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

Genetic Linkage

Rare Diseases: 5 Recent Reasons to Cheer

July 31, 2012

Tags: rare disease, Leber congenital amaurosis, gene therapy, exome sequencing

3-year-old Gavin Stevens is at the center of one of four papers just published in Nature Genetics about the discovery of a childhood blindness gene.
(This blog first appeared at Scientific American blogs on July 29. I have written about the 4 childhood blindness papers for Medscape Today, to be published August 2 or 3.)

On Sunday morning, July 21, I faced a room of people from families with Leber congenital amaurosis (LCA), an inherited blindness caused by mutations in any of at least 18 (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…)

A Good Death, the Hospice Way

July 13, 2012

Tags: hospice

I stood among her things, piled on the bed, a scene that always astonishes me. For this is what many people are reduced to at the end: after a series of downsizings, a small pile of stuff.
This morning I drove up to what’s left of the Glendale Nursing Home, in Glenville NY, a mile from my home. The series of connected old buildings is still intact, a backdrop to a new gaping hole that will give forth to a new facility. But for now, the (more…)

If “Fifty Shades of Grey” Had Been Written by a Biology Textbook Author

July 10, 2012

Tags: Fifty Shades of Grey, Christian Grey, Anastasia Steele, Ricki Lewis, biology textbook

What if "Fifty Shades of Grey" was about -- digestion?
Come summertime, even nerds need to escape to a trashy novel. Megabestseller “Fifty Shades of Grey” tells the tale of Anastasia Steele, an innocent ensnared within the orbit of the mysterious “dominator” Christian Grey. Despite its enshrinement at the top of the Amazon ranks, the book reads as if written by a horny 15-year-old, (more…)

Human Stem Cells from Amniotic Fluid

July 4, 2012

Tags: human embryonic stem cells, induced pluripotent stem cells, transcriptome, amniotic stem cells, valproic acid

Stem cells from amniotic fluid are like Russian nesting dolls -- they are derived from the cells that would become sperm or eggs in a fetus.
A new source of human stem cells reminds me of Russian nesting dolls: They come from amniotic fluid. When exposed to a seizure drug (valproic acid), they divide to give rise to cells that can specialize as nearly any cell type – they are “pluripotent,” like embryonic stem (ES) cells. But the new stem cells are most like precursor cells in a fetus that become sperm and eggs. And so the cells derived from an organ in a pregnant woman might otherwise, if paired with the opposite type of sex cell, have become her grandchildren! (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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