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.
Glenn Nichols, surrounded by his hospice team. The author is in yellow.
March 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 a list of famous genes, RB1 would probably be #1. It’s the tumor suppressor gene whose “loss of function” is behind the childhood eye cancer retinoblastoma, and that Alfred Knudson
investigated to deduce the 2-hit mechanism of cancer.
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…)
February 27, 2013
The past and future of gene therapy: Corey Haas and Hannah Sames autograph books at the Schenectady Library.
“When you hear hoofbeats, think horses, not zebras.”
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…)
August 20, 2012
Gregor Mendel: should he stay or should he go (in textbooks)? (National Library of Medicine)
Summer reading for most people means magazines, novels, and similar escapist fare, but for me, it’s the American Journal of Human Genetics (AJHG). Perusing the table of contents of the current issue tells me what’s dominating this post-genomic era: information beyond the obvious, like a subtext hidden within the sequences of A, (more…)
July 29, 2012
Gavin's mutation (in the NMNAT1 gene), discovered 8 months ago, was announced July 29, in Nature Genetics.
I'm rerunning this blog post from November, because Gavin's mutation was announced today -- the first step towards a gene therapy! Tomorrow I'll run my blog on the discovery that is now on Scientific American blogs.
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…)
February 25, 2012
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. (more…)
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…)
Book Club Reader's Guide
Many challenging questions to stimulate thought and discussion.
38 discussion questions to get students thinking and talking about gene therapy, including the science, ethical issues, and the drug approval process.
The Forever Fix is the uplifting true story of 8-year-old Corey Haas, who was cured of hereditary blindness just 4 days after gene therapy.
A spectacularly-illustrated, clearly written human anatomy and physiology textbook, used in pre-health profession programs throughout the U.S.
A highly engaging, clearly written, beautifully illustrated introduction to the science of human genetics for the non-scientist. Now in its 10th edition.
DNA reflects who we are -- but it isn’t the whole story.
A one-hour interview, mostly about why gene therapy has been beneath the radar.
Answers for the Family (http://answers4thefamilyblog.com) on www.LATalkRadio.com
The Art of Relating BlogTalkRadio.com with Christine Kniffen
7/9/12 hourlong discussion about rare diseases + The Forever Fix
MesotheliomaHelp.net recommends The Forever Fix
Voiceamerica radio show
Kathryn Vox radio show, including "The Forever Fix"
How "The Forever Fix: Gene Therapy and the Boy Who Saved It" Wrote Itself
WOCA The Source podcast, May 21, 2012
WOCA The Source radio show podcast about The Forever Fix, May 21, 2012
The Ann Parillo Schenectady Today Show, April 17, 2012
TV segment on "The Forever Fix: Gene Therapy and the Boy Who Saved It"
Are DNA Patents Doomed? Scientific American blog 4/3/12
A brief history of patenting genes, current controversial cases, and a look ahead
"The Roundtable" WAMC Albany, NPR station, March 15, 2012
Joe Donahue interviews Ricki Lewis about "The Forever Fix: Gene Therapy and the Boy Who Saved It"
New Hope for Gene Therapy: A Young Boy's Fight Against Blindness
A short video about Corey Haas's gene therapy -- the subject of my book, "The Forever Fix: The Boy Who Saved Gene Therapy"
Publishers Weekly starred review
first advance review for The Forever Fix
Corey Plays Little League
A wonderful video of the family at the center of The Forever Fix: Gene Therapy and the Boy Who Saved It
Article on leptin and Jeffrey Friedman in RPI alumni magazine
The Forever Fix: Gene Therapy and the Boy Who Saved It
Alden March Bioethics Institute blog
Alden March Bioethics Institute blog
Advocates for published authors since 1912
Authors Guild Directory
A compendium of member websites