Mutation selection theory confirmed?  or not…

Mutation selection theory confirmed? or not…

Amorim, C. E. G., Gao, Z., Baker, Z., Diesel, J. F., Simons, Y. B., Haque, I. S., … Przeworski, M. (2017). The population genetics of human disease: The case of recessive, lethal mutations. PLOS Genetics, 13(9), e1006915. (open access)
The news headlines promoting this paper said that it confirmed mutation selection balance theory. But it didn’t.  The authors looked at 417 mutations in 32 genes that cause recessive lethal disorders that cause death or failure of reproduction, such as cystic fibrosis. They estimated allele frequencies based on mutation and selection rates and compared those to actual rates.  Actual rates were higher, much higher, for many mutations  For .nonCpGtv mutations, rates were 30fold higher on average, for nonCpGti mutations rates were 15-fold higher on average. They note that rarer mutations that cause fatal outcomes are less likely to have been found, and the possible role of balancing selection and four other explanations.  However, over all, this  does not seem to be a robust confirmation of our ability to predict allele prevalence rates using accepted parameters and mutation selection balance theory; instead it poses questions about exactly why the predicted rates are so much higher than the actual rates.  
Author summary
What determines the frequencies of disease mutations in human populations? To begin to answer this question, we focus on one of the simplest cases: mutations that cause completely recessive, lethal Mendelian diseases. We first review theory about what to expect from mutation and selection in a population of finite size and generate predictions based on simulations using a plausible demographic scenario of recent human evolution. For a highly mutable type of mutation, transitions at CpG sites, we find that the predictions are close to the observed frequencies of recessive lethal disease mutations. For less mutable types, however, predictions substantially under-estimate the observed frequency. We discuss possible explanations for the discrepancy and point to a complication that, to our knowledge, is not widely appreciated: that there exists ascertainment bias in disease mutation discovery. Specifically, we suggest that alleles that have been identified to date are likely the ones that by chance have reached higher frequencies and are thus more likely to have been mapped. More generally, our study highlights the factors that influence the frequencies of Mendelian disease 
Mites, Ticks and Evolution: Conference in Turkey in September

Mites, Ticks and Evolution: Conference in Turkey in September

The XV International Congress of Acarology (XV ICA) is being staged at the WOW Topkapı Palace Hotel in Antalya, Turkey from 2 to 8 September, 2018. That means we are less than 11 months from the biggest event on the calendar for international acarology.

The host city, Antalya (, on the southern, sparkling Mediterranean coast of Turkey, is a major agriculture centre and international tourism destination year round, with a multitude of beachfront resorts. It also hosts many hundreds of conferences and congresses annually.

The congress website at has all the up-to date congress details, including registration and accommodation.

Please note the deadlines for symposia and seminar proposals (22 December 2017), abstract submission (1 March 2018) and bids for staging XVI ICA 2022 (1 March 2018) are fast approaching.

For congress related enquiries, please contact and for scientific matters,

Is maternal health better in societies with more older women?

Is maternal health better in societies with more older women?

Do post-reproductive aged females promote maternal health? Preliminary evidence from historical populations” by Alison Gemmill  and Ralph Catalano is now published in final form in Evolution, Medicine & Public Health. Open access. 


Background and Objectives: Much literature argues that natural selection conserved menopause and longevity in women because those who stopped childbearing helped bolster daughters’ fertility and reduce infant mortality among grandchildren. Whether the presence of grandmothers ever improved fitness sufficiently to affect longevity via natural selection remains controversial and difficult to test. The argument underlying the grandmother and associated alloparenting literature, however, leads us to the novel and testable prediction that the presence of older women in historical societies could have affected population health by reducing lethality associated with childbearing.Methodology: Using historical life table data from four societies (Denmark, England and Wales, France and Sweden), we test the hypothesis that death rates among women initiating childbearing declined when the societies in which they were embedded included unexpectedly high frequencies of older women. We use time series analysis to measure the extent to which the observed likelihood of death among women aged 20–24 differs from statistically expected values when the number of older women grows or declines.

Results: In three of the four countries examined, we find an inverse relationship between the frequency of post-reproductive females in the population and odds of mortality among females at the peak of childbearing initiation.

Conclusions and Implications: Results suggest that the presence of older women in a population may enhance population health by reducing mortality among women who face high risk of maternal death, although additional research is needed to determine if this relationship is causal.

ISEMPH 2017 Program

ISEMPH 2017 Program

The program for the 2017 ISEMPH meeting in Groningen is below.
An html version with abstracts linked is available here.
A pdf version ISEMPH2017Program.
Abstracts are published here ISEMPH 2017 abstracts

Friday, 18 August






Publications committee meeting

Randolph Nesse

Round Room


Outreach and education committee meeting

Joe Alcock, Michelle Blyth

Round Room


Directors meeting & students meeting

Randolph Nesse

Round Room


Program committee meeting

Frank Rühli

Room 4


Official opening by the Dean of the medical school

Joëls, Marian Intro: Randolph Nesse

Blue Room


Keynote 1: Adaptation to critical illness – a conserved approach that is increasingly appreciated

Singer, Mervyn Intro: Robert Perlman

Blue room


Keynote 2: Maternal capital and the inter- generational transmission of health and disease

Wells, Jonathan Intro: Alejandra Nuñez de la Mora

Blue room


Evening reception & walking dinner

Fountain Patio

Saturday, 19 August


Royal College of Psychiatrists Interest Group Meeting 12 Jan, 2018

Royal College of Psychiatrists Interest Group Meeting 12 Jan, 2018

Second Symposium of the Evolutionary Psychiatry Special Interest Group (EPSIG) 12 January 2018
Royal College of Psychiatrists 21 Prescot Street London E1   Book online now 

EPSIG Newsletter available here




Registration and coffee


Dr Riadh Abed EPSIG Chair


Morning Session
Chair: Professor George Ikkos


Evolutionary Models of Mental Disorders (I) ADHD
Dr Annie Swanepoel




Keynote: What Clinicians Can Learn from Evolutionary Psychiatry
Professor Alfonso Troisi




Evolutionary Models of Mental Disorders (II) Eating Disorders
Dr Riadh Abed






Afternoon Session: Chair: Dr David Geaney


Keynote: An Evolutionary Account of Brain Laterality
Dr Iain McGilchrist




Keynote: Life History Theory: A Framework for the Understanding of Personality Disorder
Professor Martin Brüne




Coffee Break


Evolutionary Models of Mental Disorder (III): The Addictions
Dr Paul St John-Smith




General Discussion and Close


This meeting qualifies for 6 CPD points subject to peer group approval (CPD Certificates will be issued at the end of the meeting)

A conference dinner will be held at 7pm on 12 January. This is optional and is booked separately.