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

Genetic Linkage

The Curious Genetics of Werewolves

December 27, 2012

Tags: werewolf, hypertrichosis, Ambras syndrome, human genome

The "wolf boy" brothers have Ambras syndrome, an autosomal dominant condition that may have inspired the werewolf legend (Gary Moore photo).
Growing up in the 1960s, I collected monster cards: The 60-foot-man and the 50-foot woman; body doubles gestating in giant seed pods; unseen Martians that sucked people into sand pits and returned them devoid of emotion, with telltale marks on the back of the neck. One card featured a very young Michael Landon in “I Was a Teenage Werewolf.”

Forgive my lapse in political correctness, but I recalled those cards when I saw the word “hypertrichosis” in a recent paper in PLOS Genetics because, unfortunately, the condition is also known historically as “werewolf syndrome.” (more…)

Excerpt about Canavan disease from "The Forever Fix: Gene Therapy and the Boy Who Saved It"

December 19, 2012

Tags: gene therapy, Canavan disease

Max Randell smiles at his middle school graduation.
The excerpt below supplements the blog entry that is beneath it and also at Public Library of Science. It is from The Forever Fix: Gene Therapy and the Boy Who Saved It, (St. Martin's Press, 2012).


I sat at a table with Paola, Mike, Max and Max’s charming little brother Alex, who was eight going on twenty-eight. While the adults ate chicken alfredo (except for vegetarian Paola) and the kids downed chicken fingers and fries, Mike leaned over Max, pulled up his shirt, and deftly attached a bag of cream-colored stuff to the feeding tube coming from his son’s stomach, holding it aloft for the food to go in. At the front of the ballroom, Ilyce, svelte in a shimmering blue gown, was getting ready for her annual thank-you. (more…)

Gene Therapy for Canavan Disease: Max’s Story

December 19, 2012

Tags: gene therapy, Canavan disease

Max celebrated his 15th birthday on October 13, 2012. His best friend is his brother Alex, a future neuroscientist.
I’m thrilled about the encouraging gene therapy results just published in Science Translational Medicine from Paola Leone, PhD and R. Jude Samulski, PhD, and colleagues. “Long-term follow-up after gene therapy for Canavan Disease” updates a project that has its origins in the mid 1990s. Canavan disease is a brain disorder present from birth.

I’ve been following some of the kids who’ve had the gene therapy. One patient in particular – Max Randell – has been in my human genetics textbook since age three, his progress updated with each edition. (more…)

When An Arm Is Really A Leg

December 14, 2012

Tags: homeotic

The hands of a person with Liebenberg syndrome may actually be feet. (Credit: Dr. Malte Spielmann)
Flipping the X-ray showed Stefan Mundlos, MD, that his hunch was right – the patient’s arms were so odd and stiff because the elbows were actually knees.

The recent report from Dr. Mundlos’ group at the Max Planck Institute for Molecular Genetics, complete with a genetic explanation for the condition, flew under the radar of the press-release-driven science news aggregators. But I noticed it because I worked on this sort of thing in grad school – flies with legs growing out of their heads. (more…)

The Battle of the Prenatal Tests

December 9, 2012

Tags: chromosomal microarray, DNA chip, genome sequencing, translocation, prenatal testing, amniocentesis, ultrasound, genetic counseling

(credit: NHGRI)
The young couple looked at me expectantly as I re-read the amnio report and tried to decide what to tell them.

“The ultrasound from 15 weeks looks fine,” I stalled, trying to present the good news first.

“What about the amnio?”

“Well, there is something unusual. It’s the Y chromosome. Part of it appears to be flipped. What we call an inversion. It’s a little like if the exits on a highway turned around,” I explained.

The couple looked at each other, puzzled, then back at me, and he reached for her hand.

“What does that mean?” they both asked. (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 11th edition, 12th to be published in September 2018.
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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