12th edition of my human genetics textbook


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

Genetic Linkage

"The Sighted Leading the Sighted"

August 3, 2010

Tags: gene therapy, blindness, animal research, University of Pennsylvania, Foundation for Retinal Research

Normally a 9-year-old boy cavorting with a big, shaggy dog isn’t anything unusual, but when Corey Haas grabbed the leash of 1-year-old Mercury last Saturday, it was a stunning sight. For both Corey and Mercury, a briard sheepdog, were born with the exact same form of hereditary blindness, Leber congenital amaurosis (LCA). And both can now see thanks to gene therapy.

The scene was the University of Pennsylvania campus, for the 2010 Family Conference for the Foundation for Retinal Research, and the all-day scientific symposium was about to start. Scientists and physicians would explain their work to the parents, while the kids, the visually impaired and their sighted sibs, were off on a well-planned adventure.

At the front of the large lecture room, neither boy nor dog would sit still, and so Betsy Brint, head of the organization with husband David, simply stated what everyone could hardly put into words as they stared: it was the sighted leading the sighted.

The dogs who had the gene therapy as part of preclinical trials are up for adoption by the LCA families – and the list of potential owners is long. And it was a long time in coming. The very first dog to be treated, Lancelot, father of Mercury, was just beginning to be able to see when Corey Haas was born.

The successful gene therapy for LCA – Corey isn’t the only one to have been helped – is a wonderful story of both translational medicine (“bench to bedside”) and the use of animals in research. A happy ending for all.
(See BIO-IT World)

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.
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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