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

Genetic Linkage

Cystic Fibrosis Among Asians: Why Ethnicity-Based Genetic Testing is Obsolete

July 10, 2017

Tags: cystic fibrosis, genetic testing, carrier screening

Pseudomonas aeruginosa, a bacterium that inhabits the lungs of many people who have cystic fibrosis, but is otherwise rare.
A hypothetical heterosexual couple living in the US or UK takes tests to learn if they are carriers of the more prevalent recessive diseases. They’re relieved to find out that cystic fibrosis (CF) isn’t something they need worry about passing to their children – neither has any of the few dozen mutations the test panel includes.

The couple do not carry the most common 32, 106, or even 139 disease-causing mutations in the CFTR gene, the number depending upon the testing lab. But that could be a problem – a false negative – if the woman and man are anything other than non-Hispanic whites.

More than 2,000 variants (alleles) of CFTR are known, and their prevalence varies in different populations. That’s not because DNA recognizes the race or nationality of the person whose cells it’s in, but because of how we choose our partners. (more…)

Can CRISPR Conquer Huntington’s?

July 1, 2017

Tags: HD, Huntington's Disease, CRISPR, gene editing

In HD extended huntingtin protein builds up in medium spiny neurons in the striatum.
I set a high bar for writing about mouse studies. I don’t include them in my textbooks or news articles, and only rarely blog about them. But when experiments in mice shine a glimmer of hope on a horrific illness with a long history of failed treatments, I pay attention. That happened last week for a report on editing out of mice the human version of the mutant Htt gene that causes Huntington disease (HD), published in the Journal of Clinical Investigation. (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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