dr. francis collins


Origami Folds In Genes Make Cells What They Are

by Michael Keller

New research has shed light on how the same DNA blueprint can lead to structures as different as neurons and red blood cells.

Scientists from the Baylor College of Medicine and Rice and Harvard universities have created a highly detailed 3-D map of the human genome by analyzing billions of DNA fragments. Their work uncovers how the 3 billion DNA units that make up our genetic code contort, link and interact to create the genome’s physical structure.

This folded origami-like architecture shrinks down our DNA, which would stretch 6.5 feet long into a straight line, to fit inside a nucleus that measures less than 0.00024 of an inch across. It turns out that the folding itself determines whether certain genes are turned on or off, which leads to the production of different proteins in different types of cells.

“More and more, we’re realizing that folding is regulation,” said Suhas Rao, a researcher at Baylor’s Center for Genome Architecture who contributed to the work. “When you see genes turn on or off, what lies behind that is a change in folding. It’s a different way of thinking about how cells work.” (see video below.)

Keep reading

Possible Cure for Progeria: The Rapidly Aging Syndrome

A rare genetic disease called Hutchinson-Gilford progeria syndrome effects 200-250 children worldwide and causes children to develop the same joint and circulation ailments as the elderly.  According to CNN, Science Translational Medicine published a study about possible treatment for this disease last month. 

Dr. Francis Collins, director of the National Institute of Health and one of the authors of this study, began his research 30 years ago upon meeting a young girl named Meg, who was affected by progeria.  Along with seven other authors, Dr. Collins began a study that found an immune suppressing drug that could possibly treat progeria.  Until now, there have been no approved drugs or treatment to slow the course of this disease. 

This rare genetic condition causes infants to lose their hair while they’re learning to talk. Their minds develop normally, but their bodies age rapidly.  As toddlers, their skin starts to sag and most of them die of age-related causes, such as heart disease, heart attack or stroke before they’re old enough to enter high school. 

The cause for this is a genetic defect in a child that accumulates too much of a toxic protein called progerin and the cells can’t get rid of it. A small amount of progerin is present in healthy people’s cells as they begin to age. The difference is that healthy cells can get rid of the damaged molecules and unneeded proteins. The drug that Dr. Collins and his colleagues discovered appeared to activate a cellular system that removes the waste.

Dr. Francis Collins, "The Colbert Report" (10 May 2012)

Okay. So people are fat.

How is that a fucking problem?

Listen up. I have been fat my whole life. Even at military school, when I was at my most physically fit which I will equate with being able to run an 8 minute mile, I was still fat. And guess what? I felt good. In fact, I still feel good. And sure there are moments when I feel a little self-conscious, but those moments are often few and far between.

On the whole, I’m okay with being fat.

Now, it’s good to know that Stephen Colbert sees how messed up our conception of body image is. Considering his sense of humor, it might be hard for some people to understand he’s joking or disagreeing with something; the unfortunate side effect of being famous for playing a persona. However, Dr. Francis Collins made some observations on last night’s episode of The Colbert Report that should be cleared up.

First off, being fat is not a sign of being unhealthy. You can still be healthy and fat. Furthermore, health also needs to be redefined as not just the physical relationship, but the mental relationship as well. If someone is “in shape” - which is ludicrous because that phrase in and of itself promotes the idea that one body shape is ideal over another - they can still have an extremely unhealthy relationship with their body mentally. This is where eating disorders come from: the idea that you’re just not good enough. That’s unhealthy, too. And if you tell me that is healthier than being fat because at least you’re skinnier? That just means you are fucking nuts.

Moving on, you show me the statistic that says every person who works out or is athletic or however you want to put it is guaranteed to lose weight and be healthier. Show me that statistic because I’ve been fat my whole life despite going on diets, being a part of varsity athletics all five years of military school, and attempting to squeeze the gym four times a week into my schedule. Something tells me that this “method” of staying “in shape” is one big contradiction.

I mean, is it so crazy to think that no one person’s biology, as Dr. Collins put it, is the same? And if no one biology is the same, doesn’t that insinuate that a stimulus like exercise may have different results on different bodies?

It also doesn’t help to tell people to stop eating, Dr. Collins. People die if they stop eating. Their body will begin to shut down, they will go into hibernation mode, and it can pose serious threats to their health. I’m going to give the benefit of the doubt and assume Dr. Collins simply slipped up when he was talking, but even if it was a slip, it still means there’s an inkling of a personal belief in that idea of “stop eating if fat = road to ‘success.’”

I’m sorry that I’m not ashamed of being bigger than other people. I owe up to it. I’m fat. However, that doesn’t define me as who I am or what I do/have done, and it does not make me a demographic. It makes me fat and that is all. And I refuse to be thin because you feel like trying to indoctrinate me with this belief that “thin is beautiful.” That’s all this really boils down to. It’s the belief that thinness is equated with purity both physically and mentally.

Unfortunately, I am a walking example of how much bullshit is shoveled into that statement.

Side note: Try to outswim me. I dare you, motherfucker. That’s right. You’re now equated with Oedipus. How does it feel to be paralleled with something you’re not?