The article on Lesch-Nyhan syndrome in this week’s The New Yorker (An Error in the Code) caught my attention. It’s a shame the magazine didn’t publish it online, as it’s worthwhile reading.

Its subtitle is “What can a rare disorder tell us about human behavior?” Not a lot, I’m afraid.

In a nutshell, people with Lesch-Nyhan lack the enzyme HRPT, which is important for purine metabolism. Patients experience damage to their kidneys, joints and other organs. But the most evident feature of the disease is the patients’ drive to inflict physical damage on themselves — what somewhere in the article is referred to as “the imp of the perverse” in reference to a phrase by Edgar Allan Poe.

It won’t come as a surprise that, whereas the kidney and joint damage can be managed in people with the condition, the behavioral problems cannot, at least not very effectively — as Lesch-Nyhan patients tend to bite their fingers and lips off, restraining their hands and removing their teeth are among the most commonly used ways to keep them from doing so.

What can this grim phenotype tell us about human behavior? A scientist who studies the disorder is quoted as saying that “We all do things that are bad for us… Many people bite their fingernails… There are people who chew their lips nervously. Now let’s turn up the volume a little: some people bite their cuticles”. And if you keep on “turning up the volume”, he argues, you end up with people who bite their fingers to the bone. Surely this is an oversimplification. And even if it’s not an oversimplification, it certainly doesn’t go too far towards helping us understand what’s wrong with these patients.

Another thing that captured my attention was the fact that doctors in Japan and France have managed to eliminate self-mutilation in some of these patients by using deep brain stimulation (DBS), a technique that has yet to be approved for this disease in the U.S. Considering the recent report from American scientists of the man who “woke up” as a result of DBS after spending six years in minimally conscious state, I wonder what’s keeping a trial with Lesch-Nyhan patients from starting.

The last thing that caught my attention was the fact that, even though we know what gene is mutated in the disease (HRPT), what part of the brain seems to be affected (the globus pallidus and other parts of the basal ganglia), and what neurotransmitter is reduced (dopamine), there are very few people studying Lesch-Nyhan. During my tenure at Nature Medicine, for example, I don’t recall reading a single submission on this topic. So, for those young scientists who are looking for a niche to get their career started (and for those who are tired of drowning in the swamp of Alzheimer or Parkinson disease), Lesch-Nyhan does not look like a bad possibility at all.

Have you had a chance to read our News Feature on the link between vaccination and autism? I encourage you to read it.

When we first discussed the idea of running this story, I didn’t think there was much in it. After all, the main articles claiming the existence of such a link had been debunked some time ago. What was news to me, though, was how violent the parents of kids with autism have become. This is quite reminiscent of the strategy that animal activists have taken in the UK to make their point.

In the past, we have written editorials on how important it is for researchers to communicate science to the public, trying to help them distinguish between good and bad science. But cases like this make me wonder: would starting a serious dialogue with the concerned parents really make a difference? I sincerely doubt it. Once your emotional reactions take control of your intellect, arguments aren’t likely to make any difference to your point of view.

Being the father of a child with a serious genetic disorder, I have had the opportunity to meet parents of similar kids and see in person how strongly their emotions can cloud their objectivity, particularly at the beginning of their ordeal, when they first get the news that their son or daughter is ill.

There is, however, a clear difference between these parents and the parents of kids with autism; whereas people like me cannot really channel our frustration against anyone other than our own genes, the parents of autistic kids have an easy target in advocates of vaccination schemes to protect kids from diseases that have been eradicated and in scientists who have worked to debunk the vaccine-autism link.

This irony makes their violence even more meaningless than that of animal activists.