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

Genetic Linkage

Gene Action Tracks an Autoimmune Disease: Systemic Sclerosis

January 5, 2017

Tags: systemic sclerosis, scleroderma

Systemic sclerosis (Ssc) is a rare disease in which collagen gloms up internal organs and toughens the skin into an armor of sorts. It's also called scleroderma, from the Greek for “hard” (skleros) and “skin” (derma). Ssc is autoimmune, not inherited, but a recent report in JCI Insight describes how gene expression profiling -- transcriptomics – can add precision to diagnosis, monitor response to treatment, and identify drugs that might be repurposed to target SSc. (more…)

Male DNA in Female Brains Revisited

October 25, 2012

Tags: microchimerism, prenatal diagnosis, genetic testing, systemic sclerosis, cell-free fetal DNA, non-invasive prenatal testing

Fetal cells remain in moms -- that isn't news. But the discovery of fetal DNA in women's brains is. (credit: Jay Shendure lab)
“Some women actually have men on the brain” beckoned the headline from the LA Times on September 27, echoing an article in PLoS One describing the discovery of male fetal DNA in the brains of pregnant women. It was “an astonishing finding,” according to the newspaper, necessitating “a new paradigm of the biological self” according to lead author J. Lee Nelson of the Fred Hutchinson Cancer Research Center and the University of Washington.

I suspect Dr. Nelson was quoted out of context, for the idea of two genetically distinct populations of cells, or their DNA, residing in one individual isn’t new. It’s called microchimerism. (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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