And we are back!

So the last year has been a doozy. Some ups and some downs. Focusing on the positive, I'm happy to report I have become a real boy and taken a faculty position. I'm slowly settling in and am feeling that bug to blog again.

One interesting thing I got to be involved with was the University of Maryland School of Medicine (where I am now) Festival of Science. The video of my presentation, which is a summary of my research, plus some actual big names in science can be found here.

I've embedded my segment below (in theory):

Tell me what you think!

Big Cats and Genetics

My family went to the zoo on Friday and saw the elusive snow leopard. Such a beautiful creature. My wife goes regularly and said the most she usually sees is a tail or spine. We got to see much more when I went, probably due to the late time of our visit. The leopardess looked pretty hungry or desperate to have her sick cubs:

Courtesy of my wife.

This morning I was reading the science page of The New York Times and came across an article about a different big cat, the cheetah. Dr. Stephen O'Brien, now of St. Petersburg State University in Russia and formally of the NIH National Cancer Institute, and some of his colleagues have figured out the genetic variant that changes the type of spotting pattern in different cheetahs:

The one on the right is called a king cheetah. This same gene, Taqpep, is also involved in tabby patterns of domestic cats. Overall pretty cool, and these types of discoveries are helpful in our understanding some questions in evolutionary genetics.

This gene is one of large effect. "Large effect" means that the genetic variant has a direct consequence on the appearance (phenotype). When people think of genetics this is usually the type of variation they are familiar with. Eye color (found in HERC2), hair color (red comes from MC1R), and others, but it turns out that most phenotypes are not derived from genetic variation of large effect, especially for ones of primary interest to us, such as diseases like obesity or autism. They call these latter type of traits complex phenotypes because they usually involve many genes of small effects.

Height is a good example of a complex trait because we know genetics contributes significantly to variation in height (nutrition is important as well). However, height is a composite of many different aspects of our bodies: the length of our necks, the length of our torso, the length of our femur, and so on. In other words height represents an amalgamation of genetics acting on multiple traits all with a much smaller effect. Only when taken together do we see the larger change.

I have been thinking a lot about the genetics of complex diseases/traits and how we may best understand them. I mention it here to introduce the topic, which I will hopefully talk more about soon.

Research Making a Difference

So my wife pointed out a cool article on a NY Times article describing the results of a research study looking at duration of CPR and outcomes. The main conclusion was that in some cases longer durations turned into better outcomes:

The findings challenge conventional medical thinking, which holds that prolonged resuscitation for hospitalized patients is usually futile because when patients do survive, they often suffer permanent neurological damage. To the contrary, the researchers found that patients who survived prolonged CPR and left the hospital fared as well as those who were quickly resuscitated. (emphasis added)

I do not do anything close to this kind of research, but things like this give me hope that as we move forward more and more people will benefit from the inspiration and revelation that comes through research. In this case a measurable and direct effect on the lives of ER patients. So very cool. For me it also gives impetus to do the research well so that others, albeit indirectly, can benefit in some small way.

Research needs to be thorough and measured. For example at the end of the article one of the main authors says:

You don’t want to be on the low end of this curve. Hospitals that are outliers should reassess what they’re doing and think about extending the duration of their CPR....There isn’t going to be a magic number. If you’re in there 10 to 15 minutes, you need to push higher, but as you get up higher and higher, you get to the point of very little return. - Dr. Stephen J. Green

His interpretation calls for change and reevaluation of previous assumptions, not the call for new ones. Conscientious change.

Update: I realized the connection to what I posted the previous day and have added a link.