The Genetic Nightmare of Diabetes

After 10 years of genomic studies, our understanding of the genetic architecture of diabetes is… still a mess. Or, if you prefer, a nightmare. That’s the message of the most extensive Type 2 Diabetes GWAS to date. Looking for rare genetic variants linked with diabetes, researchers performed whole-genome or exome sequencing on 15,000 people… and came up with nothing new.

This is an important negative result, in that it advances our knowledge of the genetic architecture of diabetes – odds are that many common genetic variants, each with individual small effects, contribute to one’s total genetic risk for the disease. It also illustrates just how hard it will be to realize the goals of personalized medicine. So let’s avoid the hype when we talk about how genomics is going to revolutionize medicine.

I explain the study and its implications in my piece this week at Pacific Standard.  Go read it to learn more about the challenges ahead that face personalized medicine.

Off-the-shelf drugs against Zika

As with the ebola outbreak on 2014, we’re facing the Zika pandemic without any drugs or vaccines.  Several rapidly developed Zika vaccines are now entering clinical trial, but we urgently need effective drugs that we can give to infected pregnant women, to protect their unborn children from the awful birth defects that the virus can cause.

Drug development takes a long time. However, one group at the University of Texas Galveston tried a short-cut: test drugs that are already approved by the FDA to see if any can prevent Zika infections. They tested 700 drugs in vitro (i.e., i cells in a petri dish) and found 20 that showed some efficacy in different cell types. Some of these are safe to give to pregnant women, and at least one, ivernectin is a cheap anti-parasite drug already taken by millions of people world-wide.

Obviously whether any of these drugs are effective in actual people is an open question. But the beauty of this is that the safety of these drugs has already been tested. We can start enrolling people in clinical trials to test their efficacy now.

I wrote more about this story over at Pacific Standard – go give it a read.

Lise Meitner

I’m taking a writing class at the moment, and one of the assignments was to write a profile about Lise Meitner:

Lise Meitner with Otto Hahn
Lise Meitner with Otto Hahn

On Christmas Eve, 1938, sitting on a tree trunk in the snow in Sweden, Lise Meitner and her nephew Otto Frisch figured out the mechanism of nuclear fission. They had gone for a walk during a family holiday to discuss a letter Meitner had received from her colleague Otto Hahn. He asked for her opinion on a strange scientific phenomenon he had discovered.

Until a few months earlier, Meitner and Hahn had worked closely together at the Kaiser Wilhelm Institute (KWI) in Berlin, where they studied the effect of bombarding uranium atoms with neutrons.

Meitner had moved to Berlin shortly after completing her doctorate degree in her birth city of Vienna. She was one of the first women to reach this level of academia, and encountered some archaic attitudes and ideas: in Berlin, she worked unsalaried for a few years, and was occasionally expected to entertain the wives of visiting physicists while the men talked about science.

During the three decades she worked in Berlin, Meitner made Germany her home, but when the Second World War edged closer, it was no longer safe for Jewish people in Germany. With her piercing brown eyes, dark frizzy hair and pronounced nose, Meitner’s heritage was unmistakable. She fled to Sweden in July 1938, with help from an international group of friends and colleagues from the physics community.

Now, six months later, Hahn’s curious letter had reached her. He described how, after another round of shooting neutrons at uranium, he discovered barium in the reaction mixture. Where had it come from? Pondering this question with Frisch during their winter walk, Meitner realised that the neutron in Hahn’s experiment must have split the uranium atom in half. This would leave two smaller atoms in its place, which would continue to produce even smaller atoms, and generate large amounts of energy.

The discovery came at a dangerous time: Could the Nazis use this technology to create a weapon? The USA quickly launched the Manhattan Project to ensure they were the first to build an atomic bomb. Meitner was invited to join, but she refused. She didn’t want to be part of such a violent application of her discovery – not even to defeat the enemy who had chased her out of Germany.

After the war, Meitner spent several months in the USA as part of a visiting professorship. She was named Woman of the Year there, in 1946, and was interviewed by Eleanor Roosevelt for NBC radio.  Roosevelt told her: “We are proud of your contributions as a woman in science”.

Meitner continued to inspire women in science throughout her retirement years. A photo taken at Bryn Mawr, in 1959, shows her sitting casually on the steps of a university building. Her frizzy hair now grey, but with the same dark piercing eyes, she is surrounded by students in long floral skirts who have come to hear her fascinating stories.

Maybe she told them about the time she went for a walk with her nephew, through the snow in a cold Swedish winter. Or maybe they asked her about that other winter in Sweden, when in December 1945, Hahn – and Hahn alone – received the Nobel Prize in Chemistry at the award ceremony in Stockholm.

It’s an oversight that’s still often mentioned, especially in the context of continuing challenges to retain women at the top level of science.  But even without a Nobel Prize, Meitner was well-respected, and happy to sit down for a chat about her work: in the snow with her nephew, on the radio with a former president’s wife, or casually outside on the steps with admiring students.

Image: Meitner and Hahn. Public domain, via Wikimedia. Other image described in the text was not free to use, so click that text for a link.

Art of Science: Anatomical Art, in So Many Words

 

beatPoetryMedium
Beat Poetry, Digital Print, Stephen Gaeta

When cardiologist Stephen Gaeta was finishing his PhD on cardiac arrhythmias, he decided to do something more creative than just hang his diploma on the wall.  He used the words of his dissertation as create an image of an anatomical heart, which he signed with a segment of his own ekg. He later redesigned the heart using an 1809 monograph on cardiology and renamed it Beat Poetry. Since then, he has continued to create images from classic scientific texts, including an eyeball, a transgenic mouse and a set of lungs (below). The lungs feature the text of the 1628 treatise Exercitatio Anatomica de Motu Cordis et Sanguinis in Animalibus (An Anatomical Exercise on the Motion of the Heart and Blood in Living Beings) by William Harvey. You can read more about his work and buy prints at Street Anatomy.

airwayMedium
Airway, Digital Print, Stephen Gaeta

Science for the People: Contraception

sftp-square-fistonly-whitebgThis week, Science for the People is taking a closer look at our current – and potential future – contraceptive methods. We’ll speak with Beth Sundstrom and Andrea DeMaria, Co-Directors of the Women’s Health Research Team at the College of Charleston, about why the pill is still our go-to birth control choice when we have long acting reversible contraception methods like the IUD and the implant available for women. And we’ll talk with Elaine Lissner, Executive Director of the Parsemus Foundation, about their continuing work to bring Vasalgel, a long acting, reversible, non-hormonal male contraceptive, to market.

Science for the People is now part of the Skepchick Network.

Don’t forget to support the Science for the People on Patreon to keep the sciencey goodness flowing toward your ear holes.

*Josh provides research help to Science for the People and is, therefore, completely biased.