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

Genetic Linkage

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…)

Human Embryonic Stem Cells Finally Reach Clinical Trials: Maurie’s Story

October 3, 2012

Tags: human embryonic stem cells, Advanced Cell Technology, Wills Eye Institute, Stargardt Disease, Foundation Fighting Blindness, Maurie Hill

This is what Maurie Hill sees with her left eye covered when observing the eye chart from a meter away (credit: Derek Bove)
On July 11, Wills Eye Institute ophthalmologist Carl Regillo delicately placed 100,000 cells beneath the retina of 52-year-old Maurie Hill’s left eye. She was rapidly losing her vision due to Stargardt disease, an inherited macular dystrophy similar to the much more common dry age-related macular degeneration (AMD).

Maurie’s disease was far along, the normally (more…)

Gene Therapy Changes the Brain

February 8, 2012

Tags: gene therapy, LCA2, Corey Haas, Jean Bennett, Ricki Lewis, CHOP, University of Pennsylvania, The Forever Fix: Gene Therapy and the Boy Who Saved It, Foundation Fighting Blindness, Leber congenital amaurosis, retinitis pigmentosa, second gene therapy, Science Translational Medicine, fMRI

It doesn't take a brain scientist to see that the visual cortex of this formerly-blind woman lights up -- after gene therapy.
It isn’t often that a brain scan chokes me up, but this one did. The fMRI shows area 17 of the visual cortex coming to life in a woman born with Leber congenital amaurosis type 2 (LCA2). She’s part of the very same gene therapy clinical trial chronicled in my upcoming book The Forever Fix: Gene Therapy and the Boy Who Saved It. The symbolic boy is Corey Haas, who, four days after gene therapy in 2008 at age 8, screamed when he saw the sun at the Philadelphia zoo, his shadow world suddenly brightened. (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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