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

Genetic Linkage

Can a Quirky Chromosome Create a Second Human Species?

January 29, 2016

Tags: Robertsonian translocation

Genome sequencing hides chromosome rearrangments -- which may be clinically very important.
In this age of genome sequencing, we can lose sight of the importance of how our genomes are distributed over 23 pairs of chromosomes. Rearrangements of the pairs are invisible to sequencing, because the correct amount of genetic material is present.

A recent genetic counseling session reminded me of a chromosomal quirk that flies completely under the radar of genome sequencing, yet if it turns up in two copies in a bunch of people who have sex, could actually begin a second human species, who have 22 pairs of chromosomes. (more…)

instruction
Project to engage students in helping families with rare genetic diseases
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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.
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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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