The Forever Fix gang: Corey Haas with book, surrounded by mom Nancy and dad Ethan Haas, Ricki Lewis on left next to Lori and Hannah Sames. At book signing 3/24/12, Barnes + Noble, Albany NY.
The Forever Fix: Gene Therapy and the Boy Who Saved It (324.0KB)
flyer / handout 
Glenn Nichols, surrounded by his hospice team. The author is in yellow.
Archives
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Genetic LinkageSecond Gene Causes RetinoblastomaMarch 21, 2013 
This little boy has heritable retinoblastoma. The mutation originated in him, so he didn't inherit it, but he can pass it on.
In 1971, the idea that the normal function of a gene could be to prevent cancer was revolutionary. Now a study in Lancet Oncology finds that an amplified oncogene can cause the eye cancer too, with just one “hit.” (more…) Rare Diseases: Unicorns, Not ZebrasFebruary 27, 2013 
The past and future of gene therapy: Corey Haas and Hannah Sames autograph books at the Schenectady Library.
Every doctor-to-be hears this mantra. Rare Disease Day, February 28, celebrates the 7,000 or so diseases that are zebras, each affecting fewer than 200,000 people. Giant axonal neuropathy (GAN) isn’t a zebra, but a unicorn. Eight-year-old Hannah Sames inherited one mutation from each of her parents in a gene that encodes a protein called gigaxonin. As a result, the axons of her motor neurons are slowly filling up with haphazardly-arrayed intermediate filaments. The cells bulge, blocking the messages to her muscles. She’s one of only 50 in the world known to have GAN. But if all goes according to schedule, Hannah and several other youngsters are going to have gene therapy to correct the disease. Read about it at Hannah’s Hope Fund. Two years ago, at the annual meeting of the American Society of Gene and Cell Therapy in Washington, I had the honor of watching Hannah’s marvelous mom Lori as she watched a child helped by gene therapy – Corey Haas, whose story bookends a brief history of the technology in "The Forever Fix: Gene Therapy and the Boy Who Saved It". Here’s an excerpt, for Rare Disease Day. (more…) Hidden Meanings in Our Genomes – And What To Do With MendelAugust 20, 2012 
Gregor Mendel: should he stay or should he go (in textbooks)? (National Library of Medicine)
Gavin's Story Revisited -- Childhood Blindness Mutation DiscoveredJuly 29, 2012 
Gavin's mutation (in the NMNAT1 gene), discovered 8 months ago, was announced July 29, in Nature Genetics.
In a hotel ballroom on the campus of the University of Pennsylvania on a midsummer Saturday in 2010, an unusual roll call was under way at the Family Conference for the Foundation for Retinal Research. Betsy Brint, co-head of organization, was calling out what sounded like code words – CEP290, (more…) AnticipationFebruary 25, 2012 
Jordan and Hailey Kohl. Spinocerebellar ataxia type 2 affects several members of their family, including Jordan.
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. (more…) Gene Therapy Subverted in New Dystopian Novel, “When She Woke”December 30, 2011
I don’t usually take too kindly to the evil geneticist stereotype in fiction, but I can’t resist a good dystopian novel. "When She Woke," by Hillary Jordan, is the perfect book (more…)
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