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Genetic Linkage

Max Graduates!

14-year-old Max Randell, who has Canavan disease, is graduating middle school!
Max Graduates!

Tomorrow night, Max Randell will graduate from middle school. He even passed a test on the U.S. Constitution. I don’t think I could do that.

Max has Canavan disease. And thanks to gene therapy, he’s here to celebrate.

Canavan disease is an inherited disease that strips the insulation from nerve cells in the brain. It destroys neural function, beginning at birth and likely before, and the child loses the battle by age 8 -- unless she or he has gene therapy, still experimental (as are all gene therapies).  Read More 
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The Past and the Future of Gene Therapy

Corey Haas and Hannah Sames sign their photographs in "The Forever Fix: Gene Therapy and the Boy Who Saved It."
Yesterday I had two very special guests at my book talk and signing at the Schenectady library: Eleven-year-old Corey Haas, who is “the boy who saved gene therapy” in the metaphorical phrase in the book title, and eight-year-old Hannah Sames, who will have gene therapy.

Corey and Hannah represent gene therapy’s immediate past and future. They put faces on a once-moribund biotechnology reborn after a series of tragic errors and failures. They are also remarkable children: bright, poised, aware, and charming. They are making history. Read More 
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The Forever Fix is Published! A Short Reader’s Guide

Great display at Albany Barnes + Noble
Reports are trickling in as people read my new book, The Forever Fix: Gene Therapy and the Boy Who Saved It (St. Martin's Press). It’s been amazing to hear the emotional ups and downs that accompany the experience, taking me back to how I felt writing the book.

For months, the words poured out, seemingly out of my control. I’d interview parents and researchers, usually late in the day, and be unable to sleep, immersed in their stories.  Read More 
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Animal Research Saves Lives: A Blast From My Fruit Fly Past

Gene therapy gave vision to Corey Haas. (photo: Dr. Wendy Josephs)
Chicago – I left fruit fly research circa 1982, shortly after earning my PhD in genetics, because I didn’t think insects with legs growing out of their heads was of much import to human health.

Although I went on to a rewarding career as a writer, I quickly learned that I was wrong about the  Read More 
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Anticipation

Jordan and Hailey Kohl. Spinocerebellar ataxia type 2 affects several members of their family, including Jordan.
“Anticipation .. is keepin’ me waitin’,” sings Carly Simon in her song made famous in a ketchup commercial. But “anticipation” in the genetic sense is just the opposite of Carly’s croon – it means a disease that begins earlier with each generation.

Doctors once blamed patients for anticipation, as if people with sick older relatives could worry themselves into suffering similarly. Then, in 1991, discovery of a new type of mutation explained the curious worsening of fragile X syndrome: an expanding triplet repeat.  Read More 
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Gene Therapy Changes the Brain

It doesn't take a brain scientist to see that the visual cortex of this formerly-blind woman lights up -- after gene therapy.
It isn’t often that a brain scan chokes me up, but this one did. The fMRI shows area 17 of the visual cortex coming to life in a woman born with Leber congenital amaurosis type 2 (LCA2). She’s part of the very same gene therapy clinical trial chronicled in my upcoming book The Forever Fix: Gene Therapy and the Boy Who Saved It. The symbolic boy is Corey Haas, who, four days after gene therapy in 2008 at age 8, screamed when he saw the sun at the Philadelphia zoo, his shadow world suddenly brightened. Read More 
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A Textbook Author’s View of “5-Minute Publishing”

It takes a village to produce a textbook.
iBooks Author “will let anyone make their own interactive textbook, in like 5 minutes flat,” according to several reports on Apple’s January 19 announcement. Then why did my first college textbook, Life, take 10 years?

It’s simple: researching, writing, editing, and publishing  Read More 
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Gene Therapy and the 10,000-Hour Rule

“Breakthroughs” in biomedicine are rarely that – they typically rest on a decade or more of experiments. Consider gene therapy.

I just unearthed an article from the December 1990 issue of Biology Digest, "Gene Therapy." I wrote it a mere two months after the very first gene therapy experiment, the much-publicized case of 4-year-old Ashi DeSilva,  Read More 
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Gene therapy on fetuses?

Gene therapy is experiencing a renaissance, with many of the recent successes in children. For some conditions, the younger the child, the better the genetic correction, because affected tissues degenerate with time. This is the case for adrenoleukodystrophy (ALD), the “Lorenzo’s Oil” disease that strips the insulation from brain neurons. One goal of  Read More 
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23andMe's Exome Sequencing and the Tenth Edition of My Textbook

It’s been a strange week. The tenth edition of my human genetics textbook was published, just as 23andMe announced that they now offer whole exome sequencing, for $999. Read More 
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