jorge.cortell.net

A few weeks ago, as part of an unusual birthday gift, my fiancé and I signed up to get our genetic test.

So we ordered the test kit online, and when we entered the state (NY), a big warning told us that according to state laws, we could not produce or mail the samples back to their labs from New York. WTF?! OK, whatever. As if a nonsensical law did not have many ways around it. Bring it on!

So a few days later the kits came, with very detailed instructions and easy to follow procedure (if you consider producing gallons of spit “easy”).

But being cautious as I am, I decided to research online, from reputable sources, the whole legal status of genetic sample and shipment in New York. Both, a genealogist with a law degree, and a couple of scholars, wrote posts about it with enough detail and information to make me reconsider my “who-cares” attitude.

What was my only way out? To cross the border to produce and send the samples back. And that’s what I did. I took the train in Grand Central Station, rode to New Jersey, delivered to FedEx, and rode back. One hour later I had accomplished my mission of both getting what I wanted and abiding with the law. Annoying and stupid. But it’s the law. 

In 5 weeks we’ll have the results. I’m sure it will be worth it, no only for the information coming back, but also for the very altruistic reason of contributing to research and a deeper understanding of our genes.

As I mentioned in my previous post, at IBM Innovation Center in Chicago they have a Watson (more info here) interactive kiosk with which to play an interactive game of Jeopardy. In case you have been living in a cave for the past few months, Watson beat Jeopardy human champions on live TV, the significance of which can not be overstated.

Now, remember: this is a “small version” of Watson, and a “self-contained” version of Jeopardy. So, no, I did not beat the full Watson at the full Jeopardy game. As a matter of fact, I only had time for a few questions, and I am absolutely certain that give enough time, Watson would have crushed me. I have only deep admiration at the incredible job IBM has made with Watson. They are making history in a way we con not even begin to understand yet. They are definitely changing the world, and for the better.

Having said that, let the glory glow bathe me for a minute. After all, how many people can show a picture of their score ahead of Watson’s at Jeopardy? Take that, Dr. Cooper… Bazinga!

After posting graphs and cold data (quite ilustrative, I believe), and the discussion it has generated (people, why don’t you use the “comment” instead all the other unstructured methods you are using?), please let me write a caveat about graphs and cold data.

In my high-tech gym, you have the option to have a lot of data collected, for your own, private and personal use. It seems like a great idea at first. For example, I can access via a secure web site real time stats of my workouts, such as the “fitness balance” (which shows my emphasis in weight lifting, and then swimming -some data greyed out for privacy purposes-):

Sounds great, doesn’t it? Not that fast.

The following graph (Workout Log) allows me to see how many times I have worked out. Since I tend to go to the gym everyday (but it is not always possible), an average of 4 times per week sounds reasonable, but what is that max. 8 times per week number? Why is there such a dip in mid February?

Data often needs to be contextualized, otherwise we might end up with the wrong conclussion (those 8 workouts per week happened to be visits to the gym to do a personal assesment and training routine design, added to my regular workouts; and the dip… just a long trip!).

But even worse things can happen:

In this case, an obviously strange abherration is showing in the graph. Somehting to be concerned about? Not at all: the scale of the axis make a slight variation (less than 1%, less than a pound) seem like a huge shift. And variables such as measurement thresholds, electronic glitches, etc must be taken into account when considering the validity and presentation of that data.

Let’s just keep in mind: however great quantification and visualization tools are (and I do like them a lot, and believe they can be very beneficial to the way we make decissions and understand the world and ourselves) they must be used with care. After all, this following map might show all the places I have traveled to… but it can not tell you about the experiences lived there…

While generalizations are usually absurd and damaging (asking “What is it like to be in a relationship with someone who has Asperger’s?” is almost as ridiculous a generalization as asking “What is it like to be in a relationship with a blonde?”) it is true that in general, working with an autistic person may be hard, living with one could be unbearable, and being one is…

Some, let’s seek relief and help in knowledge.

From the genetic research field come some exciting news:

Autism is a neurodevelopmental disorder characterized by deficits in language and social behavior. While the brains of people with autism appear broadly normal, previous brain-imaging studies have revealed unusual growth patterns in very young children with the disorder. “It’s clear that in the first two years of life, the brain grows too large, too fast”.

Scientists don’t yet understand the reason for the strange growth spurt–whether it’s caused by too many neurons in a particular part of the brain or a failure to prune extraneous neurons, a common occurrence in normal development. They hope that an unusual set of tools developed for the Allen Brain Atlas, a database of gene expression in the mouse brain, could finally yield clues.

The researchers will focus on the prefrontal cortex, an area in the frontal lobes involved in higher-order social and emotional communication, and one of the brain regions most affected by abnormal early overgrowth. The DNA probes will allow researchers to compare the location and organization of specific cell types, such as excitatory neurons that connect to brain areas outside of the cortex and inhibitory neurons that form local cortical circuits.

“It’s fundamentally important to identify the cause of that overgrowth”. “It may help us understand how best to tailor interventions for autism, not just behaviorally, but for medical and chemical interventions down the road.”

In related news:

A specific structural variation on chromosome 16 dramatically boosts the risk of autism, according to a study published in the New England Journal of Medicine. The finding–one of the most significant to date–permits the development of new diagnostic tests to identify children at risk, and could ultimately point to specific biochemical pathways to target in drug development.

Great: potential findings in DNA research may lead to fast and inexpensive tests, and also to future medication. So what do we do in the meantime?

In yet another study:

By imaging the brains of adolescents with a high-functioning form of autism as they played a social-interaction game, scientists have identified a physiological deficit specific to the disorder. The researchers believe that the change is linked to a diminished sense of self. The findings, recently published in the journal Neuron, could help guide future research into the nature of autism and potentially lead to new ways to diagnose and treat the disorder.

If you have ever had the pleasure to interact with an autist in any deep and meaningful way, the diminished sense of self (“tell me, define me, show me, explain, demonstrate…”) is something quite obvious. But now there is a neuro-anatomical abnormality to account for that. Great.

In the meantime, experiments like this one may help those of us who seem to have our social compass somehow distorted.

Source.

When a M. Phil. from Cambridge, A.B. from Harvard, and M.D. from UCal writes an article insisting on a probabilistic fallacy, a trap where, in one way or another, many have fallen (from Eccles to Nagel), and this article is echoed in many sites (such as BoingBoing) and an infographic is made and becomes staff pick at visual.ly… then you know ignorance is everywhere and very dangerous.

Read the article, then read Roy Weatherford’s “Philosophical foundations of probability theory” (or maybe something simpler), and once you grasp the concept of “a priori theories of probability”, laugh at those who think each one of us is a miracle… we all are, but not because the probability of us being born is extremely small. On the contrary, it is 100%. Otherwise, we would NOT be here. And not understanding this is not understanding what the most promising scientific discoveries of our age (Theoretical Physics) are based on.

We are a miracle because we believe to be one. Because we choose to be one. Or at least, because we can display such an infinite amount of bold and shameless ignorance

We all know TED. But there is a lot of information and academic material freely available online. Luckily that material is growing (education and science have always been areas which, unlike what copyrights zealots might want you to think, have grown thanks to sharing knowledge).

Some examples that I have found amazing:

- Integrative Biology, UCBerkley (English)

- Videos from Nobel lectures at Gustavus Adolphus College (English)

- Lectures on current neuroscience issues by Professor Francisco Rubia (Spanish)