Genome-wide analysis identifies 12 loci influencing human reproductive behavior.

The genetic architecture of human reproductive behavior-age at first birth (AFB) and number of children ever born (NEB)-has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, very few genetic loci have been identified, and the underlying mechanisms of AFB and NEB are poorly understood. We report a large genome-wide association study of both sexes including 251,151 individuals for AFB and 343,072 individuals for NEB. We identified 12 independent loci that are significantly associated with AFB and/or NEB in a SNP-based genome-wide association study and 4 additional loci associated in a gene-based effort. These loci harbor genes that are likely to have a role, either directly or by affecting non-local gene expression, in human reproduction and infertility, thereby increasing understanding of these complex traits

Training Teachers to Become Effective Life Design \u2018Agents of Change\u2019: Suggestions and Directions for Future Actions

Several efforts have been devoted in the last decades to identify the essential skills, knowledge, attitudes and values that characterize inclusive teachers and to develop training programmes and curricula that take all this into account. According to the UN 2030 Agenda for sustainable development, teachers are also called to renew their visions and skills in order to provide career education to all their students, thus promoting positive development and reducing the risks of complex transitions. After reviewing the most relevant literature, this chapter deals basically with the question of the relevance and the feasibility of training teachers to become effective life designing agents of change and prevention. Conceptual bases currently relevant are described together with possible steps and actions suggested by past and recent Italian experiences for positively addressing these issues

Career Guidance for Children and Youth with Disabilities

The chapter examines the role of career guidance with children and youth with disabilities from a full-inclusion perspective. The analysis started with the description of global challenges, which define the coordinates that frame the contexts where persons and societies evolve, highlighting the effects of globalisation, technological progress, demographic change, flexibility, global financial crisis, and neoliberalism on the current job market. Then, based on Life Design paradigm and Positive Youth Development paradigm, the relevance of children\u2019s career development was discussed and the need for career interventions in early childhood to offer growing opportunities for all children and youth was emphasised. Lastly, particular attention was given to examples of macro-, meso- and micro-level actions that can be implemented to promote children\u2019s career guidance in an inclusive perspective

Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection

13noAge-related hearing loss (ARHL) is the most common sensory disorder in the elderly. Although not directly life threatening, it contributes to loss of autonomy and is associated with anxiety, depression and cognitive decline. To search for genetic risk factors underlying ARHL, a large whole-genome sequencing (WGS) approach has been carried out in a cohort of 212 cases and controls, both older than 50 years to select genes characterized by a burden of variants specific to cases or controls. Accordingly, the total variation load per gene was compared and two groups were detected: 375 genes more variable in cases and 371 more variable in controls. In both cases, Gene Ontology analysis showed that the largest enrichment for biological processes (fold > 5, p-value = 0.042) was the "sensory perception of sound", suggesting cumulative genetic effects were involved. Replication confirmed 141 genes, while additional analysis based on natural selection led to a prioritization of 21 genes. The majority of them (20 out of 21) showed positive expression in mouse cochlea cDNA and were associated with two functional pathways. Among them, two genes were previously associated with hearing (CSMD1 and PTRPD) and re-sequenced in a large Italian cohort of ARHL patients (N = 389). Results led to the identification of six coding variants not detected in cases so far, suggesting a possible protective role, which requires investigation. In conclusion, we show that this multistep strategy (WGS, selection, expression, pathway analysis and targeted re-sequencing) can provide major insights into the molecular characterization of complex diseases such as ARHL.openopenVuckovic, Dragana; Mezzavilla, Massimo; Cocca, Massimiliano; Morgan, Anna; Brumat, Marco; Catamo, Eulalia; Concas, Maria Pina; Biino, Ginevra; Franzè, Annamaria; Ambrosetti, Umberto; Pirastu, Mario; Gasparini, Paolo; Girotto, GiorgiaVuckovic, Dragana; Mezzavilla, Massimo; Cocca, Massimiliano; Morgan, Anna; Brumat, Marco; Catamo, Eulalia; Concas, Maria Pina; Biino, Ginevra; Franzè, Annamaria; Ambrosetti, Umberto; Pirastu, Mario; Gasparini, Paolo; Girotto, Giorgi