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Ricki Lewis

Genetic Linkage

Hannah’s 2016: From Curling Toes to Gene Therapy

January 12, 2016
Tags: gene therapy, GAN, giant axonal neuropathy, Ricki Lewis, Lori Sames, rare disease
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  Read More 
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“Saving Eliza” Campaign Helps Another Child

July 16, 2015
Tags: Sanfilippo syndrome, enzyme replacement therapy, gene therapy, Saving Eliza, MPS
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.  Read More 
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Hannah's Hair: Why Traits Matter

July 9, 2015
Tags: GAN, giant axonal neuropathy, gene therapy
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. Read More 
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Gene Therapy for Blindness Works!

May 4, 2015
Tags: gene therapy, RPE65-associate Leber's congenital amaurosis
(NHGRI)
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. Read More 
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SCID-X1 Gene Therapy, Take 2

October 12, 2014
Tags: gene therapy, bubble boy, SCID-X1, ADA deficiency, forever fix
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. Read More 
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Medical Success Stories: From Cystic Fibrosis to Diabetes

September 4, 2014
Tags: cystic fibrosis, type 2 diabetes, gastric bypass, Leber congenital amaurosis, gene therapy, A1c, natural history study, adenosine deaminase deficiency, SCID-X1
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! Read More 
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Imprisoned Gene Therapy Pioneer, French Anderson, Launches Website

January 28, 2014
Tags: gene therapy, William French Anderson, NIH, Friends of French Anderson
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.  Read More 
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Spring 2014 Talks on "The Forever Fix" and Gene Therapy

August 23, 2013
Tags: gene therapy
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 (rickilewis54@gmail.com)


St. Jude’s Children’s Research Hospital
Memphis, June 2014

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A Little Girl with Giant Axons, a Deranged Cytoskeleton, and Someday Gene Therapy

May 16, 2013
Tags: GAN, gene therapy, Alzheimer's disease, Parkinson's Disease, The Forever Fix
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. Read More 
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Rare Diseases: Unicorns, Not Zebras

February 27, 2013
Tags: rare disease, giant axonal neuropathy, mutation, gene therapy
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. Read More 
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