Tag Archives: genetics

Sergey Brin’s Search for a Parkinson’s Cure

After discovering that he held the LRRK2 mutation on his twelfth chromosome (indicating that his lifetime risk of developing Parkinson’s disease is 30-75% rather than the typical 1%), Google co-founder Sergey Brin became one of the first philanthropists to fund research into a disease based on the results of a genetic test.

In Thomas Goetz’s comprehensive profile of Brin and his fight against Parkinson’s disease and Parkinson’s science, we are shown how Sergey Brin wants to change how disease research is conducted:

Most Parkinson’s research, like much of medical research, relies on the classic scientific method: hypothesis, analysis, peer review, publication. Brin proposes a different approach, one driven by computational muscle and staggeringly large data sets. It’s a method that draws on his algorithmic sensibility—and Google’s storied faith in computing power—with the aim of accelerating the pace and increasing the potential of scientific research. “Generally the pace of medical research is glacial compared to what I’m used to in the Internet,” Brin says. “We could be looking lots of places and collecting lots of information. And if we see a pattern, that could lead somewhere.’ […]

In Brin’s way of thinking, each of our lives is a potential contribution to scientific insight. We all go about our days, making choices, eating things, taking medications, doing things—generating what is inelegantly called data exhaust. A century ago, of course, it would have been impossible to actually capture this information, particularly without a specific hypothesis to guide a researcher in what to look for. Not so today. With contemporary computing power, that data can be tracked and analyzed. “Any experience that we have or drug that we may take, all those things are individual pieces of information,” Brin says. “Individually, they’re worthless, they’re anecdotal. But taken together they can be very powerful.” […]

“Even if any given individual’s information is not of that great quality, the quantity can make a big difference. Patterns can emerge.” […]

This is what Jim Gray, the late Microsoft researcher and computer scientist, called the fourth paradigm of science, the inevitable evolution away from hypothesis and toward patterns. Gray predicted that an “exaflood” of data would overwhelm scientists in all disciplines, unless they reconceived their notion of the scientific process and applied massive computing tools to engage with the data. “The world of science has changed,” Gray said in a 2007 speech–from now on, the data would come first.

The profile is notable for other reasons, too–particularly in showing how Brin has dealt with learning of his high risk of developing Parkinson’s in a very calculated way and how the idea that one’s genetic information is “toxic knowledge” is becoming a dated one.

I was also intrigued to learn that this proposed method of science–large-scale personal tracking to create huge data sets in order to discover possible meaningful associations–is very similar to the topic of Brin’s unfinished Stanford PhD.

The Heritability of Happiness

A study looks at how much of our happiness can be attributed to our genes?

Neither socioeconomic status, educational attainment, family income, marital status, nor an indicant of religious commitment could account for more than about 3% of the variance in well-being (WB). From 44% to 52% of the variance in WB, however, is associated with genetic variation. Based on the retest of smaller samples of twins after intervals of 4, 5 and 10 years, we estimate that the heritability of the stable component of subjective well-being approaches 80%.

This high percentage was quite surprising, seemingly not leaving much ‘space’ for the other determinants of happiness to make much difference.

The study begins with:

Are those people who go to work in suits happier and more fulfilled than those who go in overalls? Do people higher on the socioeconomic ladder enjoy life more than those lower down? Can money buy happiness? As a consequence of racism and relative poverty, are black Americans less contented on average than white Americans? Because men still hold the reins of power, are men happier than women? [This study] indicated that the answer to these questions, surprisingly, is “no”. [The] authors pointed out that people have a remarkable ability to adapt, both to bad fortune and to good, so that one’s life circumstances, unless they are very bad indeed, do not seem to have lasting effects on one’s mood.

via @bakadesuyo

The New Nature-Nurture Argument

As it stands, the nature-nurture debate is wrong, proposes David Shenk in his book on the subject, The Genius in All of Us. Shenk submits the idea that we overestimate the effect genes have on many heritable traits, especially intelligence (or that ever-elusive ‘genius’).

According to Shenk, and he is persuasive, none of this stuff is genetically determined, if by “determined” you mean exclusively or largely dictated by genes. Instead, “one large group of scientists,” a “vanguard” that Shenk has labeled “the interactionists,” insists that the old genes-plus-environment model (G+E) must be jettisoned and replaced by a model they call GxE, emphasizing “the dynamic interaction between genes and the environment.” They don’t discount heredity, as the old blank-slate hypothesis of human nature once did. Instead, they assert that “genes powerfully influence the formation of all traits, from eye color to intelligence, but rarely dictate precisely what those traits will be.”

The Hacker News discussion on this article is as erudite as ever, and through it I discovered the story of László Polgár and his three daughters:

[Chess grandmaster Judit Polgár] and her two older sisters, Grandmaster Susan and International Master Sofia, were part of an educational experiment carried out by their father László Polgár, in an attempt to prove that children could make exceptional achievements if trained in a specialist subject from a very early age. “Geniuses are made, not born,” was László’s thesis. He and his wife Klara educated their three daughters at home, with chess as the specialist subject. However, chess was not taught to the exclusion of everything else. Each of them has several diplomas and speaks four to eight languages.

Shenk’s book sounds like a scientifically-rigourous version of Gladwell’s latest.

via Intelligent Life

The Ambiguity of Sex

I’m not a big follower of athletics, but two news items have somehow made their way to my mental inbox from the IAAF World Athletics Championships in Berlin: how ridiculously fast Usain Bolt is, and the controversy surrounding Caster Semenya.

On the latter, Caster is currently undergoing gender verification tests and in the process has garnered a lot of press attention—attention that appears to come from people who are vastly uneducated on the issues being debated. The Nation looks at these issues and describes how sexuality is more ambiguous than you might think.

Let’s leave aside that being male is not the be-all, end-all of athletic success. A country’s wealth, coaching facilities, nutrition and opportunity determine the creation of a world-class athlete far more than a Y chromosome or a penis ever could.

[…] Gender–that is, how we comport and conceive of ourselves–is a remarkably fluid social construction. Even our physical sex is far more ambiguous and fluid than is often imagined or taught. Medical science has long acknowledged the existence of millions of people whose bodies combine anatomical features that are conventionally associated with either men or women and/or have chromosomal variations from the XX or XY of women or men. Many of these “intersex” individuals, estimated at one birth in every 1,666 in the United States alone, are legally operated on by surgeons who force traditional norms of genitalia on newborn infants.

There are a number of good articles written on this, one of which is this excerpt from Robert Peel’s Eve’s Rib (that discusses the case of María José Martínez Patiño), and the Wikipedia articles I’ve linked to above.

The Genetic Gap

I can’t write a better leading sentence than David already has: “In an article encouraging us not to use genetic tendencies for racist ends, William Saletan offers a possible genetic answer [to the question, Why are there so many black athletes?]”

One example is the RR variant of ACTN3, a gene that affects fast generation of muscular force and correlates with excellence at speed and power sports. The opposite variant of the gene is called XX. Tests indicate that the ratio of people with RR to people with XX is 1 to 1 among Asians, 2 to 1 among European whites, and more than 4 to 1 among African-Americans.