Monday, May 16, 2016

GENETIC RESEARCH - Unlocking Mutations

"How genetic sequencing can unlock secret DNA mutations — and save lives" PBS NewsHour 5/13/2016


SUMMARY:  Every year, thousands of young people who seemed otherwise healthy die suddenly.  The reason sometimes is long-rooted, secret gene mutations passed down through the generations.  Doctors at the Scripps Translational Science Institute are using gene sequencing and “molecular autopsies” to uncover these hidden mutations and allow patients to take preventative action.  David Wagner of KPBS reports.

DAVID WAGNER (KBPS San Diego):  Dardie Robinson leads a typical life in Portland, Oregon.  She spends her days working as a paralegal and catching up with all the kids she has raised.

But unknown to her, she was carrying a genetic mutation that left her and family members vulnerable to sudden heart failure.  A year-and-a-half ago, she received an unexpected call.  t was about her son, Daniel.

DARDIE ROBINSON, Mother:  I got a call out of the blue from his girlfriend.  And — sorry — she said that paramedics were there working on Daniel, that she had found him, that he was blue and unresponsive.

And I told her, I said, “Tell him his momma loves him.”

And she said, “Well, I'm sure he can't hear you.”

I said, “Tell him anyway.”

And so she did.

DAVID WAGNER:  In tears, she left the office and got in her car.

DARDIE ROBINSON:  And on the way home, I got the call that there was nothing they could do, and that he was gone.

DAVID WAGNER:  Daniel was 29 and otherwise healthy.  No one knew why he had died so suddenly.

DARDIE ROBINSON:  That was, to me, part of the — really the worst part, is because the word to us initially was, they thought that he must have committed suicide, he must have taken something.  And I kept saying, that doesn't make sense.

DAVID WAGNER:  An autopsy pointed to problems with his heart.  And while she was relieved suicide was ruled out, the autopsy left her unsettled.

If this could kill Daniel at 29, could it strike her other biological children?

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