Ricki Lewis's Blog, page 50

Medical Success Stories: From Cystic Fibrosis to Diabetes

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!

How Ebola Kills

�That�s not Ebola!� I said to the vendor standing beside a display of boxer shorts festooned with pathogens, at a 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 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.

Imprisoned Gene Therapy Pioneer, French Anderson, Launches Website

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.

Spring 2014 Talks on "The Forever Fix" and 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

Upcoming Talks on "The Forever Fix" and Gene Therapy

I'll be giving several invited lectures this fall on The Forever Fix: Gene Therapy and the Boy Who Saved It." Now in paperback, the book is finding its way into many high school and college classrooms. Corey's story, and the others, truly "put a face on genetics." My lectures and an upcoming feature in Scientific American will update the field.

American Society of Human Genetics Undergraduate Workshop
Boston, October 22

Science Teachers Association of New York State
Rochester, NY November 4

National Association of Biology Teachers
Plenary Lecture
Atlanta, November 22

Pennsylvania Science Teachers Association
State College, PA December 5

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

My blog is "DNA Science" at Public Library of Science

Hi everyone! Since last fall I've been blogging for Public Library of Science , at http://blogs.plos.org/dnascience/.

As you can see, I gave up cross-posting here on July 4 because through this site (Author's Guild) I have to type in all the html code, whereas PLOS uses an easy wordpress template. I got lazy. But not about blogging! So check out DNA Science at Public Library of Science. A new post every week, and I'm open to ideas and guest bloggers.

I always try to write about what everyone else misses.

Join me!

When a Disease is Genetic but not Inherited: Bea Rienhoff's Story

Genetics is the study of genes, DNA, and variation; heredity is the passing of inherited traits from parents to offspring. Families with one member, typically a child, who has a collection of unusual symptoms that don�t fit any clinical diagnosis may in fact have a genetic disease � but one that arose spontaneously in the child, rather than having been inherited from carrier parents.

Exome sequencing is helping to solve these genetics-but-not-heredity mysteries. The story of one little girl and her father�s efforts to find her mutant gene, and how the tale wove in and out and now back into my human genetics textbook, illustrates the evolution of personalized genomic medicine.

THE BEA PROJECT
When Hugh Rienhoff first saw his daughter Bea, born in December 2003, he knew something was wrong. Her long feet, clenched fingers, poor muscle tone, widely-spaced hazel eyes, and a facial birthmark might have been just peculiarities to anyone who wasn�t also a physician and a geneticist.

Supreme Court BRCA Decision: Use Correct Terminology!

Earlier today, my �in� box began to fill with info from everyone I�ve ever met letting me know that the Supreme Court had ruled on the Myriad case about patenting the breast cancer genes BRCA1 and BRCA2. I also received a dozen pitches from PR people offering me all manner of instant interviews with lawyers, doctors, bioethicists, and health care analysts.

No one offered me an interview with a geneticist � a person who knows something about DNA. So being such a person myself, I decided to take a look at the decision. And I found an error right smack in the opening paragraph:

Juvenile Huntington's Disease: The Cruel Mutation

Looking back, signs that Jane Mervar�s husband, Karl, had Huntington�s Disease (HD) started about when their youngest daughter, Karli, began to have trouble paying attention in school. Karl had become abusive, paranoid, and unemployable due to his drunken appearance. The little girl, born in September 1996, was hyperactive and had difficulty following directions. When by age 5 Karli�s left side occasionally stiffened and her movements slowed, Jane began the diagnostic journey that would end with Karli�s diagnosis of HD, which had affected the little girl�s paternal grandmother.

Soon Karli could no longer skip, hop, or jump. And new troubles emerged.

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

�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.