Glenn Nichols, surrounded by his hospice team. The author is in yellow.
April 20, 2017
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Thirteen-year-old Hannah Sames looked beautiful a few weeks ago at the annual Hannah’s Hope Fund gala
near her hometown and mine. She’d put on 15 pounds since her gene therapy for giant axonal neuropathy (GAN)
9 months ago. Hannah wheeled around the teen-packed ballroom, her kinky tendrils draping her smile, chatting with guests.
I looked at her in wonder. Were the extra pounds a response to gene therapy, or just a normal adolescent growth spurt? Were her new abilities to pull herself up from a sitting position and to pick up a crouton with her fingers a consequence of subconsciously trying harder? Or were they, too, due to the 120 trillion gene-bearing viruses sent into the fluid bathing her spinal cord?
It’s too soon to tell. (more…)
February 28, 2017
Talia Duff with Cynthia the Hippo
This year for Rare Disease Day
– February 28th – DNA Science honors 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…)
December 21, 2016
I dislike end-of-year "best of" lists, especially the "breakthroughs" that imply scientific discoveries and medical advances emerge from out of nowhere. Often they're the product of PR machines that select and then catapult certain research findings into the news releases that dictate the headlines.
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
Eliza had gene therapy this past spring, and is showing small signs of improvement.
As the revamped 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…)
August 18, 2016
Eliza O'Neill received gene therapy -- a drip into her hand -- in May.
Here’s an update on some of the rare disease families I’ve blogged about as they travel the long and winding road from diagnosis to gene therapy.
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
Hannah Sames and the researcher who created her gene therapy, Dr. Steven Gray.
Last week, 8 years and $8 million fund-raised dollars after the Sames family of Rexford, NY, began their battle against giant axonal neuropathy (GAN), their daughter Hannah finally received gene therapy.
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
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Keeping a little girl at home for 722 days may seem cruel, but for the O’Neill family, it was a demonstration of astonishing bravery and love.
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
. 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
Hannah Sames will have gene therapy in March, after an 8-year effort from her family. Go Hannah!
Eleven-year-old Hannah Sames can still curl her toes, just barely. But time is running out.
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
5-year-old Will Byers got a spot in a clinical trial for his Sanfilippo syndrome thanks to the efforts of another family.
Valerie Byers had long suspected that her son Will’s diagnosis of autism was wrong. So when she saw a clip on the homepage of the Today Show
about a little girl named Eliza, in late February, she knew instantly that five-year-old Will had something far worse. (more…)
July 9, 2015
Hannah Sames, age 7 (Dr. Wendy Josephs)
It’s a rarely acknowledged law of nature that whatever the texture of a little girl’s hair, she wants the opposite.
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
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, “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…)
October 12, 2014
David Vetter had SCID-X1 and became known as the bubble boy. (NASA)
Beneath all the bad news about viruses this week lies a good virus: the one that underlies gene therapy for X-linked severe combined immunodeficiency (SCID-X1),
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
The many guises of CF.
A skinny little boy, with mocha skin and curly black hair, lived in the apartment building next door when I was growing up in Brooklyn in the 1960s. He didn’t live long enough to go to kindergarten. He had cystic fibrosis.
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
William French Anderson, MD
In September 1990, William French Anderson, MD, posed with 4-year-old Ashi DeSilva at the NIH clinical center. Days earlier, she’d become the first recipient of gene therapy, a biotechnology that Dr. Anderson and others had been thinking about since Watson and Crick published the structure of DNA in 1953.
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
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 Forever Fix: Gene Therapy and the Boy Who Saved It
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 (email@example.com)
St. Jude’s Children’s Research Hospital
Memphis, June 2014
May 16, 2013
Hannah, 7 years old (Dr. Wendy Josephs)
“When you hear hoof beats, think horses, not zebras.” So goes the mantra of first-year medical students. If a common disease is a horse and a rare disease a zebra, then giant axonal neuropathy (GAN), with only 50 or so recognized cases worldwide, is surely a unicorn.
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
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…)
February 4, 2013
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. (more…)
December 19, 2012
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. (more…)
December 19, 2012
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. (more…)
September 27, 2012
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!
July 31, 2012
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 (more…)
June 4, 2012
14-year-old Max Randell, who has Canavan disease, is graduating middle school!
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
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. (more…)
May 5, 2012
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.
April 22, 2012
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. (more…)
March 16, 2012
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. (more…)
February 8, 2012
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. (more…)
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…)
Project to engage students in helping families with rare genetic diseases
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 11th edition, 12th to be published in September 2018.
An ideal starting point for anyone who wants to know more about genes, DNA, genomes, and the genetic ties that bind us all.
NPR WOSU Public Media
The Science of Gender Identity (All Sides with Ann Fisher)
DNA Science blog posts at Public Library of Science
My weekly blog posts at DNA Science cover breaking genomics news, often as personal stories, historical perspective, or looking ahead.
NORD Breakthrough Summit
Personalizing Medicine - Hannah's Story
Genetics and Reproduction: How Far Should We Go?
Interview with Filament Communications
Ricki Lewis on the Difference Between Writing About Science and Science Writing
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
Voiceamerica radio show
Kathryn Vox radio show, including "The Forever Fix"
Publishers Weekly starred review
first advance review for The Forever Fix
Advocates for published authors since 1912