New edition coming in September 2014!!!


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.

Tags

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

Genetic Linkage

Eman’s Emails from Liberia: Through September

October 24, 2014

Tags: Ebola, Liberia, virus, epidemiology, Monrovia

Emmanuel Gokpolu with his son, little Larry
Emmanuel Gokpolu, who lives in Liberia, calls me Mom, although he has a wonderful real mother. In Africa, family isn’t only about DNA.

Eman contacted me in 2007, after using my human genetics textbook in college. My husband Larry and I had been putting him through medical school in Monrovia -- until Ebola happened. Now the funds go for gloves, long sleeve shirts, detergents, food and medicine, to keep Eman and his family, including his almost-one-year-old son, Larry, safe.

This week Eman asked me to share his emails, which began arriving before many people here had heard of Ebola virus disease, or cared much about it if they had. The disease seemed, and was, half a world away.

The world is a small place. (more…)

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. (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…)

DNA and Dating: Buyer Beware

September 28, 2014

Tags: DNA, genetic testing, DNA and dating

Is DNA dating destiny?
Last week’s post dealth with three very serious applications of DNA testing. But not all DNA testing is to detect health-threatening conditions.

“Born to Run? Little Ones Get Test for Sports Gene,” ran the headline on the front page of the New York Times, above an arresting image of a preschooler having his mouth swabbed for DNA. It’s from 2008, but remains a classic: I still assign it.

The sports gene company is apparently still around and still testing for variants in just one gene: ACTN3. Two copies of the R577X variant indicate inborn skill at endurance events, and no copies suggest a child stick to sprints. The lucky heterozygotes might excel at both! Never mind that a child has some 20,000 or so other genes affecting physiology.

DISSECTING A DNA DATING WEBSITE
The most damage a sports gene test can do is to keep a child from doing something she loves because of a DNA-obsessed parent. A more questionable application of DNA testing is as part of “relationship science,” something I learned about a few weeks ago when a reporter from healthline.com asked me about it. (more…)

Genetic Testing For All: Is It Eugenics?

September 21, 2014

Tags: genetic testing, eugenics, NIPT, BRCA, carrier testing, DNA

(NHGRI)
In recent weeks, there’s been talk of three types of genetic testing transitioning from targeted populations to the general public: carrier screens for recessive diseases, tests for BRCA cancers, and non-invasive prenatal testing (NIPT) to spot extra chromosomes in fetuses from DNA in the maternal bloodstream.

Are these efforts the leading edge of a new eugenics movement? It might appear that way, but I think not.

When I began providing genetic counseling 30 years ago at CareNet, a large ob/gyn practice in Schenectady, NY, (more…)

Black Pee Disease Offers New View of Arthritic Joints

September 13, 2014

Tags: arthritis, alkaptonuria, inborn error of metabolism, human genetics

The urine of a person with alkaptonuria turns dark upon standing.
When I read the headline of a recent press release – "A new cause of osteoarthritis identified by research on a rare disease" -- I was drawn to "rare disease," even though I actually have osteoarthritis. And when I read “alkaptonuria," I was catapulted back more than a century to the first description of an "inborn error of metabolism.” (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…)

How Ebola Kills

August 17, 2014

Tags: Ebola, Liberia, virus, epidemiology, Monrovia

Emmanuel Gokpolu is my African "son," living in the midst of the Ebola crisis in Monrovia, Liberia.
(An updated version of this post appears at my Public Library of Science blog DNA Science.)


“That’s not Ebola!” I said to the vendor standing beside a display of boxer shorts festooned with pathogens, at a National Association of Biology Teachers conference a few years ago.

“No, that’s Ebola. Read the tag.”

“The tag’s wrong. It’s influenza. See the spokes on the surface? Ebola looks like a long soup ladle.”

He didn’t believe me, but the website was corrected a few months later. I still have my faux Ebola shorts somewhere.

JUST 7 GENES
The stark seeming-simplicity of the Ebola virus flashes across my mind whenever I get email from Emmanuel, a medical student in Liberia. My husband and I have been supporting his education since he contacted me in 2007 after reading Human Genetics: Concepts and Applications, my textbook very soon to be published in its 11th edition. The story of our relationship, today between two families, is here, but since then Eman has become a father, naming his son after my husband Larry.

Eman is our son in the African sense, not based on DNA. Escalating panic pervades his emails of the past few days. Right now he has a high fever, headache, and diarrhea, but says it is "only typhoid, not to worry."

The electronic communication with our Liberian friend is odd in the face of the crumbling infrastructure, the abandoned hospitals and schools. He taps on a phone, too terrified to enter an Internet cafe. And I’m mortified that the NBC nightly news placed a lengthy NASCAR crash report before an Ebola update. Eman wants to know why the US didn’t pay attention until the arrival here of two white, American patients. So do I. (more…)

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. (more…)

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



Selected Works

blog posts
An annotated table of topics and textbook chapter #s for my DNA Science blog posts at Public Library of Science.
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
DNA reflects who we are -- but it isn’t the whole story.

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