history of science


September 2018 with Nathan and Laura: Studying the Same Genes and the Matt Fender Story

And here we were thinking it was a slow month!

We have two big stories today: first this philosophy of biology question about whether it’s a bad thing that we’ve been stuck circling the wagons ‘round the same ole genes. Is it just an economic question? Or is it that these are the most active genes, and so we need a meritocracy, as Nathan puts forth?

As if on time to answer this question, there’s a new project out this month to synthetically engineer 4,000 copies of a very studied gene, BRCA, which has Laura and other genetic counselors excited. As she explains, it will help with the problem of reducing variants of unknown significance.

And second, we discuss the fallout of Laura’s tour de force article in the New York Times and follow-up Beagle podcast about a young web developer, Matt Fender, who had a real scare with his 23andMe data. Theral says the story sounded an alarm at just the moment many of the field's KOLs are becoming relaxed about regulating DTC tests. Nathan says the story shows that the system is working.

Detective Stories from the Genomic War Room with Ramesh Hariharan

A book like this only comes around once in a while—one never knows from which corner. This time it was written by the CTO of a next gen sequencing data analytics company.

“Every one of these cases was intense. It was just so fascinating that I had to put it down in a book and tell the story. There’s so much in biology that boggles your mind and makes you wonder.”

So says Ramesh Hariharan, author of Genomic Quirks: The Search for Spelling Errors. His new book tells the stories of nine cases he worked on first hand analyzing patient genomes. From the mystery of the author’s own color blindness to a rare childhood disease that took a couple’s two children and left them wondering whether to have another to a daunting instance of abdominal cancer, Ramesh reveals the interplay of three modern industries working at the their pinnacle: molecular biology, clinical medicine, and data analytics.

What makes the book so special is being with a passionate technologist as he discovers his own gift as a writer, to be there when he realizes he can bring the rest of us along on a journey filled with many fantastical twists and turns, dead ends and eureka moments, uncovering the long kept secrets of the human genome. This is different from the product of journalists who get it all second hand. Ramesh's book is personal, a labor of love, rare.

Does it all make him bullish on genomic medicine for the future? He says we’re running out of ideas.

Democracy and Science Have Tea at the White House

The wheels on his navy blue Toyota Prius could be heard squeeling as Science wound down the parking structure in Bethesda.  Yes, it's true, Science's parking spot involved two stories and some undwinding to get out on the open road.  Today Mr. Science was headed to the White House for tea with Ms. Democracy.

As it happens, on this particular day, our Mr. Science is a religious man.  One doesn't know how it happened.  It just happened.

Homo Sapiens (D)Evolves into Homo Medicus

A well known science and medical author, Wades Tudeep, has proposed an upgrade to a famous Shakespeare quote from Hamlet:

“What a piece of work is a man! How noble in reason, how infinite in faculty! In form and moving how express and admirable!  In action how like an Angel!  In apprehension how like a god! . . . [proposed addition] . . . In DNA, what an  encyclopedia of disease!"

Five Reasons Why Scientists Should Not March . . . And Five Reasons Why They Might Just Should

Gene and Tonic

1.  There’s no good and elegant way for a scientist to march.  For one thing, there are no slide projectors.  In fact, there are really no tools for marching, except the bull horn.  And that takes someone who wants to talk loudly.   Duh!  Scientists don’t actually do things.  They get tools to do them.  

2.  Scientists marching in America would look too French.  Guillotines are for frogs and mice, not people.  

Five Reasons France Has Become the Number One Anti-Vaccination Nation

A recent study shows that the French are, to an alarming degree, against vaccinating.  Huh?  The ultra secular and increasingly atheist, nuclear power dominated, science loving, Voltaire producing French?  It doesn’t make any sense.  According to this study a whopping 41% of the French are holding out against vaccines.  Compare that to just 14% in the U.S.  Which nations are best about their vaccinations?  Those in Southeast Asia and Africa.  They still remember what it’s like to not like pol

Siddharta Mukherjee's Writing Career Just Got Dealt a Sucker Punch

Siddharha Mukherjee won the 2011 Pulitzer Prize in non-fiction for his book, The Emporer of All Maladies.  The book has received widespread acclaim among lay audience, physicians, and scientists alike.  Last year the book was turned into a special PBS series.  But, according to a slew of scientists, we should all be skeptical of his next book scheduled to hit book shelves this month, The Gene, An Intimate History.

Gene and Tonic: The ACA Turns Five, Ten Reasons to Have Your Genome Sequenced, and Humbled by the Ancients

Actually there was no news this week.  It turns out the whole industry took the week off to watch the stunning Ken Burns documentary on cancer.  

No, that’s not true.  We did find some news.  

How about this?  The Affordable Care Act turned five this past week.  Happy Birthday, ObamaCare!  So we thought we’d share some important numbers about the ACA:

11.7 million:   the number of Americans who have signed up for 2015 coverage.

46%:   the increase in enrollment from 2014 to 2015.

0.3%:  the increase in new patient/doctor visits.  (Remember, one of the criticisms was that there weren’t enough doctors to pull this off.)

5:  the number of Supreme Court Justices it takes to screw it up for the newly insured in the current case against the ACA.

4:  this is the number of words that the case is all about.

828:  This is the number of pages that Congress used to provide a clear context as to what those four words mean.

A decision on the bill’s fate is expected later this year.

Also later this year, on November 21, it's Know Your Genome Day.  It was announced this week that on that day anyone can go to Dallas, Texas, have their whole genome sequenced, and receive a clinical interpretation of it. The event is hosted by Genome Magazine--this is a new magazine out for patients and consumers--and by the sequencing company, Illumina.  But the event sponsors haven’t made it clear yet just why you should have your whole genome sequenced.

So we came up with ten reasons of our own why you should have your genome sequenced:

1.  So you can find out that you married your first cousin.

2.  To prove to your business partner that you’re really only 3% Neanderthal.

3.  To find out there’s a strong possibility that you might die at some point in the future. 

4.  So you'll have definitive proof that your parents really are to blame.

5.  To get Angelina Jolie to leave you alone.

6.  To prove that you really are an alien.

7.  So that the sperm you donated in college can come back and haunt you in the form of your own kid.

8.  To be the star of that dinner party next month.

9.  To make Craig Venter and Francis Collins even more full of themselves.

10.  To ensure the good folks in our industry a job.

Do you have your own reasons?  Please share them with us in the comment section below or on Twitter.

Finally, some humbling news for today’s biomedical researchers.  CBS News reported on a thousand year old remedy for eye infections that works stunningly well.  The remedy was found in a 10th Century medical volume called Bald’s Leechbook.  It’s one of the earliest known medical textbooks.   This is a true story.  The remedy calls for garlic and onion, wine, and bile from a cow’s stomach--wait a minute isn’t this what I have for dinner once a week?  Researchers mixed the recipe together, let it sit for nine days and tried it against the antibiotic resistant MRSA bacteria.  The ancient remedy wiped out the MRSA, killing 99.9% of the bacterial cells.

The “ancient-biotics” team, as they’re calling themselves, plan to continue researching old texts for cures.  

Have a great weekend, everyone.

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