12th edition of my human genetics textbook


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

Genetic Linkage

A Natural History Study Isn’t Necessarily About Dinosaurs

September 24, 2018

Tags: natural history study

Many scientists trace their childhood inspiration to the towering skeletons of dinosaurs that still reign over the regal lobbies of the American Museum of Natural History, myself included. But “natural history” has a different meaning in medical research, especially in evaluating new treatments for rare diseases. Searching PubMed under “natural history study” turns up a curious 75,000 or so entries, including rare diseases and museum taxidermy.

A medical natural history study looks at how a disease unfolds over time, in real patients, to provide a point of comparison and variability for evaluating new treatments. A neurologist, for example, might know how to handle an otherwise healthy child with ADHD; a youngster with ADHD as part of Sanfilippo syndrome presents a different clinical picture. A natural history study provides an idea of what to expect.

To continue reading go to DNA Science, my blog at Public Library of Science, where this post first appeared.

Medical Success Stories: From Cystic Fibrosis to Diabetes

September 4, 2014

Tags: cystic fibrosis, type 2 diabetes, gastric bypass, Leber congenital amaurosis, gene therapy, A1C, natural history study, adenosine deaminase deficiency, SCID-X1

The many guises of CF.
A skinny little boy, with mocha skin and curly black hair, lived in the apartment building next door when I was growing up in Brooklyn in the 1960s. He didn’t live long enough to go to kindergarten. He had cystic fibrosis.

Today’s tots with CF face a far brighter future. A recent report in the Annals of Internal Medicine applied trends in survival from 2000 to 2010 to project life expectancy for children diagnosed in 2010: 37 years for girls and 40 years for boys. (The difference may reflect hormones or the extra creatinine in the more muscular male of the species.) Factoring in the current rate of treatment improvements gives a soaring median survival of 54 years for women and 58 years for men when those kids grow up! (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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