— John F Kennedy - Moon Speech at Rice Stadium, 1962
On the heels of this post detailing the adorable story of the hedgehog gene, here’s some more of my favorite silly gene names, and the mutant reasons their redonkulous names:
- tinman - Mutants do not develop a heart (Fruit fly)
- dreadlocks - Causes photoreceptors to sprout
- dreadlock-like axon projections (Fruit fly)
- tribbles - Causes out of control cell division (Fruit fly)
- maggie - Larvae never mature (Fruit fly)
- hamlet - Affects a type of sensory cell called “IIB” (Fruit fly)
- dunce - Affects learning and memory (Fruit fly)
- smaug - Represses Nanos, which means “dwarf” (Fruit fly)
- groucho - Excessive bristles on the face (Fruit fly)
- ken and barbie - Lack of external genitalia (Fruit fly)
- indy - Stands for “I’m not dead yet”, a la Monty Python (Fruit fly)
- lush and cheap date - Affect alcohol metabolism (Fruit fly)
- RING - A protein segment that comes from “really interesting new gene”
- tigger and pogo - Two families of transposable elements, or pieces of DNA that can jump around genomes (Multiple species)
- kryptonite and superman - Kryptonite represses superman, which causes extra stamens to form in flowers (Arabadopsis)
- Yuri gagarin - Protein involved in sensing gravity (Fruit fly)
- callipyge - Leads to formation of large, round buttocks in sheep (from Greek for “beautiful buttocks”)
- chablis, frascati, merlot, retsina, riesling, cabernet, grenache, chardonnay, chianti, pinotage, sauternes, weissherbst, zinfandel - A set of genes found to inhibit blood cell formation. Get it? Red and white?! (Zebrafish)
I think these would make an excellent art project, all you artistically-and-scientifically inclined people out there. Any of your favorites that I missed?
I agree. These would be perfect art ideas.
— Paracelsus (via medicaljourney)
To generations of medical students, from mine to the present, the name Frank Netter has a magical connotation. He was the doctor who drew the remarkably lifelike images that we all used to learn anatomy. They were so lifelike, we joked, that we trusted them more than what we actually saw in our cadavers or on CAT scans.
Who was Frank Netter and how did he come to be the world’s most famous medical illustrator? Fortunately, his daughter Francine has written a forthcoming biography of her father, entitled Medicine’s Michaelangelo.
As we learn, if Netter’s mother had had her way, Netter would have retired his paintbrush in favor of a stethoscope. It is because he did not, though, that we have timeless illustrations like this.Copyright Elsevier Inc. All rights reserved.
Netter was born in Manhattan in 1906 and showed aptitude for art at an early age. During high school, he studied at the prestigious National Academy of Design, where he drew nude figures. At New York’s City College, Netter drew portraits and cartoons for the school’s yearbook and spent the summers as an artist and set designer at a hotel in the Catskills.
But despite his remarkable talent, he had promised his mother he would go to medical school and, in 1927, he enrolled at New York University Medical College. While his fellow classmates spent their spare time studying for examinations, Netter drew haunting images of Bellevue Hospital, where he would eventually complete his internship and, in a harbinger of things to come, a picture entitled “Healing Hands,” in which a doctor applied a bandage to a patient’s fingers.“I do not know of anybody in the past several hundred years who has done anything like this.”
Netter did practice medicine briefly but, as Francine writes, “the demand for Frank’s sable brush grew faster than the demand for his scalpel.” His portraits, drawings of body parts and, at the behest of pharmaceutical companies, images of new drugs and how they worked were simply too vivid and unique to ignore. In 1934, Netter saw his last patient.
It would be Netter’s relationship with drug manufacturers that propelled forth his career as a medical artist. In 1937, the Ciba Company asked him to prepare an illustrated flyer for its version of digitalis, a heart drug. A remarkably long marriage was born. Over the next five decades, Netter worked with the company, later known as Ciba-Geigy, to produce the Ciba Collection of Medical Illustrations and the Clinical Symposia, beautifully illustrated books that depicted both normal anatomy as well as the pathology associated with specific diseases. The over 4,000 illustrations made by Netter during his career also depicted patients (drawn from models) suffering from conditions like bronchial asthma, angina and major depression. One picture showed a patient with end-stage liver disease on water restriction desperately drinking from a toilet. When Netter required surgery for an aortic aneurysm near the end of his life, he used the occasion to make diagrams of the operation he needed. Netter’s work was voluminous, covering a vast array of topics and diseases. Ciba distributed his illustrations far and wide to medical students and physicians—usually for free—as a marketing tool.
Words do not really do justice to the exquisite nature of Netter’s diagrams. The Saturday Evening Post termed him the “Michelangelo of Medicine” and featured his work alongside that of Norman Rockwell. A reviewer of Netter’s Atlas of Human Anatomy, which compiled hundreds of Netter’s best images, equated Netter’s influence on anatomy to that of Leonardo Da Vinci.Copyright Elsevier Inc. All rights reserved.
Medicine’s Michelangelo is less of a page turner than a labor of love. If many famous artists are temperamental, Netter was not. Indeed, he seems to have been humble to a fault. In addition, the book contains lots of names of Netter’s various coworkers that will not be of interest to the average reader.
Nor did Francine Netter situate her father’s career within other relevant developments in the history of medicine. For example, it would have been interesting to explore Ciba’s decision to distribute Netter’s work for free to physicians in light of all of the negative commentary about the marketing techniques of modern pharmaceutical companies. And I would have loved to have heard what Frank Netter thought about the revelations that the famous German atlas of human anatomy by Eduard Pernkopf contained images of Jews killed during the Nazi regime.
But Francine Netter has done an admirable job of documenting her father’s remarkable career. As one of Netter’s many awestruck colleagues wrote, “I do not know of anybody in the past several hundred years who has done anything like this.”
A neuroscientist reflects on his experience of studying the circuits that control neural activity while his own brain began slowly failing him.
Roughly a year ago, I found myself at an elegant dinner party filled with celebrities and the very wealthy. I am a young professor at a major research university, and my wife and I were invited to mingle and chat with donors to the institution. To any outside observer, my career was ascendant. Having worked intensely and passionately at science for my entire adult life, I had secured my dream job directing an independent neuroscience research laboratory.
I was talking to a businessman who had family members affected by a serious medical condition. He turned to me and said: “You’re a neuroscientist. What do you know about Parkinson’s disease?”
My gaze darted to catch the eyes of my wife, but she was involved in another conversation. I was on my own, and I paused to gather my thoughts before responding. Because I had a secret.
It was a secret that I hadn’t yet told any of my colleagues: I have Parkinson’s.
I am still at the beginning of my fascinating, frightening and ultimately life-affirming journey as a brain scientist with a disabling disease of the brain. Already it has given me a new perspective on my work, it has made me appreciate life and it has allowed me to see myself as someone who can make a difference in ways that I never expected. But it took a bit of time to get here.The first signs
I remember the first time I noticed that something was wrong. Four years ago, I was filling out a mountain of order forms for new lab equipment. After a few pages, my hand became a quaking lump of flesh and bone, locked uselessly in a tense rigor. A few days later, I noticed my walk was changing: rather than swinging my arm at my side, I held it in front of me rigidly, even grabbing the bottom edge of my shirt. I also had an occasional twitch in the last two fingers of my hand.
I was 36 years old and it was the most terrifying time of my life, even without any of these mysterious symptoms. In the span of six months, I found myself in a job that I had spent 20 years preparing for, I became a father for the second time, I moved across the country to a town where we knew no one, and I was working alone in an empty lab wondering who left me in charge. I study the way that neuromodulatory chemicals such as dopamine affect neural activity and behaviour. And now, my own brain chemistry was rebelling against me.
I considered many possibilities. A brain tumour? Dystonia? Motor neurone disease? Huntington’s disease? Multiple sclerosis? Was I just stressed out?
My diagnosis came from a young neurology fellow at one of the world’s leading centres for the study of movement disorders. He felt more like a peer than an authority figure. He, too, spent a lot of time in the lab doing basic research and published papers in some of the same journals as me; we could have just as easily run into each other at a scientific meeting. As a result, the experience of my diagnosis was oddly collegial.
Right away, I wondered how long I could get away without telling my colleagues. I worried that I would be less likely to get the grants I needed to run my lab if the reviewers were not confident about investing in my future. I wondered whether students and postdocs would be afraid to join my research group. And, perhaps most importantly, how long I would be able to do experiments — the thing that I most love. Stiffness, shaking, fatigue, jerky movements, falls, drooling, laboured speech and the expressionless Parkinsonian mask. These could all be a part of my future.Mind matters
I was diagnosed with Parkinson’s more than two years ago. From that day, I have had a different relationship with the brain — my scientific focus for the past 20 years. I now know what it is like to have a brain disorder and can explore its manifestations first hand. Take the very peculiar symptom known as ‘freezing’. Occasionally, when I attempt to lift my hand it well … won’t. Notice that I didn’t say can’t. There is nothing wrong with my arm. It is still strong and capable of moving, but I have to put effort, even focus, into getting it to move — frequently to such a degree that I have to pause whatever else my brain is doing (including talking or thinking). Sometimes, when no one else is around, I use my other hand to move it.
As a neuroscientist, it is simultaneously fascinating and terrifying to be directly confronted with the intersection of the neurophysiological and philosophical constructs of ‘will’. The way my mind and body do battle forces me to reconsider the homunculus, a typically pejorative (among neuroscientists) caricature of a little man pulling levers inside our heads, reading the input and dispatching the output. Virtually all that we know about how the brain is organized belies this image, and yet there is a dualism to my daily experience.
Parkinson’s, particularly in young people, is primarily a disorder of motor control, not of cognition. Still, my experience, however limited, leads me to speculate about what it is like to be trapped by a brain gone rogue. When one begins to lose the ability to interact with the world, and when one’s faculties for clear perception and cognition are stripped away, what remains of the conscious self?
This brings me to one of the main reasons that I have kept my disease secret: the stigma of ‘mental illness’. Because most people do not understand Parkinson’s, it may be confused with cognitive disorders such as schizophrenia and Alzheimer’s disease. I feel as sharp and productive as ever, but I wasn’t sure that others would have faith in me at a time when my career is so fragile. So nearly every moment of my life became a performance, in which I tried to hide my symptoms. At work, at the grocery store, in my front yard, even in front of my kids — I am always keenly aware of my movements. And nowhere more so than at scientific conferences, such as at meetings of the Society for Neuroscience (SfN). You may not notice where my hands are, but I do. Often, I am sitting on them.
Does Parkinson’s affect the way I do science? It does affect the day-to-day mechanics of experiments for me. The techniques used in my lab require considerable motor skill at times. I have had to modify how I do some things, including taking more time, compensating with my good hand or using a different grip on instruments. Still, it is pretty remarkable how capable I remain at the bench. The lesson in this for me is that ‘lab hands’ are more about experience, attention to detail and adaptation of methods than they are about raw dexterity. And the low-to-moderate doses of drugs that I take really help, as do sleep and exercise. By all indications, I will be able to continue research for many years, perhaps even indefinitely.
There is also the question of how this diagnosis affects my scientific direction. I am sometimes asked whether I will wholly or partly switch to studying Parkinson’s disease. I suppose I might if the right project came along, but in general I remain focused on the questions that I have already set out for myself. I am also sometimes asked whether my diagnosis makes me impatient with the pace of discovery of cures. Here my answer is very clear. The dual perspectives of my condition and my position as an active researcher actually reinforce my belief in the importance of discovery science. I am keenly aware that those cures are possible only in the wake of decades of basic research. Above all, my diagnosis makes me want to do the best and most exciting science I can, because the privilege could disappear for any of us in the blink of an eye.To tell or not to tell
Back at the dinner party, all eyes were on me waiting to hear my thoughts on Parkinson’s. I wanted to tell my colleagues what I was going through. I wanted to look at our donor and say: “Funny you should ask that. Not only am I a neuroscientist, but I also have Parkinson’s disease.” I wanted to launch into an eloquent monologue that put a personal face on the science of neurodegenerative disease. I wanted to conclude by saying, “And that is why basic brain research is so important.”
But I didn’t.
Instead, I dispassionately described the pathology and characteristic symptoms of Parkinson’s. It was an intellectually engaging exchange, but it wasn’t the conversation it could have been. This is one of the main reasons I decided to stop hiding.
Earlier this year, I told my department chair. Over the next few days, I told the administration, my lab and many of my colleagues. It took a lot out of me, but it ended up being one of the best decisions I ever made. Everyone at work was so supportive — I felt silly for having spent four years, since the onset of my symptoms, worrying about how they would react. In the subsequent months, it has become a non-issue for me in how I interact at work. Everyone treats me like any other colleague, and it is such a relief not to worry about who knows anymore. It is still uncommon for me to tell someone new, but I do not do anything to hide my condition, just enough to not call attention to it. For anyone reading this who is going through something similar, I am here to tell you that life is too short to run from who you are. Your colleagues might surprise you, and you can still be a great scientist despite a disability.
So why am I writing this piece anonymously? Because I don’t want to be known to the scientific community as ‘Parkinson’s guy’ before I am known as a scientist. That said, I’m not hiding any more, so if you care you can dig enough to find out who I am. I’m okay with that.
— Oliver Sacks (via compoundfractur)
Using the triplet code (where every three DNA nucleotides codes for one amino acid), Stuart Mitchell has converted 1 first human chromosome into music by assigning each amino acid a musical note. And what he has achieved is a hauntingly beautiful song that represents everything that we are musically.
It’s quite long but it’s an amazing thing to listen to in the background if you have time!
"One should not pursue goals that are easily achieved. One must develop an instinct for what one can just barely achieve through one’s greatest efforts." —Albert Einstein
While Einstein was not a neuroscientist, he sure knew what he was talking about in regards to the human capacity to achieve. He knew intuitively what we can now show with data—what it takes to function at your cognitive best. In essence: What doesn’t kill you makes you smarter.
— Alexander of Tralles, 600 CE (via compoundfractur)
Marvel’s looking for the next Jane Foster. The character in Thor and Thor: The Dark World is an astrophysicist. Natalie Portman enjoyed getting to play a scientist, and she believes it’s a smart move to encourage girls to take on those kind of roles. Enter the Ultimate Mentor Adventure. The program will put young women interested in STEM fields (science technology, engineering, and mathematics) in the real world with successful women in those fields. They’ll get to ask questions and receive advice from women who have already blazed the trail. I think it’s one of the coolest things Marvel has done.
To enter the program, you must be 14 years or older and enrolled in grades 9-12. Once you complete an application form, you find a woman working in a STEM field in your area. Marvel has linked helpful resources to help you find someone. Finally, you create a video about yourself and submit it. The best videos will win a grand trip prize to Los Angeles to see the movie, participate in a documentary short, and to go behind the scenes of places like Disneyland.
Submissions are due by October 20 and even though winning is awesome, I think the best part will be finding a scientist to interview and receive mentorship from.
Learn more on contest rules and how to enter here.
— Tertius Lydgate - George Eliot’s Middlemarch
— Literature and Medicine in Nineteenth-Century Britain - Janice McLarren Caldwell
Grizzly Bear - Gun Shy
Video submitted by ArtsyYak
- Adventure awaits
Off to Scotland tmw as I’m working medical stuff at the Commonwealth games in Glasgow. Should be amazing!
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