wonder what my friends in the rare disease community think. They’re happy, of course, at the attention, yet perhaps a bit unglued by the power of the famous – but maybe afraid to say so.
That happened recently for Batten disease, a devastating group of brain disorders that strike in childhood. One family isn’t afraid to speak out.
Two years ago my blog DNA Science gave a voice to Laura King Edwards, who has been running races in all 50 states in honor of her 16-year-old sister Taylor, who has Batten disease. Laura updated a year ago.
This year, she and her mother Sharon King share their thoughts about last week’s avalanche of concern for the disease that is taking Taylor away. (more…)
May 27, 2015
As a boy, Joe believed the neighborhood talk that his institutionalized mother was an alcoholic. He remembers his skeletal, writhing, grimacing and grunting mother as a monster, not as someone suffering from a neurological disease only trying to say “I love you” to her terrified son. (more…)
May 4, 2015
“The Forever Fix: Gene Therapy and the Boy Who Saved It” and am Facebook friends with many affected families, I want to add context to the news coverage. (more…)I fear that news out today about gene therapy to treat a form of childhood blindness will be unnecessarily negative. Because I wrote a book about this treatment,
March 26, 2015
Discovery of a new gene behind autism cleverly combines genetic techniques new and classic.
Autism has been difficult to characterize genetically. It is probably a common endpoint for many genotypes, and is a multifactorial (“complex”) trait. That is, hundreds of genes contribute risk to different degrees, as do environmental factors. Research reports implicate either dozens of genes in genomewide sweeps, or focus on a few genes that encode proteins that act at synapses, such as the < href="https://www.autismspeaks.org/science/grants/neuroligins-and-neurexins-autism-candidate-genes-study-their-association-synaptic-con">neuroligins and neurexins. (more…)
March 15, 2015
Stem Cells.Researchers from Johns Hopkins University have teamed two powerful technologies to correct sickle cell disease in a lab dish. Linzhao Cheng and colleagues have deployed CRISPR/Cas-9 on iPS cells to replace the mutant beta globin gene, published in
ACRONYMS AND ABBREVIATIONS
CRISPR conjures up images of fried chicken, but it stands for “clustered regularly interspaced short palindromic repeats” – short repeated DNA sequences interspersed with areas called spacers, like stutters. The pattern of repeats and spaces attracts an enzyme, Cas9, which is like a molecular scissors that cuts wherever short RNA molecules called “guide RNAs” take it. Here’s a fuller description. (more…)
March 6, 2015
December 7, 2014
• More than 7 numbers or letters
• Obvious to me, but not to anyone else
The genetic code popped into my mind, and has remained an endless source of diverse passwords, valuable because they may seem nonsensical to non-biologists. (more…)