The Forever Fix: Gene Therapy and the Boy Who Saved It (324.0KB)
flyer / handout
February 28, 2017
Cure CMT4J: Advancing Gene Therapy for Rare Diseases, run by Jocelyn and John Duff. Their daughter Talia’s “diagnostic odyssey” was unusually long because Down syndrome obscured a second condition, an extremely rare form of Charcot-Marie-Tooth (CMT) disease. (more…)This year for Rare Disease Day – February 28th – DNA Science honors
December 21, 2016
WHAT MAKES SCIENCE NEWS?
Much of science news is released to journalists ahead of time (embargoed) so that we can investigate background and conduct interviews. This year, the Food and Drug Administration began offering news even earlier to select media outlets. (more…)
December 2, 2016
21st Century Cures Act winds its way through the lame duck Congress, I’m reminded of a spellbinding dinner on Sunday night, October 16. It was the eve of the annual "breakthrough summit" for the National Organization for Rare Disorders, and I’d introduced a group of new friends to share their stories of life with a child who has had, or will have, gene therapy. (more…)As the revamped
August 18, 2016
The rarity of many single-gene diseases complicates design of clinical trials for any type of treatment. How can researchers recruit a control group, when only a handful of patients have the disease? Many of these conditions affect very young children. (more…)
July 25, 2016
JUST IN TIME
About 120 trillion viruses were injected into the fluid surrounding 12-year-old Hannah’s spinal cord, at the NIH Clinical Center. Each virus carries a working copy of the gene that encodes a protein called gigaxonin. When she awoke, the first thing Hannah said was "I'm hungry!" and soon after posted on Facebook, "I have an amazing family!" Indeed she does.
Although Hannah is the fifth child in the clinical trial, she’s the first whose body doesn’t make the protein at all, thanks to two deletion mutations. She required a separate protocol to suppress her immune system so that it would accept the treatment, which uses the harmless adeno-associated virus to deliver the genes. At one point, it seemed that the clinical trial wouldn't include her, despite the funding from Hannah's Hope Fund. (more…)
May 25, 2016
Glenn and Cara O’Neill had isolated their daughter Eliza to protect her from viral infection – which could have disqualified her from receiving gene therapy for Sanfilippo syndrome type A (aka mucopolysaccharidosis Type IIIA or MPS IIIA). Last week, she became patient #1 in Abeona Therapeutics' phase 1/2 clinical trial. (more…)
April 20, 2016
CRISPR-Cas9 gene editing has been around not even 4 years, and people are avidly discussing its promises and perils. That’s great. But consider the historical backdrop.
April 1, the European Medicine Agency’s (EMA) Committee for Medicinal Products recommended for marketing approval a second gene therapy. “Strimvelis” treats adenosine deaminase severe combined immunodeficiency syndrome (ADA-SCID) and was developed at the San Raffaele Telethon Institute for Gene Therapy in Milan and GlaxoSmithKline. Regulatory approval is expected within a few months.
I wonder how many people realize, especially those fearful of how gene editing might be misused, that the gene therapy that is nearing approval actually entered clinical trials 26 years ago? (more…)
January 12, 2016
If Hannah can move her toes for a few more weeks, until she becomes the fourth child in a clinical trial for gene transfer to treat giant axonal neuropathy (GAN), the disease might halt – she may even regain function, as mice did.
It’s been an 8-year wait. So Facebook friends call 2016 “Hannah’s year.”
The first sign that something was amiss (more…)
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…)
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,
October 12, 2014
Altered viruses are the vehicles that transfer healthy human genes into the cells of people in whom the genes aren’t working, providing a slew of new “forever fixes.” Nearly 100 gene transfer protocols are now in late-stage clinical trials. (more…)
September 4, 2014
Today’s tots with CF face a far brighter future. A recent report in the Annals of Internal Medicine applied trends in survival from 2000 to 2010 to project life expectancy for children diagnosed in 2010: 37 years for girls and 40 years for boys. (The difference may reflect hormones or the extra creatinine in the more muscular male of the species.) Factoring in the current rate of treatment improvements gives a soaring median survival of 54 years for women and 58 years for men when those kids grow up! (more…)
January 28, 2014
On July 29, 2004, Dr. Anderson, then 67, was arrested at his home in San Marino, California, and charged with molesting the daughter of a co-worker. The “inappropriate touching and medical exams” allegedly happened from 1997 to 2001, starting when the girl was ten. He has always maintained his innocence.
Dr. Anderson was tried in June 2006, convicted the next month, and sentenced to 14 years in prison on February 3, 2007. More than 200 scientists, many quite prominent, formed "Friends of French Anderson" and sent detailed letters to the court vouching for his character. But despite appeals, he has been in prison all this time.
Out of options, Dr. Anderson has just unveiled a website, www.wfrenchanderson.org that includes forensic evidence in his defense and other documents. He’s asked me to spread the word. I won’t discuss the evidence or legal details, at least not yet, but I wanted to relate how I came to learn about the case. (more…)
August 23, 2013
The Forever Fix: Gene Therapy and the Boy Who Saved It."After a whirlwind of speaking at teachers' conferences this fall, in the springtime my audience will be high school students. I will be giving 4 keynote addresses for the New York State Student Convocation, for the March of Dimes. The talk is "Gene Therapy: A Forever Fix," which will coincide with a feature article I've written for Scientific American (print), March issue. The talk is based on my book,
The paperback version has an Instructor's Guide at the end, which is also posted on this website, beneath a handout for a classroom activity I've developed called "Putting a Face on Genetics."
Also check out my series on a clinic for genetic diseases among the Amish and Mennonites at my DNA Science blog at Public Library of Science (http://blogs.plos.org/dnascience/)
The March of Dimes talks will be held at:
Hyde Park March 18
NYU March 26
Syracuse April 2
Staten Island April 24
I will post more details as I get them, or feel free to email me (firstname.lastname@example.org)
St. Jude’s Children’s Research Hospital
Memphis, June 2014
May 16, 2013
Five years ago this week, 9-year-old Hannah Sames of Rexford, New York, who lives near me, received a diagnosis of GAN, a disease much like amyotrophic lateral sclerosis. And this month, thanks in part to the herculean fundraising efforts of Hannah's Hope Fund (HHF), the cover and lead article of the Journal of Clinical Investigation reveal most of the story behind the devastating inherited disease, with repercussions that will reach far beyond the tiny GAN community. (more…)
February 27, 2013
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…)
February 4, 2013
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. (more…)
December 19, 2012
Public Library of Science. It is from The Forever Fix: Gene Therapy and the Boy Who Saved It, (St. Martin's Press, 2012).The excerpt below supplements the blog entry that is beneath it and also at
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. (more…)
December 19, 2012
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’m thrilled about the encouraging gene therapy results just published in
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. (more…)
September 27, 2012
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 have a new blog at Public Library of Science (PLoS),
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!
July 31, 2012
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 (more…)
June 4, 2012
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). (more…)
May 24, 2012
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. (more…)
May 5, 2012
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.
April 22, 2012
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.Yesterday I had two very special guests at my
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. (more…)
March 16, 2012
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.Reports are trickling in as people read my new 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. (more…)
February 8, 2012
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. (more…)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
January 18, 2012
In late 2011, creation of a lab strain of of H5N1 influenza capable of spreading easily among ferrets, and presumably us, sparked heated debate about whether and when to publish scientific research that could do harm. The same could be said for gene doping.
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…)
November 29, 2011
We humans might not be able to regrow a leg, as can a cockroach or salamander, or regenerate a missing half, like a flatworm, but our organs can replenish themselves – thanks to stem cells. Two new reports about opposite ends of the respiratory system may pave the way for replacement breathing parts.
A 36-year-old (more…)
November 4, 2011
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 (more…)
October 1, 2011
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. (more…)
August 3, 2010
Normally a 9-year-old boy cavorting with a big, shaggy dog isn’t anything unusual, but when Corey Haas grabbed the leash of 1-year-old Mercury last Saturday, it was a stunning sight. For both Corey and Mercury, a briard sheepdog, were born with the exact same form of hereditary blindness, Leber congenital amaurosis (LCA). And (more…)
May 21, 2010
I’ve been at the American Society of Gene and Cell Therapy annual meeting this week, garnering tales for my book, tentatively entitled “The Forever Fix.” It is largely the story of 9-year-old Corey Haas, who was on his way to certain blindness when gene therapy performed at the Children's Hospital of Philadelphia in September 2008 (more…)