Professionell beraten: Kompetenzprofil für Beratende in Bildung, Beruf und Beschäftigung

The competences of counsellors are a central aspect of professionalism and guidance and counselling quality. Alongside the BeQu standards, the competence profile defines the prerequisites for the professional completion of counselling-specific requirements. It allows counsellors to assess their own competences and defines areas in need of improvement. For counselling providers, the competence profile can be used as a tool for personnel selection and development. Training and further education providers can use the profile as a frame for orientation to develop counselling-specific qualification programmes and curricula. Policy-makers and administrators can use it as a tool for recognising professional counselling competence and for estimating required resources.Die Kompetenzen der Beraterinnen und Berater stellen einen zentralen Aspekt von Professionalität und Beratungsqualität dar. Parallel zu den BeQu-Standards definiert das Kompetenzprofil die Voraussetzungen zur professionellen Bewältigung beratungsspezifischer Anforderungen. Damit können Beratende ihre Kompetenzen einschätzen und weiterentwickeln. Beratungsanbietern dient das Profil als Orientierungshilfe bei der Personalauswahl und Personalentwicklung. Anbietern von Aus- und Weiterbildungen bietet es einen Orientierungsrahmen für die Entwicklung beratungsspezifischer Qualifizierungsprogramme und Curricula. Entscheidungsträger in Politik und Verwaltung hilft es, professionelle Beratungskompetenz zu erkennen und die dafür erforderlichen Ressourcen einzuschätzen

AXL Is a Driver of Stemness in Normal Mammary Gland and Breast Cancer

The receptor tyrosine kinase AXL is associated with epithelial plasticity in several solid tumors including breast cancer and AXL-targeting agents are currently in clinical trials. We hypothesized that AXL is a driver of stemness traits in cancer by co-option of a regulatory function normally reserved for stem cells. AXL-expressing cells in human mammary epithelial ducts co-expressed markers associated with multipotency, and AXL inhibition abolished colony formation and self-maintenance activities while promoting terminal differentiation in vitro. Axl-null mice did not exhibit a strong developmental phenotype, but enrichment of Axl + cells was required for mouse mammary gland reconstitution upon transplantation, and Axl-null mice had reduced incidence of Wnt1-driven mammary tumors. An AXL-dependent gene signature is a feature of transcriptomes in basal breast cancers and reduced patient survival irrespective of subtype. Our interpretation is that AXL regulates access to epithelial plasticity programs in MaSCs and, when co-opted, maintains acquired stemness in breast cancer cells

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)

An amendment to this paper has been published and can be accessed via a link at the top of the paper

Whole-genome sequencing of patients with rare diseases in a national health system

Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare