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Genetic Linkage

Black Pee Disease Offers New View of Arthritic Joints

The urine of a person with alkaptonuria turns dark upon standing.
When I read the headline of a recent press release – "A new cause of osteoarthritis identified by research on a rare disease" -- I was drawn to "rare disease," even though I actually have osteoarthritis. And when I read “alkaptonuria," I was catapulted back more than a century to the first description of an "inborn error of metabolism.”  Read More 
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When a Disease is Genetic but not Inherited: Bea Rienhoff's Story

Hugh and Bea Rienhoff (credit: Leah Fasten)
Genetics is the study of genes, DNA, and variation; heredity is the passing of inherited traits from parents to offspring. Families with one member, typically a child, who has a collection of unusual symptoms that don’t fit any clinical diagnosis may in fact have a genetic disease – but one that arose spontaneously in the child, rather than having been inherited from carrier parents.

Exome sequencing is helping to solve these genetics-but-not-heredity mysteries. The story of one little girl and her father’s efforts to find her mutant gene, and how the tale wove in and out and now back into my human genetics textbook, illustrates the evolution of personalized genomic medicine.

THE BEA PROJECT
When Hugh Rienhoff first saw his daughter Bea, born in December 2003, he knew something was wrong. Her long feet, clenched fingers, poor muscle tone, widely-spaced hazel eyes, and a facial birthmark might have been just peculiarities to anyone who wasn’t also a physician and a geneticist. Read More 
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Ricki’s Rant: Genome Sequence, NOT Genetic Code

Strawberries can use a gene from peanuts to withstand frost because the genetic code is universal.
Humans do not have their own genetic code, and certainly each of us does not have his or her own. The idea of our utter uniqueness might be attractive, but genetics just doesn’t work that way. And it’s a good thing.

The genetic code is the correspondence between a unit of DNA  Read More 
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Non-PC Genetics Lingo

We are all people of color, except the Invisible Man and Woman.
I struggle to stay politically correct when updating my human genetics textbook. “Hemophiliac” became “person with hemophilia” and “victim” vanished several editions ago. In the current incarnation, “mentally retarded” became “intellectually disabled” after colleagues warned that  Read More 
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23andMe's Exome Sequencing and the Tenth Edition of My Textbook

It’s been a strange week. The tenth edition of my human genetics textbook was published, just as 23andMe announced that they now offer whole exome sequencing, for $999. Read More 
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