Tag: genetic disease

Research on Quebec's Rare Brain Disease Could Help Unravel the Common Ones

By Valerie Ross | January 17, 2012 2:56 pm

Artist’s rendering of a mitochondrian, the energy-producing
cellular structure affected by ARSACS

Scientists have pinpointed the cause of a rare, fatal neurodegenerative disorder called ARSACS, or autosomal recessive spastic ataxia of Charlevoix-Saguenay. The disease is due to defects in neuron’s mitochondria, the bit of biological machinery that generates energy for the cell—a structure known to be affected in Parkinson’s, Alzheimer’s, and other neurological diseases, as well.

ARSACS was first observed in the descendants of a small group of 17th century French settlers who made their homes near the Charlevoix and Saguenay rivers in what is now Quebec, and has since been seen worldwide. But its incidence remains unusually high in that particular French Canadian community, with 1 in 1,500 to 2,000 people developing ARSACS and 1 in 23 people unaffected genetic carriers of the disease.

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CATEGORIZED UNDER: Health & Medicine, Mind & Brain

Genetically Engineering Babies With Less Disease—and 3 Parents—Seems Safe

By Veronique Greenwood | April 21, 2011 9:22 am

embryo
Swapping chromosomes among eggs could keep
embryos from inheriting genetic diseases.

What’s the News: Babies with three parents and fewer genetic diseases might soon be possible: A UK national health panel has found that techniques for swapping chromosomes between eggs so offspring don’t inherit disease-causing mutations from their mother’s mitochondria are not dangerous. The techniques, which have been tested in mice, monkeys, and human cells, still need to be studied more before making the transfer to the clinic, though, and as with all genetic engineering techniques, there’s a complex ethical maze ahead of researchers. 

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CATEGORIZED UNDER: Health & Medicine
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