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Showing posts from 2015

On literature pollution and cottage-industry science

A few days ago there was a minor Twitterstorm over a particular paper that claimed to have found an imaging biomarker that was predictive of some aspect of outcome in adults with autism. The details actually don’t matter that much and I don’t intend to pick on that study in particular, or even link to it, as it’s no worse than many that get published. What it prompted, though, was more interesting – a debate on research practices in the field of cognitive neuroscience and neuroimaging, particularly relating to the size of studies required to address some research questions and the scale of research operation they might entail.
What kicked off the debate was a question of how likely the result they found was to be “real”; i.e., to represent a robust finding that would replicate across future studies and generalise to other samples of autistic patients. I made a fairly uncompromising prediction that it would not replicate, which was based on the fact that the finding derived from: a smal…

What do GWAS signals mean?

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Genome-wide association studies (GWAS) have been highly successful at linking genetic variation in hundreds of genes to an ever-growing number of traits or diseases. The fact that the genes implicated fit with the known biology for many of these traits or disorders strongly suggests (effectively proves, really) that the findings from GWAS are “real” – they reflect some real biological involvement of those genes in those diseases. (For example, GWAS have implicated skeletal genes in height, immune genes in immune disorders, and neurodevelopmental genes in schizophrenia).
But figuring out the nature of that involvement and the underlying biological mechanisms is much more challenging. In particular, it is not at all straightforward to understand how statistical measures derived at the level of populations relate to effects in individuals. Here, I explore some of the diverse mechanisms in individuals that may underlie GWAS signals.
GWAS take an epidemiological approach to identify genetic …

The Genetics of Neurodevelopmental Disorders

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The Genetics of Neurodevelopmental Disorders is a new book that will be published by Wiley in 2015. It is due out in August (in Europe) and September (in the USA), and is available on Amazon here

I had the pleasure of editing the book, which comprises 14 chapters from world-leading scientists and clinicians. Our aim is to provide a timely synthesis of this fast-moving field where so much exciting progress has been made in recent years. Below I have reproduced the Foreword from the book, which outlines the rationale for writing it and the conceptual principles on which it is based, as well as a summary of the topics covered (giving an overview of the state of the field in the process). There are also links to two chapters that are freely available. On behalf of all the authors, I hope the book will prove useful.


Foreword
The term “neurodevelopmental disorders” is clinically defined in psychiatry as “a group of conditions with onset in the developmental period… characterized by developme…

Genetics in Modern Medicine – the Future is Now

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--> The Human Genome Project was founded on the premise that it would unlock the secrets of disease and lead to new cures for many disorders. While the new cures have mostly yet to materialise, the secrets of disease are indeed being revealed, in ways that will transform medicine over the coming years. Both our knowledge of the genetic causes of disease and our ability to test for those causes have increased exponentially in recent years. These advances will place genetic testing at the front line of diagnostics, not just for the relatively small number of already well-known inherited disorders, but for an ever-widening array of conditions, both rare and common.
The lifetime prevalence of rare disorders in European populations is estimated at 6-8% of the population (National Rare Disease Plan for Ireland, 2014-2018). Over 6,000 distinct genetic disorders are already defined and more are being discovered at an increasing pace. For many patients with such disorders, their exper…