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Ricki Lewis

Genetic Linkage

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. Read More 
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Vanquishing “Mossy Foot” With Genetic Epidemiology and Shoes

April 19, 2012
Tags: mossy foot, podo, podoconiosis, Charles Rotimi, Ricki Lewis, Fasil Tekola Ayele, Center for Research on Genomics and Global Health, National Human Genome Research Institute (NHGRI).
Podoconiosis is painful and isolating, affects millions, and is completely curable -- with shoes.
This blog was first published at Scientific American blogs

In Fasil Tekola Ayele’s native Ethiopia, the people call it “mossy foot.” Medical textbooks call it podoconiosis, non-filarial elephantiasis, or simply “podo.”

The hideously deformed feet of podo result not from mosquito-borne parasitic worms, as does filarial elephantiasis, nor from bacteria, like leprosy. Instead, podo arises from an immune response to microscopic slivers of mineral that penetrate the skin of people walking barefoot on the damp red soil that tops volcanic rock. Podoconiosis means “foot” and “dust” in Greek.  Read More 
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Treat Cellulite, or Rare Diseases?

April 11, 2012
Tags: Cellulite, rare diseases, Ricki Lewis, The Forever Fix, Today show, Cellulaze, NORD, CheckOrphan, Canavan Research Illinois, Cystinosis Research Foundation, Hannah's Hope Fund
“Next, news that all women will want to hear!” teased the commentator on the increasingly imbecilic Today Show.

Soon I learned that, finally, we womenfolk need no longer suffer from the “horrible, dimpled ‘orange peel’ skin” of cellulite. The new miracle cure sounded like “cellulase,” an enzyme that breaks down wood.

Googling, I soon discovered that “Cellulaze” is instead a new laser technique that “pinpoints and disrupts dimpled pockets of herniated fat” and melts away the collagen cords that hold in place the vile lipid, while promoting formation of new collagen and elastin. It joins a long list of cellulite remedies, including sound waves, radio waves, massage, retinol, red algae patches, and extracts from licorice roots, horse chestnut, and kola. The market is $2.3 billion. Read More 
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Limits of Genome Sequencing Not a Surprise

April 3, 2012
Tags: whole genome sequencing, whole exome sequencing, Ricki Lewis, Bert Vogelstein, Science Translational Medicine
The news is being trumpeted everywhere – whole genome sequencing won’t help the average person predict common illnesses.

This isn’t exactly astonishing to anyone who has taken a genetics course, but the Johns Hopkins team, in Science Translational Medicine, provides elegant evidence to back up the long-held idea that the so-called “complex," common diseases result from so many intertwined inherited as well as environmental threads that using a DNA sequence as a crystal ball just won’t work – at least until more data accumulate. Read More 
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Seeking a Second, More Specialized Opinion

March 28, 2012
Tags: osteogenesis imperfecta, brittle bone disease, Ricki Lewis
A challenge of living with a genetic disease, especially a very rare one, is that the mutation may affect different body parts. A health care practitioner may not consider a patient’s inherited condition, especially if the most recognizable symptoms don’t fall into his or her specialty.

Shirley Banks discovered the importance of seeking a second, specialized opinion when the doctor she’d been seeing for many years had a disturbing reaction to a question.

The Long Road to a Diagnosis

The Banks family has osteogenesis imperfecta, (OI) which affects 1 in 20,000 live births.  Read More 
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In Praise of Mentors

March 25, 2012
Tags: teacher, drosophila, Genetics Society of America, Stony Brook, Indiana University, Elof Carlson, Ricki Lewis, Hermann Muller, teaching assistant, University of Southern Indiana, Bloomington Indiana
In Praise of Mentors

I found him on Linked In, an unusual but familiar name among the many that the networking website had somehow deduced I should connect to. Elof Carlson, a blast from my past.

Back in fall 1975, when I was at SUNY Stony Brook, he taught Bio 101, and enlisted senior biology majors as his teaching assistants. Dr. Carlson, author of 14 books and a beloved teacher of many, was the first person to teach me how to teach. Read More 
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The Forever Fix is Published! A Short Reader’s Guide

March 16, 2012
Tags: The Forever Fix: Gene Therapy and the Boy Who Saved It, Ricki Lewis, Corey Haas, gene therapy, medicine, Biotechnology, DNA, St. Martin's Press
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.  Read More 
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Animal Research Saves Lives: A Blast From My Fruit Fly Past

March 9, 2012
Tags: animal research, PETA, Ricki Lewis, #dros2012, The Forever Fix: Gene Therapy and the Boy Who Saved It, Drosophila Research Conference
Gene therapy gave vision to Corey Haas. (photo: Dr. Wendy Josephs)
Chicago – I left fruit fly research circa 1982, shortly after earning my PhD in genetics, because I didn’t think insects with legs growing out of their heads was of much import to human health.

Although I went on to a rewarding career as a writer, I quickly learned that I was wrong about the  Read More 
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Anticipation

February 25, 2012
Tags: rare diseases, rare disease day, spinocerebellar ataxia type 2, SCA2, SCA1, fragile X syndrome, expanding triplet repeat, genetic testing, ALS, Lou Gehrig's disease, Parkinson's Disease, Huntington's disease, myotonic dystrophy, amyotrophic lateral sclerosis, Carly Simon, Anticipation, X chromosome, mutation, Ricki Lewis, The Forever Fix: Gene Therapy and the Boy Who Saved It
Jordan and Hailey Kohl. Spinocerebellar ataxia type 2 affects several members of their family, including Jordan.
“Anticipation .. is keepin’ me waitin’,” sings Carly Simon in her song made famous in a ketchup commercial. But “anticipation” in the genetic sense is just the opposite of Carly’s croon – it means a disease that begins earlier with each generation.

Doctors once blamed patients for anticipation, as if people with sick older relatives could worry themselves into suffering similarly. Then, in 1991, discovery of a new type of mutation explained the curious worsening of fragile X syndrome: an expanding triplet repeat.  Read More 
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The Y Chromosome: Size Matters

February 22, 2012
Tags: Y chromosome, David Page, Jennifer A. Marshall-Graves, Jennifer Hughes, X chromosome, Ricki Lewis, Human Genetics: Concepts and Applications
The human Y chromosome
Let me get this straight: The human Y chromosome has barely changed from that of a rhesus macaque, a monkey from whom we parted ways some 25 million years ago, and that’s good news? I suppose compared to disappearing, it is.

For several editions now, my human genetics textbook has run an “In Their Own Words” essay in which MIT’s David Page, protector of the Y, has defended the measly male chromosome against charges from Jennifer A. Marshall-Graves, of Australian National University, that it is disappearing. She helpfully points out in my book, “You can lack a Y and not be dead, just female,” then goes on to call the Y “a pathetic little chromosome that has few genes interposed with lots of junk.”  Read More 
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