Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients

Inflammatory bowel disease (IBD) is a group of chronic digestive tract inflammatory conditions whose genetic etiology is still poorly understood. The incidence of IBD is particularly high among Ashkenazi Jews. Here, we identify 8 novel and plausible IBD-causing genes from the exomes of 4453 genetically identified Ashkenazi Jewish IBD cases (1734) and controls (2719). Various biological pathway analyses are performed, along with bulk and single-cell RNA sequencing, to demonstrate the likely physiological relatedness of the novel genes to IBD. Importantly, we demonstrate that the rare and high impact genetic architecture of Ashkenazi Jewish adult IBD displays significant overlap with very early onset-IBD genetics. Moreover, by performing biobank phenome-wide analyses, we find that IBD genes have pleiotropic effects that involve other immune responses. Finally, we show that polygenic risk score analyses based on genome-wide high impact variants have high power to predict IBD susceptibility

Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system

Achieving confidence in the causality of a disease locus is a complex task that often requires supporting data from both statistical genetics and clinical genomics. Here we describe a combined approach to identify and characterize a genetic disorder that leverages distantly related patients in a health system and population-scale mapping. We utilize genomic data to uncover components of distant pedigrees, in the absence of recorded pedigree information, in the multi-ethnic BioMe biobank in New York City. By linking to medical records, we discover a locus associated with both elevated genetic relatedness and extreme short stature. We link the gene, COL27A1, with a little-known genetic disease, previously thought to be rare and recessive. We demonstrate that disease manifests in both heterozygotes and homozygotes, indicating a common collagen disorder impacting up to 2% of individuals of Puerto Rican ancestry, leading to a better understanding of the continuum of complex and Mendelian disease

Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients

Inflammatory bowel disease (IBD) is a group of chronic digestive tract inflammatory conditions whose genetic etiology is still poorly understood. The incidence of IBD is particularly high among Ashkenazi Jews. Here, we identify 8 novel and plausible IBD-causing genes from the exomes of 4453 genetically identified Ashkenazi Jewish IBD cases (1734) and controls (2719). Various biological pathway analyses are performed, along with bulk and single-cell RNA sequencing, to demonstrate the likely physiological relatedness of the novel genes to IBD. Importantly, we demonstrate that the rare and high impact genetic architecture of Ashkenazi Jewish adult IBD displays significant overlap with very early onset-IBD genetics. Moreover, by performing biobank phenome-wide analyses, we find that IBD genes have pleiotropic effects that involve other immune responses. Finally, we show that polygenic risk score analyses based on genome-wide high impact variants have high power to predict IBD susceptibility

Adaptive Emotional Expression in Robot-Child Interaction

Expressive behaviour is a vital aspect of human interaction. A model for adaptive emotion expression was developed for the Nao robot. The robot has an internal arousal and va- lence value, which are in uenced by the emotional state of its interaction partner and emotional occurrences such as win- ning a game. It expresses these emotions through its voice, posture, whole body poses, eye colour and gestures. An ex- periment with 18 children (mean age 9) and two Nao robots was conducted to study the in uence of adaptive emotion expression on the interaction behaviour and opinions of chil- dren. In a within-subjects design the children played a quiz with both an a ective robot using the model for adaptive emotion expression and a non-a ective robot without this model. The a ective robot reacted to the emotions of the child using the implementation of the model, the emotions of the child were interpreted by aWizard of Oz. The dependent variables, namely the behaviour and opinions of the children, were measured through video analysis and questionnaires. The results show that children react more expressively and more positively to a robot which adaptively expresses itself than to a robot which does not. The feedback of the children in the questionnaires further suggests that showing emotion through movement is considered a very positive trait for a robot. From their positive reactions we can conclude that children enjoy interacting with a robot which adaptively expresses itself through emotion and gesture more than with a robot which does not do this

Profiles in Teachers’ Value-Based Tensions in Senior Secondary Vocational Education and Training.

Context: With an increase in cultural diversity in many countries, schools and teacher educators are grappling with the question of what this diversity might bring in vocational education, and how teachers can be prepared to work with this diversity. In order to train and empower teachers who experience tensions because of culturally diverse student populations, it is useful to know whether teachers do have different needs to work with this diversity. This study reports on profiles in teachers' experience of value-based tensions (professional ethics and stance, diversity and communality, respect, personal autonomy, and justice) teaching in culturally diverse classes of Senior Secondary Vocational Education and Training (SSVET)

Teachers self-perceived multicultural competence and their experience of culturally loaden value-based tensions in Senior Secondary Vocational Education

During the last decades there has been an enormous increase in the number of students with different cultural backgrounds in schools in The Netherlands, as in many Western countries. School teachers are required to have the competences to handle such cultural differences. The present study collected data on these variables via a self-report questionnaire administered to teachers of culturally diverse Senior Secondary Vocational Education and Training (SSVET) schools. In total, 898 teachers from 20 SSVET schools completed the survey. Teachers experienced tensions from relatively limited to fairly frequent. Regarding their competencies, teachers attributed them-selves a positive attitude towards multicultural education, perceived to have some degree of multicultural teaching skills and perceived their degree of multicultural education know-ledge neutral. Teachers’ self-perceived multicultural knowledge, attitudes and skills had varied associations with the different experienced value-based tensions. Whereas the degree of self-perceived skill showed a positive relationship with most experienced tensions, attitudes and knowledge showed a negative relationship. These results suggest that perceiving to have more skills leads to experiencing more tensions. Teachers in the lower levels of SSVET, younger teachers, teachers in schools with a larger population of teachers from migrant backgrounds, teachers with more training and teachers in need of training experienced more tensions. Implications and suggestions for future research are discussed