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Genetic Linkage

Another Bump in the Road for Gene Therapy?

Mercury can see, thanks to gene therapy. (Foundation for Retinal Research)
I am astonished, once again, by the complexity and unpredictability of science.

Last week, a paper in the Proceedings of the National Academy of Sciences (PNAS) reported that gene therapy to treat a form of blindness called Leber congenital amaurosis type 2 (LCA2) doesn’t stop degeneration of the rods and cones – the photoreceptor cells that provide vision. Gene therapy sends the genetic instructions for a protein called RPE65 into a layer of cells that supports the rods and cones – the retinal pigment epithelium, or RPE. The protein is essential for the eye to use vitamin A. And the gene therapy works, so far.  Read More 
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Gene Therapy for Canavan Disease: Max’s Story

Max celebrated his 15th birthday on October 13, 2012. His best friend is his brother Alex, a future neuroscientist.
I’m thrilled about the encouraging gene therapy results just published in Science Translational Medicine from Paola Leone, PhD and R. Jude Samulski, PhD, and colleagues. “Long-term follow-up after gene therapy for Canavan Disease” updates a project that has its origins in the mid 1990s. Canavan disease is a brain disorder present from birth.

I’ve been following some of the kids who’ve had the gene therapy. One patient in particular – Max Randell – has been in my human genetics textbook since age three, his progress updated with each edition.  Read More 
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Excerpt about Canavan disease from "The Forever Fix: Gene Therapy and the Boy Who Saved It"

Max Randell smiles at his middle school graduation.
The excerpt below supplements the blog entry that is beneath it and also at Public Library of Science. It is from The Forever Fix: Gene Therapy and the Boy Who Saved It, (St. Martin's Press, 2012).


I sat at a table with Paola, Mike, Max and Max’s charming little brother Alex, who was eight going on twenty-eight. While the adults ate chicken alfredo (except for vegetarian Paola) and the kids downed chicken fingers and fries, Mike leaned over Max, pulled up his shirt, and deftly attached a bag of cream-colored stuff to the feeding tube coming from his son’s stomach, holding it aloft for the food to go in. At the front of the ballroom, Ilyce, svelte in a shimmering blue gown, was getting ready for her annual thank-you. Read More 
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DNA Science -- My New Blog at Public Library of Science (PLoS)

http://blogs.plos.org/dnascience/
I have a new blog at Public Library of Science (PLoS), DNA Science. Each Thursday I'll explore stories from real people experiencing opportunities and challenges posed by biotechnology, including genetic testing, gene therapy, exome sequencing, stem cells, and more.

I like to find the stories that no one else tackles, connect topics in unusual ways, dip into bioethics, and wherever possible, bring in the historical perspective that shows that "overnight breakthroughs" are almost always anything but. And the PLoS tag is opening doors -- I spoke with Dr. Francis Collins yesterday!

The first blog is "Human Embryonic Stem Cells Finally Reach Clinical Trials: Maurie's Story."

Join me on this new adventure! Read More 
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Rare Diseases: 5 Recent Reasons to Cheer

3-year-old Gavin Stevens is at the center of one of four papers just published in Nature Genetics about the discovery of a childhood blindness gene.
(This blog first appeared at Scientific American blogs on July 29. I have written about the 4 childhood blindness papers for Medscape Today, to be published August 2 or 3.)

On Sunday morning, July 21, I faced a room of people from families with Leber congenital amaurosis (LCA), an inherited blindness caused by mutations in any of at least 18  Read More 
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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 “Valley of Death” Looms for 8 Kids With a Rare Disease

Hannah Sames, here with her dog Ginger, awaits gene therapy. (photo: Dr. Wendy Josephs)
The pharmaceutical industry rightly calls the stage in drug development between basic research and clinical trials the “Valley of Death.” This is when a potential treatment that’s worked in mice, monkeys, and the like catapults to a phase 1 clinical trial to assess safety. It’s rare.

Francis Collins, MD, PhD, director of the National Institutes of Health, calls this period “where projects go to die.” The reason: $.

Matthew Herper writes in Forbes that the cost of developing a new drug is $4-11 billion, not the $1 billion that Pharma often claims. Yet even that $1 billion is unimaginable, especially when you put a face on a rare disease and witness what the family goes through to leap to phase 1.

For me, that face belongs to 8-year-old Hannah Sames, of Rexford, New York. Read More 
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The Irony of HIV Gene Therapy

HIV on a human lymphocyte.
Buried somewhere beneath the long-awaited announcement of the birth of Jessica Simpson’s baby on May 2 was encouraging news about HIV infection: gene therapy appears to be safe.

Anti-retroviral drugs (ARTs) have been remarkably successful, but they require daily doses and have adverse effects. Gene transfer is an alternative approach that gives selected cells the genes to manufacture proteins necessary to counter a particular disease. Gene transfer (which technically becomes gene therapy once it works) to treat an enzyme deficiency, for example, provides genetic instructions for the missing enzyme. To treat an infection or cancer, gene therapy bolsters immune system cells.
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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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