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Genetic Linkage

Guest Blog: "I'm in the ACT Stem Cell Trial for Stargardt Disease!"

Maurie Hill, after receiving retinal cells derived from human embryonic stem cells at the Wills Eye Institute in Philadelphia on July 11.
I am thrilled to introduce Maurie Hill, who is having her Stargardt disease (a form of early-onset macular degeneration) treated with retinal cells derived from human embryonic stem cells. I was going to write about her experience (and I will), but she is a great writer, and she and the Ai Squared Blog are sharing her story here. Welcome Maurie! Read More 
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Rare Diseases: 5 Recent Reasons to Cheer

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  Read More 
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Gavin's Story Revisited -- Childhood Blindness Mutation Discovered

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,  Read More 
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A Good Death, the Hospice Way

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

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,  Read More 
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Human Stem Cells from Amniotic Fluid

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! Read More 
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4 Suggestions for Halting the Lethality of Cancer

Brain tumors (photo from Glia, 2002, Ignatova, T. et al, courtesy D.A. Steindler.)

(Originally published at Scientific American, guest blog, June 26)

I had a very strange week. While in Washington, D.C., writing news releases for the Model Organisms to Human Biology: Cancer Genetics meeting sponsored by the Genetics Society of America, I had left, back home in upstate New York, my dear hospice patient. Ruth was nearing the end of her battle with liver cancer. It was jarring to go from holding her hand to listening to litanies of deranged signal transduction pathways and cascades of mutations that cause the damn diseases. Read More 
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The Bonobo Genome, Dave Matthews, and Rewinding the Tape of Life

Ulindi, a bonobo, has had her genome sequenced. Photo courtesy Max Plank Institute for Evolutionary Anthropology
When I wrote for The Scientist, I covered the debuts of several genome sequences – fruit fly, rat, pufferfish, and the plague bacterium, to name a few. An illustration in my human genetics textbook resembles the intro to The Brady Bunch, a checkerboard of nine new genomes with each edition, now with more than 1,000 to choose from. In just the past few weeks, several salad ingredients have had their genomes unveiled.

But the genome sequence to intrigue me the most, except for our own, is that of the bonobo, aka Pan paniscus.  Read More 
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Max Graduates!

14-year-old Max Randell, who has Canavan disease, is graduating middle school!
Max Graduates!

Tomorrow night, Max Randell will graduate from middle school. He even passed a test on the U.S. Constitution. I don’t think I could do that.

Max has Canavan disease. And thanks to gene therapy, he’s here to celebrate.

Canavan disease is an inherited disease that strips the insulation from nerve cells in the brain. It destroys neural function, beginning at birth and likely before, and the child loses the battle by age 8 -- unless she or he has gene therapy, still experimental (as are all gene therapies).  Read More 
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The “Valley of Death” Looms for 8 Kids With a Rare Disease

Hannah Sames, here with her dog Ginger, awaits gene therapy. (photo: Dr. Wendy Josephs)
The pharmaceutical industry rightly calls the stage in drug development between basic research and clinical trials the “Valley of Death.” This is when a potential treatment that’s worked in mice, monkeys, and the like catapults to a phase 1 clinical trial to assess safety. It’s rare.

Francis Collins, MD, PhD, director of the National Institutes of Health, calls this period “where projects go to die.” The reason: $.

Matthew Herper writes in Forbes that the cost of developing a new drug is $4-11 billion, not the $1 billion that Pharma often claims. Yet even that $1 billion is unimaginable, especially when you put a face on a rare disease and witness what the family goes through to leap to phase 1.

For me, that face belongs to 8-year-old Hannah Sames, of Rexford, New York. Read More 
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