Medizinische GenetikPub Date : 2025-07-17eCollection Date: 2025-07-01DOI: 10.1515/medgen-2025-2020
{"title":"Protokoll der 37. ordentlichen Mitgliederversammlung der Deutschen Gesellschaft für Humangenetik am 03.04.2025 anlässlich der 35. GfH-Jahrestagung in Innsbruck, 02.-04.04.2025.","authors":"","doi":"10.1515/medgen-2025-2020","DOIUrl":"https://doi.org/10.1515/medgen-2025-2020","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"235-243"},"PeriodicalIF":1.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12278365/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692357","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}
Medizinische GenetikPub Date : 2025-07-17eCollection Date: 2025-07-01DOI: 10.1515/medgen-2025-2023
{"title":"Save the Date - BVDH Herbsttagung 2025.","authors":"","doi":"10.1515/medgen-2025-2023","DOIUrl":"10.1515/medgen-2025-2023","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"253"},"PeriodicalIF":1.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268245/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676439","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}
Medizinische GenetikPub Date : 2025-07-17eCollection Date: 2025-07-01DOI: 10.1515/medgen-2025-2013
Martin Mensah
{"title":"Berlin: Prof. Dr. med. Martin A. Mensah - Humangenetik am Helios Klinikum Berlin-Buch und Professur für Humangenetik an der MSB Medical School Berlin.","authors":"Martin Mensah","doi":"10.1515/medgen-2025-2013","DOIUrl":"10.1515/medgen-2025-2013","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"207"},"PeriodicalIF":1.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268242/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676432","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}
Medizinische GenetikPub Date : 2025-07-17eCollection Date: 2025-07-01DOI: 10.1515/medgen-2025-2024
Jørgen Magnus, Jonas Käsbach
{"title":"A clinician's guide to AAV production - How manufacturing platforms shape vector properties.","authors":"Jørgen Magnus, Jonas Käsbach","doi":"10.1515/medgen-2025-2024","DOIUrl":"10.1515/medgen-2025-2024","url":null,"abstract":"<p><p>Adeno-associated virus (AAV) has become the leading viral vector for <i>in vivo</i> gene therapy. This review examines how different manufacturing methods, from mammalian to insect cell-based systems, influence AAV vector characteristics. Though each platform generates vectors with distinct molecular signatures affecting purity, safety and potency, clinical outcomes remain consistent across production platforms. Understanding the nuances of these platforms will still provide valuable insight for clinicians overseeing AAV-based therapy.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"169-177"},"PeriodicalIF":1.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268253/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676429","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}
Medizinische GenetikPub Date : 2025-04-08eCollection Date: 2025-06-01DOI: 10.1515/medgen-2025-2006
Schulze-Bahr, Sven Dittmann, Janis Kerkering
{"title":"Cardiac arrhythmias and genetics - current stage.","authors":"Schulze-Bahr, Sven Dittmann, Janis Kerkering","doi":"10.1515/medgen-2025-2006","DOIUrl":"10.1515/medgen-2025-2006","url":null,"abstract":"<p><p>Recently, cardiogenetics is a rapidly developing medical section combining cardiovascular and genetic knowledge. Inherited forms of cardiac arrhythmias are typically rare diseases (prevalence < 1:2,000) and may occur in a sporadic or familial manner, here mostly in an autosomal dominant form. They are also called \"primary electrical heart disorders\" due to the ECG-based diagnosis and mainly normal cardiac imaging, i.e. absence of structural heart abnormalities. Their genetic basis is heterogeneous, still incomplete (variant detection rates between 10 % and 80 %) and mostly related to cardiac ion channel genes and related regulatory units. So far, the utility of polygenic risk scores is under current evaluation. Clinical disease expressivity may range from non-penetrance to high penetrance, indicating the importance of additional clinical modifiers (genetic and non-genetic) that modulate phenotypic signs. Occurrence of symptoms, as typical for other ion channel disorders (e.g., epilepsy), also depends on exposure to specific and often genotype-related environmental triggers, that enhance the occurrence of clinically relevant and potentially life-threatening arrhythmias. In the following, the main focus is on cardiac ion channel disorders, with regard to some general genetic aspects and current guidelines indicating the value of genotyping to support early disease recognition, confirmation of diagnosis and prevention of severe cardiac events.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 2","pages":"125-136"},"PeriodicalIF":1.1,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12143196/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144250735","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}
Medizinische GenetikPub Date : 2025-04-08eCollection Date: 2025-06-01DOI: 10.1515/medgen-2025-2005
Constanze Schmidt, Felix Wiedmann
{"title":"Disease mechanism and novel drug therapies for atrial fibrillation.","authors":"Constanze Schmidt, Felix Wiedmann","doi":"10.1515/medgen-2025-2005","DOIUrl":"10.1515/medgen-2025-2005","url":null,"abstract":"<p><p>Atrial fibrillation (AF), the most common sustained cardiac arrhythmia, affects over 3 % of adults globally, increasing risks for stroke, heart failure, and cognitive decline. Early rhythm control shows promise in improving AF prognosis, and catheter ablation remains an effective, safe option, especially for paroxysmal AF. However, high recurrence rates with antiarrhythmic drugs and ablation persist, particularly in cases of persistent AF. Emerging research on molecular mechanisms has led to innovative therapeutic strategies targeting these pathways, offering hope for more effective AF management. This review explores recent insights into the complex pathophysiology of AF, with a particular focus on ion channel dysfunction, calcium mishandling, oxidative stress, and fibrosis. It further considers how these factors will inspire new therapeutic options.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 2","pages":"147-154"},"PeriodicalIF":1.1,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11976400/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144008343","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}
Medizinische GenetikPub Date : 2025-04-08eCollection Date: 2025-06-01DOI: 10.1515/medgen-2025-2010
Martin Zenker, Cordula M Wolf
{"title":"Cardiovascular aspects of Noonan syndrome and related disorders.","authors":"Martin Zenker, Cordula M Wolf","doi":"10.1515/medgen-2025-2010","DOIUrl":"10.1515/medgen-2025-2010","url":null,"abstract":"<p><p>Noonan syndrome and other RASopathies constitute an important group of disorders to be considered in the differential diagnosis in individuals with congenital heart defects and hypertrophic cardiomyopathy. The cardiovascular phenotype of RASopathies is complex and comprises a spectrum of abnormalities, including not only congenital defects but also abnormalities affecting the lymphovascular system and other anomalies of the vascular system, which may emerge over the course of an individual's lifetime. Affected individuals typically present with a syndromic phenotype, exhibiting additional physical symptoms outside of the cardiovascular system and neuropsychological deficits. Genetic testing of the established disease genes for RASopathies is an effective method for identifying the underlying genetic variant in the majority of cases. This approach is strongly recommended to facilitate a more precise prognosis and the potential for personalized targeted therapies. Screening for RASopathy-associated gene variants in individuals with isolated CHDs, HCM, or other isolated cardiovascular features outside the NS spectrum appears to have limited clinical utility. However, it should be noted that the RASopathy phenotype may be challenging to discern in cases of mild or oligosymptomatic involvement, or it may be obscured by the presence of severe medical conditions, particularly in very young children.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 2","pages":"113-124"},"PeriodicalIF":1.1,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11976402/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143991405","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}
Medizinische GenetikPub Date : 2025-04-08eCollection Date: 2025-06-01DOI: 10.1515/medgen-2025-2007
Gökhan Yigit, Silke Kaulfuß, Bernd Wollnik
{"title":"Understanding inherited cardiomyopathies: clinical aspects and genetic determinants.","authors":"Gökhan Yigit, Silke Kaulfuß, Bernd Wollnik","doi":"10.1515/medgen-2025-2007","DOIUrl":"10.1515/medgen-2025-2007","url":null,"abstract":"<p><p>Cardiomyopathies (CMs) are a clinically heterogeneous group of cardiovascular diseases characterized by structural and functional abnormalities of the heart muscle in the absence of coronary artery disease, hypertension, valve disease, or congenital heart disease as a leading cause. The phenotypic spectrum of CMs ranges from silent heart failure to symptomatic heart failure and sudden cardiac death, and CMs are one of the leading causes of cardiovascular morbidity worldwide. CMs are highly heritable, although a clear distinction between inherited and acquired forms remains challenging, particularly due to observed incomplete penetrance and variable expressivity of inherited CMs. Based on their specific morphological phenotypes and functional characteristics, CMs can be divided into at least 5 different subgroups: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic cardiomyopathy (ACM), restrictive cardiomyopathy (RCM), and (left ventricular) non-compaction cardiomyopathy (LVNC), which show both clinical as well as genetic overlap. Since the identification of pathogenic variants in <i>MYH7</i> as a genetic cause of HCM in 1990, enormous progress has been made in understanding genetic factors contributing to cardiomyopathies. Currently, over 100 genes have been associated with at least one of the CM subtypes, providing a deeper understanding of the cellular basis of genetic heart failure syndromes, unveiling new insights into the molecular biology of heart function in both health and disease, and, thereby, facilitating the development of novel therapeutic strategies and personalized treatment approaches.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 2","pages":"103-111"},"PeriodicalIF":1.1,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11976403/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144007515","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}