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

Genetic Linkage

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…)

Kids With 2 Upper Jaws -- And My Fruit Flies

May 13, 2012

Tags: homeotic, Drosophila melanogaster, Michael L. Cunningham, Ricki Lewis, American Journal of Human Genetics

3D CT scan of child with ACS. Lower jaw is small and malformed (left); same aged child with normal jaw (middle); lower jaw of child with ACS inverted over upper jaw of normal skull (right). (Credit: Image courtesy of Seattle Children’s).
Body-Altering Mutations – In Children and Flies

I became a science writer, circa 1980, because I didn’t think flies with legs growing out of their heads – my PhD research – had much to do with human health. So when I spied “A Human Homeotic Transformation” way down on the Table of Contents in the May issue of the American Journal of Human Genetics, I was as riveted as a normal person would be getting a copy of People with a celebrity on the cover. (more…)

Older Dads Have More Mutations

February 21, 2012

Tags: sperm, advanced maternal age, paternal age effect, amniocentesis, Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, USC, American Journal of Human Genetics, PLoS Genetics, Down syndrome, multiple endocrine neoplasia, Costello syndrome, Trig Palin, Bella Santorum, trisomy 18, Edwards syndrome

As a genetic counselor, I hate telling a woman over 35 that she’s of “advanced maternal age,” which raises the risk of conceiving a child who has an extra chromosome. Now older men are in the reproductive spotlight too.

Since the nineteenth century, physicians have noted that Down syndrome babies tend to be the (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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