Medizinische Genetik最新文献

{"title":"Akademie Humangenetik","authors":"","doi":"10.1515/medgen-2023-2053","DOIUrl":"https://doi.org/10.1515/medgen-2023-2053","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"25 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139209865","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Syndromtag 2023 in Aachen vom 22.–23. September","authors":"","doi":"10.1515/medgen-2023-2048","DOIUrl":"https://doi.org/10.1515/medgen-2023-2048","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"49 1","pages":""},"PeriodicalIF":1.1,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139210194","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical applications and challenges in the field of extracellular vesicles","authors":"Jillian W.P. Bracht, R. Nieuwland, Agustin Enciso-Martinez","doi":"10.1515/medgen-2023-2062","DOIUrl":"https://doi.org/10.1515/medgen-2023-2062","url":null,"abstract":"Abstract Body fluids contain cell-derived particles called extracellular vesicles (EVs). EVs are released by cells and are present in all body fluids (i. e. liquid biopsies). EVs contribute to physiology and pathology and offer a plethora of potential clinical applications, ranging from biomarkers to therapeutic applications. In this manuscript we provide an overview of this new and rapidly growing research field, along with its challenges and opportunities.","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"25 1","pages":"251 - 258"},"PeriodicalIF":1.1,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139211919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The changing face of circulating tumor DNA (ctDNA) profiling: Factors that shape the landscape of methodologies, technologies, and commercialization","authors":"A. Bronkhorst, Stefan Holdenrieder","doi":"10.1515/medgen-2023-2065","DOIUrl":"https://doi.org/10.1515/medgen-2023-2065","url":null,"abstract":"Abstract Liquid biopsies, in particular the profiling of circulating tumor DNA (ctDNA), have long held promise as transformative tools in cancer precision medicine. Despite a prolonged incubation phase, ctDNA profiling has recently experienced a strong wave of development and innovation, indicating its imminent integration into the cancer management toolbox. Various advancements in mutation-based ctDNA analysis methodologies and technologies have greatly improved sensitivity and specificity of ctDNA assays, such as optimized preanalytics, size-based pre-enrichment strategies, targeted sequencing, enhanced library preparation methods, sequencing error suppression, integrated bioinformatics and machine learning. Moreover, research breakthroughs have expanded the scope of ctDNA analysis beyond hotspot mutational profiling of plasma-derived apoptotic, mono-nucleosomal ctDNA fragments. This broader perspective considers alternative genetic features of cancer, genome-wide characterization, classical and newly discovered epigenetic modifications, structural variations, diverse cellular and mechanistic ctDNA origins, and alternative biospecimen types. These developments have maximized the utility of ctDNA, facilitating landmark research, clinical trials, and the commercialization of ctDNA assays, technologies, and products. Consequently, ctDNA tests are increasingly recognized as an important part of patient guidance and are being implemented in clinical practice. Although reimbursement for ctDNA tests by healthcare providers still lags behind, it is gaining greater acceptance. In this work, we provide a comprehensive exploration of the extensive landscape of ctDNA profiling methodologies, considering the multitude of factors that influence its development and evolution. By illuminating the broader aspects of ctDNA profiling, the aim is to provide multiple entry points for understanding and navigating the vast and rapidly evolving landscape of ctDNA methodologies, applications, and technologies.","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"50 1","pages":"201 - 235"},"PeriodicalIF":1.1,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139213196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tagungsbericht ESHG Jahrestagung 10.06. bis 13.06.2023 in Glasgow: The Future of Genetics is now.","authors":"Ronja Hollstein","doi":"10.1515/medgen-2023-2041","DOIUrl":"10.1515/medgen-2023-2041","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"189-190"},"PeriodicalIF":0.8,"publicationDate":"2023-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842560/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44118174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Classic genetic and hormonal switches during fetal sex development and beyond.","authors":"Paul-Martin Holterhus, Alexandra Kulle, Hauke Busch, Malte Spielmann","doi":"10.1515/medgen-2023-2036","DOIUrl":"10.1515/medgen-2023-2036","url":null,"abstract":"<p><p>Critical genetic and hormonal switches characterize fetal sex development in humans. They are decisive for gonadal sex determination and subsequent differentiation of the genital and somatic sex phenotype. Only at the first glace these switches seem to behave like the dual 0 and 1 system in computer sciences and lead invariably to either typically male or female phenotypes. More recent data indicate that this model is insufficient. In addition, in case of distinct mutations, many of these switches may act variably, causing a functional continuum of alterations of gene functions and -dosages, enzymatic activities, sex hormone levels, and sex hormone sensitivity, giving rise to a broad clinical spectrum of biological differences of sex development (DSD) and potentially diversity of genital and somatic sex phenotypes. The gonadal anlage is initially a bipotential organ that can develop either into a testis or an ovary. <i>Sex-determining region Y (SRY)</i> is the most important upstream switch of gonadal sex determination inducing <i>SOX9</i> further downstream, leading to testicular Sertoli cell differentiation and the repression of ovarian pathways. If <i>SRY</i> is absent (virtually \"switched off\"), e. g., in 46,XX females, <i>RSPO1, WNT4, FOXL2</i>, and other factors repress the male pathway and promote ovarian development. Testosterone and its more potent derivative, dihydrotestosterone (DHT) as well as AMH, are the most important upstream hormonal switches in phenotypic sex differentiation. Masculinization of the genitalia, i. e., external genital midline fusion forming the scrotum, growth of the genital tubercle, and Wolffian duct development, occurs in response to testosterone synthesized by steroidogenic cells in the testis. Müllerian ducts will not develop into a uterus and fallopian tubes in males due to Anti-Müllerian-Hormone (AMH) produced by the Sertoli cells. The functionality of these two hormone-dependent switches is ensured by their corresponding receptors, the intracellular androgen receptor (AR) and the transmembrane AMH type II receptor. The absence of high testosterone and high AMH is crucial for anatomically female genital development during fetal life. Recent technological advances, including single-cell and spatial transcriptomics, will likely shed more light on the nature of these molecular switches.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"163-171"},"PeriodicalIF":0.8,"publicationDate":"2023-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842585/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45389862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The past and future of \"sex genes\".","authors":"Christoph Rehmann-Sutter, Nadine Hornig, Birgit Stammberger, Heiko Stoff","doi":"10.1515/medgen-2023-2040","DOIUrl":"10.1515/medgen-2023-2040","url":null,"abstract":"<p><p>Much later than the discovery of \"sex chromosomes\" and of \"sex hormones\", genetics started delivering detailed explanations of sex-determining developmental pathways. Despite increasing knowledge of biological processes, concepts and theories about sex development are never based on facts alone. There are inevitable entanglements of biological description and changing cultural assumptions and they play a key role in how sex genes are framed and interpreted in biological research. In this review article we first focus on the early 20th century biology that worked in a hormone-based paradigm. Genetic explanations emerged later, first on the basis of sex chromosomes; starting in the 1980s, on the basis of genes. We highlight orthodox views of female development, which saw the default pathway of human sex development. We will show how recent findings in biology challenge it. The article discusses the interactions of causal claims in science with cultural assumption about gender and outlines three influential strands of critical feminist philosophy of science: the critique of genetic determinism and genetic essentialism, of dualist assumptions, and of an androcentric bias in the conception of research strategies. In the final section we suggest key agenda points of future genetic research on sex determination.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"153-161"},"PeriodicalIF":0.8,"publicationDate":"2023-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842558/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45748594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is sex still binary?","authors":"Christoph Rehmann-Sutter, Olaf Hiort, Ulrike M Krämer, Lisa Malich, Malte Spielmann","doi":"10.1515/medgen-2023-2039","DOIUrl":"10.1515/medgen-2023-2039","url":null,"abstract":"<p><p>In this perspective article we discuss the limitations of sex as a binary concept and how it is challenged by medical developments and a better understanding of gender diversity. Recent data indicate that sex is not a simple binary classification based solely on genitalia at birth or reproductive capacity but encompasses various biological characteristics such as chromosomes, hormones, and secondary sexual characteristics. The existence of individuals with differences in sex development (DSD) who do not fit typical male or female categories further demonstrates the complexity of sex. We argue that the belief that sex is strictly binary based on gametes is insufficient, as there are multiple levels of sex beyond reproductivity. We also explore the role of sex in sex determination, gene expression, brain development, and behavioural patterns and emphasize the importance of recognizing sex diversity in personalized medicine, as sex can influence disease presentation, drug response, and treatment effectiveness. Finally, we call for an inter- and transdisciplinary approach to study sex diversity and develop new categories and methodologies that go beyond a binary model.</p>","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"173-180"},"PeriodicalIF":0.8,"publicationDate":"2023-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842549/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48822210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of Genetics in Sex Diversity.","authors":"Olaf Hiort, Ulrike Krämer, Lisa Malich, Christoph Rehmann-Sutter, Malte Spielmann","doi":"10.1515/medgen-2023-2035","DOIUrl":"10.1515/medgen-2023-2035","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"151-152"},"PeriodicalIF":0.8,"publicationDate":"2023-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842575/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44596232","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Protokoll der 33. Ordentlichen Mitgliederversammlung des VPAH e.V. : <b>Kassel, den 15.03.2023, 14:00–15:30 Uhr</b>.","authors":"Caren Walter","doi":"10.1515/medgen-2023-2034","DOIUrl":"10.1515/medgen-2023-2034","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":"35 1","pages":"195-197"},"PeriodicalIF":0.8,"publicationDate":"2023-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842546/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49166380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}