Showing posts from 2011

What is a gene "for"?

“Scientists discover gene for autism” (or ovarian cancer, or depression, cocaine addiction, obesity, happiness, height, schizophrenia… and whatever you’re having yourself).These are typical newspaper headlines (all from the last year) and all use the popular shorthand of “a gene for” something.In my view, this phrase is both lazy and deeply misleading and has caused widespread confusion about what genes are and do and about their influences on human traits and disease.The problem with this phrase stems from the ambiguity in what we mean by a “gene” and what we mean by “for”.These can mean different things at different levels and unfortunately these meanings are easily conflated.First, a gene can be defined in several different ways.From a molecular perspective, it is a segment of DNA that codes for a protein, along with the instructions for when and where and in what amounts this protein should be made.(Some genes encode RNA molecules, rather than proteins, but the general point is th…

Does brain plasticity trump innateness?

The fact that the adult brain is very plastic is often held up as evidence against the idea that many psychological, cognitive or behavioural traits are innately determined. At first glance, there does indeed appear to be a paradox. On the one hand, behavioural genetic studies show that many human psychological traits are strongly heritable and thus likely determined, at least in part, by innate biological differences. On the other, it is very clear that even the adult brain is highly plastic and changes itself in response to experience.

 The evidence on both sides is very strong. In general, for traits like intelligence and personality characteristics such as extraversion, neuroticism or conscientiousness, among many others, the findings from genetic studies are remarkably consistent. Just as for physical traits, people who are more closely related resemble each other for psychological traits more than people with a more distant relationship. Twin study designs get around the …

Engineering viruses to trace neural connections

I have a new post on BigThink on engineering viruses to trace neural connections.

A brief hiatus

Apologies for not posting anything recently. I have something in the works at BigThink and a few more in the pipeline but it has been hard finding the time to blog recently. I hope to be back to it in a couple of weeks.

Split brains, autism and schizophrenia

A new study suggests that a gene known to be causally linked to schizophrenia and other psychiatric disorders is involved in the formation of connections between the two hemispheres of the brain. DISC1 is probably the most famous gene in psychiatric genetics, and rightly so. It was discovered in a large Scottish pedigree, where 18 members were affected by psychiatric disease.
The diagnoses ranged from schizophrenia and bipolar disorder to depression and a range of “minor” psychiatric conditions. It was found that the affected individuals had all inherited a genetic anomaly – a translocation of genetic material between two chromosomes. This basically involves sections of two chromosomes swapping with each other. In the process, each chromosome is broken, before being spliced back to part of the other chromosome. In this case, the breakpoint on chromosome 1 interrupted a gene, subsequently named Disrupted-in-Schizophrenia-1, or DISC1.

That this discovery was made using classic…

Welcome to your genome

There is a common view that the human genome has two different parts – a “constant” part and a “variable” part. According to this view, the bases of DNA in the constant part are the same across all individuals. They are said to be “fixed” in the population. They are what make us all human – they differentiate us from other species. The variable part, in contrast, is made of positions in the DNA sequence that are “polymorphic” – they come in two or more different versions. Some people carry one base at that position and others carry another. The idea is that it is the particular set of such variations that we inherit that makes us each unique (unless we have an identical twin). According to this idea, we each have a hand dealt from the same deck.

The genome sequence (a simple linear code made up of 3 billion bases of DNA in precise order, chopped up onto different chromosomes) is peppered with these polymorphic positions – about 1 in every 1,250 bases. That makes about 2,400,00…

Hallucinating neural networks

Hearing voices is a hallmark of schizophrenia and other psychotic disorders, occurring in 60-80% of cases. These voices are typically identified as belonging to other people and may be voicing the person’s thoughts, commenting on their actions or ideas, arguing with each other or telling the person to do something. Importantly, these auditory hallucinations are as subjectively real as any external voices. They may in many cases be critical or abusive and are often highly distressing to the sufferer.

However, many perfectly healthy people also regularly hear voices – as many as 1 in 25 according to some studies, and in most cases these experiences are perfectly benign. In fact, we all hear voices “belonging to other people” when we dream – we can converse with these voices, waiting for their responses as if they were derived from external agents. Of course, these percepts are actually generated by the activity of our own brain, but how?

There is good evidence from neuroimaging st…

Environmental influences on autism - splashy headlines from dodgy data

A couple of recent papers have been making headlines in relation to autism, one claiming that it is caused less by genetics than previously believed and more by the environment and the other specifically claiming that antidepressant use by expectant mothers increases the risk of autism in the child. But are these conclusions really supported by the data? Are they strongly enough supported to warrant being splashed across newspapers worldwide, where most readers will remember only the headline as the take-away message? The legacy of the MMR vaccination hoax shows how difficult it can be to counter overblown claims and the negative consequences that can arise as a result.

So, do these papers really make a strong case for their major conclusions? The first gives results from a study of twins in California. Twin studies are a classic method to determine whether something is caused by genetic or environmental factors. The method asks, if one twin in a pair is affected by some disor…

On discovering you’re an android

Deckard: She's a replicant, isn't she?
Tyrell: I'm impressed. How many questions does it usually take to spot them?
Deckard: I don't get it, Tyrell.
Tyrell: How many questions?
Deckard: Twenty, thirty, cross-referenced.
Tyrell: It took more than a hundred for Rachael, didn't it?
Deckard: [realizing Rachael believes she's human] She doesn't know.
Tyrell: She's beginning to suspect, I think.
Deckard: Suspect? How can it not know what it is?

A very discomfiting realisation, discovering you are an android. That all those thoughts and ideas and feelings you seem to be having are just electrical impulses zapping through your circuits. That you are merely a collection of physical parts, whirring away. What if some of them break and you begin to malfunction? What if they wear down with use and someday simply fail? The replicants in BladeRunner rail against their planned obsolescence, believing in the existence of their own selves, even with the knowledge t…

Complex interactions among epilepsy genes

A debate has been raging over the last few years over the nature of the genetic architecture of so-called “complex” disorders. These are disorders - such as schizophrenia, epilepsy, type II diabetes and many others - which are clearly heritable across the population, but which do not show simple patterns of inheritance. A new study looking at the profile of mutations in hundreds of genes in patients with epilepsy dramatically illustrates this complexity. The possible implications are far-reaching, especially for our ability to predict risk based on an individual’s genetic profile, but do these findings apply to all complex disorders?

Complex disorders are so named because, while it is clear that they are highly heritable (risk to an individual increases the more closely related they are to someone who has the disorder), their mode of inheritance is far more difficult to discern. Unlike classical Mendelian disorders (such as cystic fibrosis or Huntington’s disease), these disorders…