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

Genetic Linkage

The Denisova Genome and Guys Banging Rocks

August 31, 2012

Tags: Denisova, australopithecine, Svante Pääbo

A Neandertal and Svante Pääbo, director of the Department of Evolutionary Genetics at the Max Planck Institute for Evolutionary Anthropology (photo credit)
As a textbook author, I often have to evaluate new research and predict whether it will stand the test of time. I’m a skeptic. But when Svante Pääbo, director of the Department of Evolutionary Genetics at the Max Planck Institute for Evolutionary Anthropology in Leipzig and his colleagues introduced a new member of the human family in 2010 based on a preliminary genome sequence from a finger bone found in Denisova Cave in the Altai Mountains of southern Siberia, with few other clues, I included her in my book. She was the first discovered Denisovan (pronounced “Denise-o-van”). (more…)

Sex and the Single Slime Mold

August 24, 2012

Tags: Dictyostelium discoideum, sea slug, Siphopteron quadrispinosum, PLoS One, social amoeba

When their bacterial food is scarce, single Dictyostelium cells send signals drawing thousands of cells together, forming a mobile slug. (Wikipedia).
Among the scintillating science headlines this week was a report on the sex life of the sea slug Siphopteron quadrispinosum in PLoS One, complete with a compelling photograph of the dually-endowed hermaphrodites caught in the act. The slugs are too violent for (more…)

Like a Game of “Clue,” Genomics Tracks Outbreak, Revealing Evolution in Action

August 22, 2012

Tags: epidemiology, NHGRI, Science Translational Medicine, genome, Klebsiella pneumoniae, NIH

Genome sequencing traced a deadly bacterial outbreak at the NIH Clinical Center in June 2011.
Was it Colonel Mustard in the library with a lead pipe? Or Mrs. Peacock in the ballroom with a candlestick? No, it was deadly, drug-resistant Klebsiella pneumoniae from a 43-year-old woman spreading to 17 other patients, killing 6 of them and sickening 5 others, at the National Institutes of Health’s (NIH) Clinical Center in June 2011.

In (more…)

Hidden Meanings in Our Genomes – And What To Do With Mendel

August 20, 2012

Tags: human genome, exome, linkage, mutation, American Journal of Human Genetics, Human Genetics: Concepts and Applications, DNA, Huntington disease, cystic fibrosis, osteogenesis imperfecta, ALS, essential tremor, Gregor Mendel, Ricki Lewis

Gregor Mendel: should he stay or should he go (in textbooks)? (National Library of Medicine)
Summer reading for most people means magazines, novels, and similar escapist fare, but for me, it’s the American Journal of Human Genetics (AJHG). Perusing the table of contents of the current issue tells me what’s dominating this post-genomic era: information beyond the obvious, like a subtext hidden within the sequences of A, (more…)

Guest Blog: "I'm in the ACT Stem Cell Trial for Stargardt Disease!"

August 2, 2012

Tags: human embryonic stem cells, Advanced Cell Technology, Wills Eye Institute, Stargardt disease, retinal disease

Maurie Hill, after receiving retinal cells derived from human embryonic stem cells at the Wills Eye Institute in Philadelphia on July 11.
I am thrilled to introduce Maurie Hill, who is having her Stargardt disease (a form of early-onset macular degeneration) treated with retinal cells derived from human embryonic stem cells. I was going to write about her experience (and I will), but she is a great writer, and she and the Ai Squared Blog are sharing her story here. Welcome Maurie! (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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