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Genetic Linkage

When a Bad Animal Model is Good: Cystic Fibrosis

(NHGRI)
A “good” animal model is one that has the same symptoms of a disease that we do, right?

Not always. Sometimes we can actually learn more when an animal is not a perfect model; their good health can reveal new points of intervention. That’s the case for cystic fibrosis, according to findings published in Science. Mice with cystic fibrosis (CF) that do not develop airway infections hold a chemical clue to how people with CF might do the same. Read More 
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Can a Quirky Chromosome Create a Second Human Species?

Genome sequencing hides chromosome rearrangments -- which may be clinically very important.
In this age of genome sequencing, we can lose sight of the importance of how our genomes are distributed over 23 pairs of chromosomes. Rearrangements of the pairs are invisible to sequencing, because the correct amount of genetic material is present.

A recent genetic counseling session reminded me of a chromosomal quirk that flies completely under the radar of genome sequencing, yet if it turns up in two copies in a bunch of people who have sex, could actually begin a second human species, who have 22 pairs of chromosomes. Read More 
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Hannah’s 2016: From Curling Toes to Gene Therapy

Hannah Sames will have gene therapy in March, after an 8-year effort from her family. Go Hannah!
Eleven-year-old Hannah Sames can still curl her toes, just barely. But time is running out.

If Hannah can move her toes for a few more weeks, until she becomes the fourth child in a clinical trial for gene transfer to treat giant axonal neuropathy (GAN), the disease might halt – she may even regain function, as mice did.

It’s been an 8-year wait. So Facebook friends call 2016 “Hannah’s year.”

The first sign that something was amiss  Read More 
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