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

Genetic Linkage

Anticipation

February 25, 2012

Tags: rare diseases, rare disease day, spinocerebellar ataxia type 2, SCA2, SCA1, fragile X syndrome, expanding triplet repeat, genetic testing, ALS, Lou Gehrig's disease, Parkinson's disease, Huntington's disease, myotonic dystrophy, amyotrophic lateral sclerosis, Carly Simon, Anticipation, X chromosome, ALS, mutation, Ricki Lewis, The Forever Fix: Gene Therapy and the Boy Who Saved It

Jordan and Hailey Kohl. Spinocerebellar ataxia type 2 affects several members of their family, including Jordan.
“Anticipation .. is keepin’ me waitin’,” sings Carly Simon in her song made famous in a ketchup commercial. But “anticipation” in the genetic sense is just the opposite of Carly’s croon – it means a disease that begins earlier with each generation.

Doctors once blamed patients for anticipation, as if people with sick older relatives could worry themselves into suffering similarly. Then, in 1991, discovery of a new type of mutation explained the curious worsening of fragile X syndrome: an expanding triplet repeat. (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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