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

New Treatment for Phenylketonuria (PKU) Clears Brain Fog

June 21, 2018

Tags: PKU

In the 1959 novella Flowers for Algernon by Daniel Keyes (and the 1968 film Charly), 32-year-old Charlie Gordon, a janitor at a New York City bakery, undergoes experimental surgery that has boosted the intelligence of a laboratory mouse, Algernon. Soon, Charlie is devouring books, asking questions, and even solving problems at work. But then Algernon dies, and in a short while Charlie returns to his normal state of intellectual dullness. But now he becomes distraught, recognizing his limitations in a way that he didn’t before the surgery.

Dan Peterson is about Charlie’s age, and he, too, has recently experienced a new clarity of thinking thanks to a treatment. In Dan’s case it’s an enzyme substitution therapy called Palynziq (pegvaliase-pqpz), which he injects under his skin daily. FDA approved it on May 24 to treat phenylketonuria (PKU). But unlike Charlie’s brief experience, Dan’s treatment should last. (more…)

When Mutation Counters Infection: From Sickle Cell to Ebola

November 19, 2014

Tags: balanced polymorphism, Ebola, sickle cell, cystic fibrosis, natural selection, Niemann-Pick C1, PKU, genetic disease, prions, mad cow disease

Balanced polymorphism retains mutant genes in populations when they protect against other conditions.
While pharmaceutical companies focus on drug discovery for Ebola virus disease, a powerful clue is coming from a rare “Jewish genetic disease” that destroys the brain. People with Niemann-Pick C1 disease can’t get Ebola, adding to the list of disease pairs that arise from a fascinating form of natural selection.

Balanced polymorphism, aka heterozygote advantage, is a terrific illustration of ongoing evolution. And it pits the human body against all sorts of invaders – prions, viruses, bacteria, protozoa, and fungi. (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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