
![]() 12th edition of my human genetics textbook
The Forever Fix: Gene Therapy and the Boy Who Saved It (324.0KB)
flyer / handout ![]() Glenn Nichols, surrounded by his hospice team. The author is in yellow.
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Genetic LinkageBlack Pee Disease Offers New View of Arthritic JointsSeptember 13, 2014 ![]() The urine of a person with alkaptonuria turns dark upon standing.
When a Disease is Genetic but not Inherited: Bea Rienhoff's StoryJuly 4, 2013 ![]() Hugh and Bea Rienhoff (credit: Leah Fasten)
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. (more…) Ricki’s Rant: Genome Sequence, NOT Genetic CodeJanuary 11, 2012 ![]() Strawberries can use a gene from peanuts to withstand frost because the genetic code is universal.
The genetic code is the correspondence between a unit of DNA (more…) Non-PC Genetics LingoJanuary 10, 2012 ![]() We are all people of color, except the Invisible Man and Woman.
23andMe's Exome Sequencing and the Tenth Edition of My TextbookOctober 1, 2011
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. (more…)
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