Showing posts with label genetic research. Show all posts
Showing posts with label genetic research. Show all posts

Monday, May 23, 2016

GENETICS - "The Gene"

"Our long and winding road to understanding 'The Gene'" PBS NewsHour 5/19/2016

Excerpt

SUMMARY:  The field of genetics has seen exponential growth in recent years, and today may be on the verge of further breakthroughs that will radically change the way we function as a species.  But to understand genetics now, one must first understand its complex past dating back to the 19th century, a past chronicled in Dr. Siddhartha Mukherjee's new book “The Gene.” Mukherjee joins Judy Woodruff for more.

JUDY WOODRUFF (NewsHour):  It seems as if there are important breakthroughs each year in the field of genetics and medicine.  In many ways, we indeed could be on the verge of historical changes in how we use DNA and how we edit our biological code.

But the moment can be deceptive.  The history of genetics is long and complicated, dating back to the mid-19th century.  It's full of exciting discoveries, endless mysteries and, even nefarious intent.

That's the ambitious scope of a new book, “The Gene: An Intimate History.”  Its author is Dr. Siddhartha Mukherjee, a cancer physician and an assistant professor of medicine at Columbia University.  He's the author of the Pulitzer Prize-winning “The Emperor of All Maladies: A Biography of Cancer.”

Dr. Siddhartha Mukherjee, welcome to the “NewsHour” again.

DR. SIDDHARTHA MUKHERJEE, Author, “The Gene:  An Intimate History”: Pleasure to be here.  Thank you.

JUDY WOODRUFF:  So, an intimate history within what?  Just a short time after you have come out with this award-winning book on cancer, you tackle an arguably more complicated subject, the gene, and there is a personal connection.  Explain that.

DR. SIDDHARTHA MUKHERJEE:  Well, this book took actually a long time to write.  It was — it took six years to write this book.

And the book gets intimate right from the first page.  The story opens really with an exploration that was in the back of my mind where I — as I was growing up.  It was about my family's mental illness, two uncles consumed by schizophrenia and bipolar disease, and then, one generation later, another, so, on the same side of the family, also diagnosed with schizophrenia and institutionalized, and the growing realization in my mind as a child that this wasn't — there was some heredity lurking, that genes were lurking behind mental illness, and that coming to fullness as I started to study medicine and realize that there was a genetic core to all of this.

JUDY WOODRUFF:  You sense, in reading this book, that there is an urgency to this, that you felt it was important to get this done now.  Why?

DR. SIDDHARTHA MUKHERJEE:  It's important to get this done now because we are at the — on the verge of unveiling or discovering and inventing astonishing new technologies that allow us to read and write human genomes.

And let me explain what I mean.  By read, I mean we can now begin to scan the human genome, your genome, mine, all the genes that you and I have, and ask questions about what it predicts for us in the future.

The technology is far from accurate, but, for instance, the risk of breast cancer may be present in a variation in your genome.  And by write, I mean something even more strange, which is that, lately — and this has been widely covered, but, lately, we have been able to — scientists have been able to go into the human genome and make intentional alterations, erase genes, change genes, change their content, et cetera.

That's a surprising thing to do and portends a very, very complex landscape for the future.

Monday, May 16, 2016

GENETIC RESEARCH - Unlocking Mutations

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

Excerpt

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?