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

Genetic Linkage

A Tale of 2 G-Spots

April 26, 2012

Tags: G-spot, The Journal of Sexual Medicine, Ricki Lewis, Adam Ostrzenski, EurekAlert

First published in Scientific American (blogs), 4/25/12

When cosmetic gynecologist Adam Ostrzenski, MD set out to discover the elusive G-spot, the part of a woman’s anatomy supposedly responsible for orgasm, he followed a flawed premise – but his finding announced today will undoubtedly generate frantic media coverage.

The discovery of the G-spot in a lone elderly corpse and the lack of information on just what Dr. O dissected are obvious limitations of the paper in the Journal of Sexual Medicine, a peer-reviewed publication from Wiley. Less obvious is trouble with a different G – the guanine in genes. (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…)

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. (more…)

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. (more…)

Limits of Genome Sequencing Not a Surprise

April 3, 2012

Tags: whole genome sequencing, whole exome sequencing, Ricki Lewis, Bert Vogelstein, Science Translational Medicine

Comparing whole genome (or exome) sequencing to predict common diseases or identify rare single-gene diseases is like comparing the proverbial apples to oranges.
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. (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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