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Glenn Nichols, surrounded by his hospice team. The author is in yellow.

Genetic Linkage

Help Young, Blind Musician Meet Bruce Springsteen!

February 10, 2016

Tags: Bruce Springsteen, Leber congenital amaurosis, hereditary blindness, NORD

Please help Michael meet the Boss
Last March, my husband Larry and I attended the annual gala for the Curing Retinal Blindness Foundation, near Philadelphia. During the cocktail hour, someone was singing at the piano, “Born to Run.” I turned to Larry.

“Who would have the confidence to try to match Bruce Springsteen, and on that song? And sound just like him?”

Michael Smedley did. Blindness hasn’t stopped the then 15-year-old from being a musician, an actor, and an athlete. He’s a vocalist and keyboard player for the band Casual Friday.

But it isn’t easy. (more…)

No Ice Buckets or Pink Ribbons for Very Rare Genetic Diseases

October 10, 2014

Tags: rare diseases, ice bucket challenge, Leber congenital amaurosis, Batten disease, giant axonal neuropathy, juvenile Huntington disease, ALS, breast cancer

As enthusiasm for dumping ice on one another fades with autumn and October brings pervasive pink, I wish that attention would turn to families confronting diseases not as well known as ALS and breast cancer.

HOW RARE IS RARE?
According to the National Organization for Rare Disorders, “rare disease” in the U.S. means affecting fewer than 200,000 people. These conditions number about 6,800, collectively affecting nearly 30 million Americans or 1 in 10 people. Many are single-gene diseases. That means that the chance of more than one family member being affected is quite high (see Mendel's first law). Unlike those, most (>90%) cases of ALS and breast cancer aren’t inherited as single-gene traits, but are sporadic. Mutations happen during a person’s lifetime in somatic cells, perhaps due to an environmental trigger. A family with one member who has ALS wouldn't have as great a chance as it affecting another as a family with Huntington disease, for example.

With so many causes of rare diseases, comparing statistics is an apples-and-oranges exercise. But I collected a few anyway, for prevalence (the percentage of a population with a particular disease at a given time). (more…)

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! (more…)

Another Bump in the Road for Gene Therapy?

February 4, 2013

Tags: gene therapy, Leber congenital amaurosis, RPE, photoreceptor, blindness

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…)

Rare Diseases: 5 Recent Reasons to Cheer

July 31, 2012

Tags: rare disease, Leber congenital amaurosis, gene therapy, exome sequencing

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…)

The Past and the Future of Gene Therapy

April 22, 2012

Tags: The Forever Fix: Gene Therapy and the Boy Who Saved It, Corey Haas, Hannah Sames, giant axonal neuropathy, Leber congenital amaurosis, Ricki Lewis, gene therapy

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…)

Gene Therapy Changes the Brain

February 8, 2012

Tags: gene therapy, LCA2, Corey Haas, Jean Bennett, Ricki Lewis, CHOP, University of Pennsylvania, The Forever Fix: Gene Therapy and the Boy Who Saved It, Foundation Fighting Blindness, Leber congenital amaurosis, retinitis pigmentosa, second gene therapy, Science Translational Medicine, fMRI

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…)

Gene Therapy and the 10,000-Hour Rule

January 4, 2012

Tags: Gene therapy, The Forever Fix: Gene Therapy and the Boy Who Saved It, Malcolm Gladwell, 10, 000-hour rule, Ashi DeSilva, Biology Digest, William French Anderson, Donald Kohn, ADA deficiency, Leber congenital amaurosis, Kalydeco, ivacaftor, Vertex Pharmaceuticals, cystic fibrosis, severe combined immune deficiency, Ricki Lewis, Corey Haas, Jesse Gelsinger

“Breakthroughs” in biomedicine are rarely that – they typically rest on a decade or more of experiments. Consider gene therapy.

I just unearthed an article from the December 1990 issue of Biology Digest, "Gene Therapy." I wrote it a mere two months after the very first gene therapy experiment, the much-publicized case of 4-year-old Ashi DeSilva, (more…)

Gavin's Story: Whole Exome Sequencing Finds Mystery Mutation

November 19, 2011

Tags: whole exome sequencing, human genome, Gavin Stevens, Ming Qi, Leber congenital amaurosis, Foundation for Retinal Research, Knome, Complete Genomics, John Chiang, CEP 290, LRAT, CUBY20, Beijing Genomics Institute, DNA, rare disease

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…)

Gene therapy on fetuses?

November 4, 2011

Tags: gene therapy, fetal medicine, fetal surgery, Leber congenital amaurosis, bioethics, The Forever Fix: Gene Therapy and the Boy Who Saved It, Carson Strong, Ian Malcolm, Jurassic Park, FDA, phase 1 clinical trial, Ricki Lewis, therapeutic misconception, Lorenzo's Oil, Stop ALD, adrenoleukodystrophy

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…)

instruction
Project to engage students in helping families with rare genetic diseases
Book Club Reader's Guide
Many challenging questions to stimulate thought and discussion.
Instructor's Guide
38 discussion questions to get students thinking and talking about gene therapy, including the science, ethical issues, and the drug approval process.
Narrative science
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.
College Textbooks
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.
Nonfiction
An ideal starting point for anyone who wants to know more about genes, DNA, genomes, and the genetic ties that bind us all.

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