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

Genetic Linkage

Rare Disease Day 2017: Talia's Story

February 28, 2017

Tags: gene therapy, Charcot-Marie-Tooth Disease, trisomy 21, Down syndrome, CMT4J

Talia Duff with Cynthia the Hippo
This year for Rare Disease Day – February 28th – DNA Science honors Cure CMT4J: Advancing Gene Therapy for Rare Diseases, run by Jocelyn and John Duff. Their daughter Talia’s “diagnostic odyssey” was unusually long because Down syndrome obscured a second condition, an extremely rare form of Charcot-Marie-Tooth (CMT) disease. (more…)

Disappearing Down Syndrome, Genetic Counseling, and Textbooks

August 13, 2015

Tags: Down syndrome, trisomy 21, genetic counseling, Art Caplan, Chloe's Law

Last week, several people sent me a perspective piece by bioethicist Art Caplan published in PLOS Biology, "Chloe’s Law: A Powerful Legislative Movement Challenging a Core Ethical Norm of Genetic Testing." The concise and compelling article considers legislation to mandate that genetic counselors talk to their patients more about positive aspects of having a child with trisomy 21 Down syndrome. (more…)

Older Dads Have More Mutations

February 21, 2012

Tags: sperm, advanced maternal age, paternal age effect, amniocentesis, Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, USC, American Journal of Human Genetics, PLoS Genetics, Down syndrome, multiple endocrine neoplasia, Costello syndrome, Trig Palin, Bella Santorum, trisomy 18, Edwards syndrome

As a genetic counselor, I hate telling a woman over 35 that she’s of “advanced maternal age,” which raises the risk of conceiving a child who has an extra chromosome. Now older men are in the reproductive spotlight too.

Since the nineteenth century, physicians have noted that Down syndrome babies tend to be the (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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