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

Genetic Linkage

Another Bump in the Road for Gene Therapy?

February 4, 2013

Tags: gene therapy, Leber congenital amaurosis, RPE, photoreceptor, blindness

Mercury can see, thanks to gene therapy. (Foundation for Retinal Research)
I am astonished, once again, by the complexity and unpredictability of science.

Last week, a paper in the Proceedings of the National Academy of Sciences (PNAS) reported that gene therapy to treat a form of blindness called Leber congenital amaurosis type 2 (LCA2) doesn’t stop degeneration of the rods and cones – the photoreceptor cells that provide vision. Gene therapy sends the genetic instructions for a protein called RPE65 into a layer of cells that supports the rods and cones – the retinal pigment epithelium, or RPE. The protein is essential for the eye to use vitamin A. And the gene therapy works, so far. (more…)

Retinal Stem Cells and Eye of Newt

January 16, 2013

Tags: stem cells, RPE, age-related macular degeneration, iPS cells, Neural Stem Cell Institute, Foundation Fighting Blindness

Human RPE cells in culture look like cobblestones; 3% of them behave like stem cells, in dishes. Can they treat eye diseases from within? (Tim Blenkinsop)
More than a decade before Sally Temple, PhD, and her husband Jeffrey Stern, MD, PhD, discovered stem cells in human eyes, they suspected the cells would be there. They knew it from the salamanders.

A SPECIAL FONDNESS FOR AMPHIBIANS
When William Shakespeare included “eye of newt” ingredients of the Three Witches’ brew in Macbeth, he probably knew what he was doing. Dr. Temple, who grew up in northern England, said it’s long been common knowledge there that newts can regrow their parts. In the late 1800s, biologists began to study regeneration in salamanders.

By the 1950s, embryologists had discovered that certain amphibian eyes regenerate thanks to a single layer of cells, called the retinal pigment epithelium (RPE), which hugs the photoreceptors (the rods and cones). (more…)

Gavin's Story Revisited -- Childhood Blindness Mutation Discovered

July 29, 2012

Tags: exome sequencing, mutation, RPE, LCA, Foundation for Retinal Research

Gavin's mutation (in the NMNAT1 gene), discovered 8 months ago, was announced July 29, in Nature Genetics.
I'm rerunning this blog post from November, because Gavin's mutation was announced today -- the first step towards a gene therapy! Tomorrow I'll run my blog on the discovery that is now on Scientific American blogs.


In a hotel ballroom on the campus of the University of Pennsylvania on a midsummer Saturday in 2010, an unusual roll call was under way at the Family Conference for the
Foundation for Retinal Research
. Betsy Brint, co-head of organization, was calling out what sounded like code words – CEP290, (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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