QJM Paper Now Available

My paper "Towards a More Inclusive Vision of the Medical Sciences" is now available on the advance access site for QJM: An International Journal of Medicine. Here is the abstract:

Progress in the medical sciences is largely determined by two things: (i) the questions we ask, and (ii) how rigorously and vigorously we attempt to answer them. How do we know which questions are the right questions to ask, and thus the correct questions to spend our time and energies trying to answer? Such evaluative concerns bring into sharper focus the question—‘What is medicine for?’ The international study of rosuvastatin is important not simply because of the health benefits it may confer, but because it inspires a more robust and inclusive vision of the medical sciences. A vision which recognizes that the primary goal of medicine is to promote health, and that includes the health of ‘normal’ people as well as those with illness and disease. This inclusive vision of the medical sciences is a transformative one, it departs from the ‘disease-model’ approach which has dominated distinct areas of medical research for decades.

This paper intersects many of my current research interests- evolutionary biology, aging, and perfectionism. I believe Darwinian medicine challenges many of the assumptions of our current approach to medicine and health care. Rather than just strive to develop drugs that treat the proximate causes of mortality (e.g. cancer, heart disease, etc.) we should also try to gain a better understanding of the ultimate (that is evolutionary) causes of health and disease. This requires us to invest more resources and talent in tackling aging, and work towards developing drugs that intervene in the aging process itself rather than just treat the symptoms of aging.

Perfectionism inspires a more robust vision of human flourishing, one that transcends the "disease model" approach to the medical sciences. Treating disease is important. But it is also important to prevent disease, to provide humans with greater opportunities for health. Medicine that builds on the insights of evolutionary biology and biogerontology might accomplish this. And this is particularly important at this moment of our species' development because aging is now the leading cause of disease and death in the world. This is why I have argued that the aspiration to retard human aging is the most important neglected issue of our time.

Cheers,
Colin

Sleep and Cognitive Performance

The latest issue of Science has this interesting study on how sleep-wake regulation impacts cognition. Here is the abstract:

Throughout the day, cognitive performance is under the combined influence of circadian processes and homeostatic sleep pressure. Some people perform best in the morning, whereas others are more alert in the evening. These chronotypes provide a unique way to study the effects of sleep-wake regulation on the cerebral mechanisms supporting cognition. Using functional magnetic resonance imaging in extreme chronotypes, we found that maintaining attention in the evening was associated with higher activity in evening than morning chronotypes in a region of the locus coeruleus and in a suprachiasmatic area (SCA) including the circadian master clock. Activity in the SCA decreased with increasing homeostatic sleep pressure. This result shows the direct influence of the homeostatic and circadian interaction on the neural activity underpinning human behavior.

And today's Globe has this report on the study. A sample:

Smug early birds take note: Night owls actually have more mental stamina than those who awaken at the crack of dawn, according to new research.

“It's the late risers who have the advantage, and can outperform the early birds,” said Philippe Peigneux, a professor of clinical neuropsychology at the Free University of Brussels in Belgium, who along with co-author Christina Schmidt published the counterintuitive findings in the latest issue of the journal Science.

....The study measured the part of the brain that is home to the circadian master clock that operates according to a day-night cycle. Sleep pressure dampens the circadian signal, and activity in this area decreases the longer the person is awake. The night owls were more resistant to sleep pressure.

Genetics dictate whether someone is a morning person, Prof. Peigneux said, adding that most people are “neutral.” But 15 per cent of the population is an “extreme” early morning or late riser; and another 15 per cent are “moderately evening or morning types.”

Cheers,
Colin

Gene Therapy Trials for CF to Begin in UK

The Guardian reports that trials using gene therapy for cystic fibrosis have begun. Fingers crossed that these trials prove to be a safe and effective way of improving the lives of those that suffer this genetic disorder.

You can learn more about CF at the "Your Genes, Your Health" web site.

Cheers,
Colin

Eugenics: Past and Present (Re-posted)

A few people have brought this article in yesterday's Globe to my attention [and there is a nice response here from one of my colleagues at Queen's]. So I felt it appropriate to re-post this earlier post on "Eugenics: Past and Present".


Eugenics is the study of ways to improve the genetic constitution of humanity.

Historically, eugenics has inspired egregious social practices such as the sterilization of those deemed "unfit" for reproduction. Canada’s own Tommy Douglas, voted by the CBC as Canada’s “greatest Canadian”, espoused such unjust eugenic policies.

The most abhorrent example of eugenics gone awry was the Nazi regime, which lead to the murder of millions deemed a threat to the purity of the gene pool.

It is important to reflect back on past eugenic movements, for the lessons of the past can help us address the challenges we now face as new genetic technologies (e.g. tests for genetic disease) become available.

Is eugenics, understood as the aspiration to improve humanity’s heredity, necessarily unjust?

I believe it is not. In fact, justice can, in certain circumstances, *require us* to pursue measures that can be accurately described as “eugenic”. But to see how we must be clear about what was unjust about past eugenic policies. And that is my exclusive focus today.

The problems with past eugenic policies were basically two-fold. Firstly, the ends such practices sought to achieve were not morally or empirically sound. So aspirations such as “racial hygiene”, for example, are not morally defensible aspirations. Nor were past eugenic policies grounded in sound science. Assumptions about the heredity of criminality, work ethic, etc. were based on prejudice and dogma, not scientific evidence. So the particular ends of past eugenic movements were not defensible. This does not mean that any aspiration to improve humanity’s heredity is invalid. But those premised on prejudice and pseudoscience will fail the test of being defensible societal goals.

Secondly, past eugenic policies violated an important moral dictum: *the end cannot justify the means*. Even if one could articulate a laudable eugenic goal- like the reduction of disease- it does not follow that any means for achieving that end will be justified. So much more thought must be given to the *means* for achieving these ends. They must be rationally connected to the end, and proportionate, for example. Past eugenic policies also failed this second test.

But we do not need to look to the past to see how these lessons are still pertinent today. To set the context for the discussion that follows, I want you to ask yourself how you would respond to the following scenario.

A couple is at a higher than average risk of having a child with a genetic disorder or disability. Furthermore, let’s assume that society has decided that the goal of reducing the prevalence of disease and disability is a laudable goal. And thus they are considering what action, if any, should be taken to either encourage, or possibly compel, the at-risk couple from giving birth to a child with this condition.

So the government considers many possible measures of varying degrees of intrusiveness. Some legislators propose encouraging prospective parents, who are known to be at an increased risk, of undergoing genetic counseling. The government could even offer this service for free. Maybe even offer at-risk couples a small financial incentive for undergoing genetic counseling. Other legislators take a more harsh stance. They believe we should require at-risk parents to undergo genetic counseling. And some go yet even further, claiming such parents should be required to undergo genetic counseling and genetic tests. And some worry that even if these parents undergo the test, and it turns out they do have a high risk of passing on a genetic disorder, or are actually pregnant and prenatal tests indicate the child has a condition or disorder, the parents do not have to avoid conception or birth. So one hardliner says we should go even further yet. “Let’s make it illegal for these people to have a baby!” cries one excited law maker. “Heck, let’s put them in jail for having intercourse!”.

I suspect none of us will share the fanaticism of this final hardline proposal. Of the possible forms of intervention which are up for consideration, gross violations of reproductive freedom (like compelled abortion or the criminalization of intercourse) would be easily ruled out. For such a policy violates the second point raised above- that the ends cannot justify the means. While it is laudable to take preventative steps to ensure healthy children are born, we cannot pursue this aim in a zealous fashion that unjustly infringes on the liberties of prospective parents. While it is tricky to say precisely where we draw the line, the proposal of our excited hardliner clearly crosses that boundary.

Well, the reality is that many countries, including my own country (Canada), actually have laws on the books that do precisely what this hardliner proposes. We actually threaten to imprison people who have an increased risk of creating children with genetic abnormalities! Few people realise this. If you travel over to here, you will see Canada’s Criminal Code. And under Section V, titled SEXUAL OFFENCES, PUBLIC MORALS AND DISORDERLY CONDUCT, you will see that incest is a criminal offence punishable by up to 14 years in prison.

What is the justification for criminalizing incest (among consenting adults)? The most obvious justification would be a eugenic justification. And while the aim of reducing the prevalence of genetic diseases and abnormalities can be a laudable goal, criminalizing the sexual behavior of those who might be at an increased risk of conceiving children with a disorder or disability is not justified. Such a law suffers the same defects as past unjust eugenic policies. It is based on poor empirical evidence (e.g. concerning the increased risk and severity of the harm of inbreeding) and the harms of the law are disproportionate compared to any purported benefits.

In the latest issue of The Journal of Medical Ethics I have this short piece which addresses incest and the case of Patrick Stübing and his sister Susan Karolewski. See this video for details of their particular case.

The case of criminalizing incest raises many difficult questions. And grappling with these issues are important for they could determine how we respond to other scenarios where analogous stakes might be at risk. Many couples that are free to procreate under current law might actually have a higher risk of passing on a severe genetic disorder or disability. And if we can justify criminalizing the procreative choices of those closely related to each other, are we not lead down the path prescribed by the overzealous hardliner I noted above?

Perhaps there are other justifications one might invoke to make the case for criminalizing incest. Protection of the family, for example. I believe these arguments will also face difficult challenges, though I won’t pursue these points here.

But I think the case of incest law is an interesting example to consider for it illustrates how the concerns of past eugenic movements are still alive today.

Cheers,
Colin

New Discovery of Biochemical Pathway to Retard Aging

This is very exciting news!

Scientists have long known that calorie restriction confers a longevity benefit, but this new discovery reveals another pathway that could extend the health span-- activating the "hypoxic response" which occurs when oxygen is low.

The experiments reported in this paper in the latest issue of Science were conducted on nematode worms whose genes where altered to turn on a protective reaction which occurs when there is a drop in oxygen. In other words, researchers could simulate the effects of a drop in oxygen without there actually being a drop in oxygen (just like it is possible to simulate some of the effects of CR without actually reducing calories (see here)).

This new finding adds another potential route to pursue in terms of developing a pharmaceutical that retards aging in humans. Perhaps a drug that safely simulates the hypoxic response could help insulate aging populations from the diseases that kill most humans today.

Cheers,
Colin

Fear Among Today's Youth

I couldn't help but see the irony of CNN running this story about this study. The study examined the impact various developments (like global events, television and media exposure) have on the fears of children and adolescents. Students from Grade 2 through 12 were asked questions about their common fears. The fears and rank order were:

"being raped” (1st), “terrorist attacks” (11th), “having to fight in a war” (13th), “drive-by shootings” (15th), “shootings” (17th), “tornadoes/hurricanes” (18th), “my getting pregnant or getting my girlfriend pregnant” (19th), and “drowning/swimming in deep water” (20th). Further analysis revealed that of the remaining 12 contemporary fear items endorsed as most common fears in this study, 11 ranked in the top one half (i.e., “going to jail” was 21st; “car wreck” was 25th; “carrying guns, knives, and weapons” was 28th; “cults/satanic worship/voodoo” was 34th; “violence near my home” was 35th; “crime” was 37th; “being poor” was 38th;“gangs” was 39th; “robberies” was 40th; and “my parents losing their jobs” was 41st).

A few excerpts from the CNN story:

By 8 years old, children know the difference between fantasy and reality, so they are more likely to be frightened by televised news coverage of events such as kidnappings, murders and terrorism, said Joanne Cantor, professor of at University of Wisconsin-Madison, who was not involved with the study. Before age 8, they express fears of fictional scenarios and characters but also worry about hurricanes and drowning, she said.

....Many experts said parents should limit their elementary-school-age children's exposure to local news to reduce anxiety about tragic events depicted on television.

Young children do not understand that when a news clip about an event such as a kidnapping is repeated, it is not a separate instance of a kidnapping, Huebner said.

Now I said it is ironic that CNN reports on this because they are notorious for playing the "fear" card to the tilt (just see this for a sample of its worst offender). Consider the two top stories on CNN's "most popular" page: #1 is Gang triggerman honored in death; #2 Transgender slaying trial begins. With headlines like this no wonder "Panic!" Governance continues to flourish.

Cheers,
Colin

Gene Therapy Article in TimesOnline

Today's TimesOnline has an interesting analysis piece on the therapeutic potential of gene therapy. Here is an excerpt:

Gene therapies have been a part of medicine for almost two decades. Only recently have they started to deliver on their immense promise after a string of setbacks raised doubts about the safety of manipulating human DNA, centre, to treat disease.

The idea behind gene therapy is that by inserting new copies of a particular gene into human cells, it should be possible to correct defects, or to enhance beneficial biological processes. This can be done with viruses, which introduce their own genetic material into the cells they infect, and can be engineered to carry a human gene.

....Several trials have also started to produce extremely encouraging results. The Anglo-French SCID therapy, which now uses a new vector, seems to be capable of curing the disease indefinitely. Another UCL team, led by Robin Ali, has improved the sight of patients with Leber’s congenital amaurosis, a genetic cause of blindness. Cerepro, an Ark Therapeutics drug that uses the same vector as the foetal growth promoter, has had good results against brain cancer.

....The dream of using gene therapy to treat more systemic diseases such as cystic fibrosis, muscular dystrophy or spinal muscular atrophy, however, remains more distant. The challenge of conveying the replacement gene to cells throughout the body is one that still has to be overcome.

Cheers,
Colin

The Value of Intellectual Diversity

Academia, like society in general, is susceptible to cliques. Cliques are exclusive groups of people. And like-minded scholars (whether they be egalitarians, libertarians, feminists or environmentalists) often form and interact within cliques. Indeed these tightly knit intellectual communities often function as the spring board or catalyst for a great deal of research within disciplines. So scholars might organize and attend conferences on their shared interest, edit books and publish "back and forth" exchanges on topics of mutual interest in specialized scholarly journals, etc.

Because academia is often characterised in overtly idealized terms (e.g. as the pursuit of knowledge), very intelligent academics can be blind to the cognitive limitations of their own discipline, the social pressures to conform, etc. When scholars are driven by the short-term carrots of careerism (e.g. winning the praise of their dissertation supervisor, getting published and eventually getting tenure and promotion) it is easy to go loose sight of the many obstacles that can impede genuine knowledge.

So it is important to recognise that academics, just like all groups, are vulnerable to various biases and pressures to conform. Like-minded thinkers enjoy each other's company. And "outsiders" can make one feel uncomfortable. So what happens? Well, political philosophers tend to dismiss the objections of economists as "irrelevant", environmentalists characterize all dissenters as "science-sceptics", etc. Academics tend to read research in their own narrow field (why waste time reading more broadly if it won't help you realise one of the short-term carrots mentioned above?), send their work to journals receptive to their ideas (after all, who wants their work to be rejected!), attend conferences where those sympathetic to their position will likely attend, etc.

The professionalization of academic disciplines creates pressures that run counter to the goals of truth and knowledge. And it is important that we recognize this.

How can one overcome (or at least minimize) some of these biases and limitations? At a minimum one should try to stay abreast of developments in fields outside of one's main discipline. So you can reap the benefits of "intellectual" diversity by holding "many different minds" imaginatively present when doing your research. This can be achieved by being well read across a broader range of disciplines than might be required to churn out just specialized research in a narrow sub-field of a discipline.

But reaping the benefits of diversity requires more than just holding others imaginatively present. One should also try to make them "conversationally present" by presenting your work to different audiences, perhaps even sending your work to journals in different disciplines (and getting feedback from reviewers in those fields). The latter has been enormously valuable to me in my own research.

Now this kind of strategy has some risks in that it might take one longer to hone the skills to write for a different audience and one never knows for sure what the short-term "careerism" payoff might be (e.g. how much weight hiring committees might place on publications in a different discipline). But on the other hand one shouldn't overlook the long-term benefits that can come from forging interdisciplinary interests. Not only is it intellectually stimulating (and has not only sustained, but actually increased!, my enthusiasm for research over the years), but it can actually make one a better scholar. It can broaden your understanding of particular questions and provide you with the distinct skills needed to progress debates in new and interesting ways.

I was motivated to write about this topic when I happened to come across this recent paper in the Personality and Social Psychology Bulletin. The authors examine the benefits of social diversity, which parallels some of the points I mention above concerning intellectual diversity. They conclude their paper with the following:

out-group newcomers may have their primary impact on group performance, not because they bring unique information to the group, but because they command the attention of oldtimers and force them to consider their social standing in the group. Consequently, although allies of out-group newcomers may experience distress, when it comes to mastering the task, the pain is worth the gain.

The Globe has an interesting story on this study here.

Cheers,
Colin

QJM Paper on a More Inclusive Vision of the Medical Sciences

My Commentary entitled "Towards a More Inclusive Vision of the Medical Sciences" has been accepted for publication in QJM: An International Journal of Medicine. Here is the abstract for this forthcoming paper:

Progress in the medical sciences is largely determined by two things: (1) the questions we ask, and (2) how rigorously and vigorously we attempt to answer them. How do we know which questions are the right questions to ask, and thus the correct questions to spend our time and energies trying to answer? Such evaluative concerns bring into sharper focus the question- "What is medicine for?" The international study of rosuvastatin is important not simply because of the health benefits it may confer, but because it inspires a more robust and inclusive vision of the medical sciences. A vision that recognizes that the primary goal of medicine is to promote health, and that includes the health of "normal" people as well as those with illness and disease. This inclusive vision of the medical sciences is a transformative one, it departs from the "disease-model" approach which has dominated distinct areas of medical research for decades.

Cheers,
Colin