So far in this course we have dealt entirely with the evolution of characters that are controlled by simple Mendelian inheritance at a single locus. There are notes on the course website about gametic disequilibrium and how allele frequencies change at two loci simultaneously, but we didn’t discuss them. In every example we’ve considered we’ve imagined that we could understand something about evolution by examining the evolution of a single gene. That’s the domain of classical population genetics. For the next few weeks we’re going to be exploring a field that’s actually older than classical population genetics, although the approach we’ll be taking to it involves the use of population genetic machinery. If you know a little about the history of evolutionary biology, you may know that after the rediscovery of Mendel’s work in 1900 there was a heated debate between the “biometricians” (e.g., Galton and Pearson) and the “Mendelians” (e.g., de Vries, Correns, Bateson, and Morgan). Biometricians asserted that the really important variation in evolution didn’t follow Mendelian rules. Height, weight, skin color, and similar traits seemed to

Human biochemical genetics

I have developed "tennis elbow" from lugging this book around the past four weeks, but it is worth the pain, the effort, and the aspirin. It is also worth the (relatively speaking) bargain price. Including appendixes, this book contains 894 pages of text. The entire panorama of the neural sciences is surveyed and examined, and it is comprehensive in its scope, from genomes to social behaviors. The editors explicitly state that the book is designed as "an introductory text for students of biology, behavior, and medicine," but it is hard to imagine any audience, interested in any fragment of neuroscience at any level of sophistication, that would not enjoy this book. The editors have done a masterful job of weaving together the biologic, the behavioral, and the clinical sciences into a single tapestry in which everyone from the molecular biologist to the practicing psychiatrist can find and appreciate his or

Principles of Neural Science

https://bic.berkeley.edu/sites/default/files/Rossi_09_TMS%20safety%20review.pdf

Safety, ethical considerations, and application guidelines for the use of transcranial magnetic stimulation in clinical practice and research

The reference human genome sequence set the stage for studies of genetic variation and its association with human disease, but epigenomic studies lack a similar reference. To address this need, the NIH Roadmap Epigenomics Consortium generated the largest collection so far of human epigenomes for primary cells and tissues. Here we describe the integrative analysis of 111 reference human epigenomes generated as part of the programme, profiled for histone modification patterns, DNA accessibility, DNA methylation and RNA expression. We establish global maps of regulatory elements, define regulatory modules of coordinated activity, and their likely activators and repressors. We show that disease- and trait-associated genetic variants are enriched in tissue-specific epigenomic marks, revealing biologically relevant cell types for diverse human traits, and providing a resource for interpreting the molecular basis of human disease. Our results demonstrate the central role of epigenomic information for understanding gene regulation, cellular differentiation and human disease.

Integrative analysis of 111 reference human epigenomes

The insula is a brain structure implicated in disparate cognitive, affective, and regulatory functions, including interoceptive awareness, emotional responses, and empathic processes. While classically considered a limbic region, recent evidence from network analysis suggests a critical role for the insula, particularly the anterior division, in high-level cognitive control and attentional processes. The crucial insight and view we present here is of the anterior insula as an integral hub in mediating dynamic interactions between other large-scale brain networks involved in externally oriented attention and internally oriented or self-related cognition. The model we present postulates that the insula is sensitive to salient events, and that its core function is to mark such events for additional processing and initiate appropriate control signals. The anterior insula and the anterior cingulate cortex form a “salience network” that functions to segregate the most relevant among internal and extrapersonal stimuli in order to guide behavior. Within the framework of our network model, the disparate functions ascribed to the insula can be conceptualized by a few basic mechanisms: (1) bottom–up detection of salient events, (2) switching between other large-scale networks to facilitate access to attention and working memory resources when a salient event is detected, (3) interaction of the anterior and posterior insula to modulate autonomic reactivity to salient stimuli, and (4) strong functional coupling with the anterior cingulate cortex that facilitates rapid access to the motor system. In this manner, with the insula as its integral hub, the salience network assists target brain regions in the generation of appropriate behavioral responses to salient stimuli. We suggest that this framework provides a parsimonious account of insula function in neurotypical adults, and may provide novel insights into the neural basis of disorders of affective and social cognition.

/pdf/saliency-switching-attention-and-control-a-network-model-of-4nzu8lqybn.pdf

Saliency, switching, attention and control: a network model of insula function

Abstract Background and Hypothesis While literature indicates that culture modulates phenomenological characteristics of hallucinations in schizophrenia-spectrum disorders, little is known about the extent culture modulates these characteristics in nonclinical samples. Study Design We compared lifetime prevalence, age of onset, and phenomenology of hallucinations as assessed with the Questionnaire for Psychotic Experiences between samples of nonclinical participants used from the Netherlands (N = 2999) and Qatar (N = 2999). While participant recruitment differed between the 2 countries, the samples were relatively equal in terms of demographic factors. Study Results Our findings indicate that the lifetime prevalence of tactile and olfactory hallucinations are the same across countries. However, the prevalence of auditory hallucinations (AH) and visual hallucinations (VH) were twice as high in the Dutch sample. The reported age of onset for auditory and tactile hallucinations was younger for the Dutch sample. Findings from the measurement invariance supported cross-cultural comparisons with exception for duration, distress, and insight. Qatar’s and Dutch participants reported similar valence and extent of interaction with AH and VH. However, compared to those in the Netherlands, participants from Qatar reported significantly more impact on daily functioning and a higher prevalence of receiving commands from hallucinations in the past week. Conclusions While AH and VH were more often reported in the Dutch sample, participants in Qatar generally had higher mean factor scores for past week AH and VH than in the Netherlands. The phenomenology of hallucinations in the Qatar sample was of greater clinical relevance, with potentially important implications for early screening and prevention.

/pdf/cross-cultural-differences-in-hallucinations-a-comparison-n8na6t09.pdf

Cross-cultural Differences in Hallucinations: A Comparison Between Middle Eastern and European Community-Based Samples

Natural language processing (NLP) tools are increasingly used to quantify semantic anomalies in schizophrenia. Automatic speech recognition (ASR) technology, if robust enough, could significantly speed up the NLP research process. In this study, we assessed the performance of a state-of-the-art ASR tool and its impact on diagnostic classification accuracy based on a NLP model. We compared ASR to human transcripts quantitatively (Word Error Rate (WER)) and qualitatively by analyzing error type and position. Subsequently, we evaluated the impact of ASR on classification accuracy using semantic similarity measures. Two random forest classifiers were trained with similarity measures derived from automatic and manual transcriptions, and their performance was compared. The ASR tool had a mean WER of 30.4%. Pronouns and words in sentence-final position had the highest WERs. The classification accuracy was 76.7% (sensitivity 70%; specificity 86%) using automated transcriptions and 79.8% (sensitivity 75%; specificity 86%) for manual transcriptions. The difference in performance between the models was not significant. These findings demonstrate that using ASR for semantic analysis is associated with only a small decrease in accuracy in classifying schizophrenia, compared to manual transcripts. Thus, combining ASR technology with semantic NLP models qualifies as a robust and efficient method for diagnosing schizophrenia. 

https://doi.org/10.1016/j.psychres.2023.115252

Combining automatic speech recognition with semantic natural language processing in schizophrenia

Editorial: Racial and ethnic disparities in research and treatment of people with schizophrenia.

A long-standing topic of interest in human neurosciences is the understanding of the neurobiology underlying human cognition. Less commonly considered is to what extent such systems may be shared with other species. We examined individual variation in brain connectivity in the context of cognitive abilities in chimpanzees (n = 45) and humans in search of a conserved link between cognition and brain connectivity across the two species. Cognitive scores were assessed on a variety of behavioral tasks using chimpanzee- and human-specific cognitive test batteries, measuring aspects of cognition related to relational reasoning, processing speed, and problem solving in both species. We show that chimpanzees scoring higher on such cognitive skills display relatively strong connectivity among brain networks also associated with comparable cognitive abilities in the human group. We also identified divergence in brain networks that serve specialized functions across humans and chimpanzees, such as stronger language connectivity in humans and relatively more prominent connectivity between regions related to spatial working memory in chimpanzees. Our findings suggest that core neural systems of cognition may have evolved before the divergence of chimpanzees and humans, along with potential differential investments in other brain networks relating to specific functional specializations between the two species.

Iris E. C. Sommer

Papers

Cross-cultural Differences in Hallucinations: A Comparison Between Middle Eastern and European Community-Based Samples

Combining automatic speech recognition with semantic natural language processing in schizophrenia

Editorial: Racial and ethnic disparities in research and treatment of people with schizophrenia.

Human and chimpanzee shared and divergent neurobiological systems for general and specific cognitive brain functions.

Na tien jaar eindelijk minder last van stemmen : COMET bij auditieve verbale hallucinaties (Artikelen)