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Medizinische Genetik最新文献

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Current and future diagnostics of congenital heart disease (CHD). 先天性心脏病（CHD）的当前和未来诊断。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-04-08 eCollection Date: 2025-06-01 DOI: 10.1515/medgen-2025-2008
Marc-Phillip Hitz, Gregor Dombrowsky, Nico Melnik, Chiara Vey
{"title":"Current and future diagnostics of congenital heart disease (CHD).","authors":"Marc-Phillip Hitz, Gregor Dombrowsky, Nico Melnik, Chiara Vey","doi":"10.1515/medgen-2025-2008","DOIUrl":"10.1515/medgen-2025-2008","url":null,"abstract":"<p><p>Congenital heart defects (CHD) are one of the most common anomalies found among live births and represent a complex multifactorial condition. Given that more than 90 % of cases survive due to improved early treatment options (e.g., catheter intervention, surgical procedure, and improved intensive care), genotype-informed patient follow-up should consider lifelong treatment considering different types of comorbidities. Unfortunately, a thorough genetic workup is only offered to a minority of CHD patients. However, a comprehensive understanding of the genetic underpinnings combined with in-depth phenotyping would strengthen our knowledge regarding the impact of environmental (e.g., pre-gestational diabetes) and genetic causes ranging from aneuploidies to single variants and more complex inheritance patterns on early heart development. Therefore, comprehensive genetic analysis in these patients is an essential way of predicting the prognosis and recurrence risk in families and ultimately improving patients' quality of life due to better therapeutic options. In this review, we examine the different types of variants and genes of different molecular genetics techniques to assess the diagnostic yield in different CHD sub-phenotypes. Given the complex inheritance pattern observed in CHD, we also consider possible future methods and frameworks to improve diagnostics and allow for better genotype-phenotype correlation in this patient group. Predicting recurrence risk and prognosis in CHD patients will ultimately allow for better treatment and lifelong therapeutic outcomes for CHD patients.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 2","pages":"95-102"},"PeriodicalIF":1.1,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11976401/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043626","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}
引用次数: 0
Corrigendum to: Long-term experience with gene augmentation therapy in patients with inherited retinal disease associated with biallelic mutations in RPE65. 对与RPE65双等位基因突变相关的遗传性视网膜疾病患者进行基因增强治疗的长期经验的更正。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-04-08 eCollection Date: 2025-06-01 DOI: 10.1515/medgen-2025-2012
Birgit Lorenz
{"title":"Corrigendum to: Long-term experience with gene augmentation therapy in patients with inherited retinal disease associated with biallelic mutations in RPE65.","authors":"Birgit Lorenz","doi":"10.1515/medgen-2025-2012","DOIUrl":"10.1515/medgen-2025-2012","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1515/medgen-2024-2067.].</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 2","pages":"157"},"PeriodicalIF":1.1,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11976398/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144055164","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}
引用次数: 0
S1-Leitlinie zum "pränatalen Schnelltest". “S1：产前快速检测”。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-04-08 eCollection Date: 2025-06-01 DOI: 10.1515/medgen-2025-2011
{"title":"S1-Leitlinie zum \"pränatalen Schnelltest\".","authors":"","doi":"10.1515/medgen-2025-2011","DOIUrl":"10.1515/medgen-2025-2011","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 2","pages":"153-156"},"PeriodicalIF":1.1,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11976399/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144047372","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}
引用次数: 0
Advances in human induced pluripotent stem cell (hiPSC)-based disease modelling in cardiogenetics. 基于人类诱导多能干细胞（hiPSC）的心脏遗传学疾病建模研究进展。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-04-08 eCollection Date: 2025-06-01 DOI: 10.1515/medgen-2025-2009
Sandra Hoffmann, Timon Seeger
{"title":"Advances in human induced pluripotent stem cell (hiPSC)-based disease modelling in cardiogenetics.","authors":"Sandra Hoffmann, Timon Seeger","doi":"10.1515/medgen-2025-2009","DOIUrl":"10.1515/medgen-2025-2009","url":null,"abstract":"<p><p>Human induced pluripotent stem cell (hiPSC)-based disease modelling has significantly advanced the field of cardiogenetics, providing a precise, patient-specific platform for studying genetic causes of heart diseases. Coupled with genome editing technologies such as CRISPR/Cas, hiPSC-based models not only allow the creation of isogenic lines to study mutation-specific cardiac phenotypes, but also enable the targeted modulation of gene expression to explore the effects of genetic and epigenetic deficits at the cellular and molecular level. hiPSC-based models of heart disease range from two-dimensional cultures of hiPSC-derived cardiovascular cell types, such as various cardiomyocyte subtypes, endothelial cells, pericytes, vascular smooth muscle cells, cardiac fibroblasts, immune cells, etc., to cardiac tissue cultures including organoids, microtissues, engineered heart tissues, and microphysiological systems. These models are further enhanced by multi-omics approaches, integrating genomic, transcriptomic, epigenomic, proteomic, and metabolomic data to provide a comprehensive view of disease mechanisms. In particular, advances in cardiovascular tissue engineering enable the development of more physiologically relevant systems that recapitulate native heart architecture and function, allowing for more accurate modelling of cardiac disease, drug screening, and toxicity testing, with the overall goal of personalised medical approaches, where therapies can be tailored to individual genetic profiles. Despite significant progress, challenges remain in the maturation of hiPSC-derived cardiomyocytes and the complexity of reproducing adult heart conditions. Here, we provide a concise update on the most advanced methods of hiPSC-based disease modelling in cardiogenetics, with a focus on genome editing and cardiac tissue engineering.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 2","pages":"137-146"},"PeriodicalIF":1.1,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11976404/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144038471","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}
引用次数: 0
Verbesserung der interdisziplinären Zusammenarbeit zwischen den Fachgebieten Kinder- und Jugendpsychiatrie, und -psychotherapie sowie Humangenetik - Anregungen aus kinder- und jugendpsychiatrischer Sicht. 改善儿童和青少年精神病学、心理治疗和人类遗传学领域的跨学科合作——从儿童和青少年精神病学的角度提出建议。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-02-12 eCollection Date: 2025-04-01 DOI: 10.1515/medgen-2024-2068
Franziska Degenhardt, Annegret Brauer, Sarah Hohmann, Martin Holtmann, Nikolaus Barth, Andreas Richterich, Anna Sotnikova, Ingo Spitczok von Brisinski, Luise Poustka, Michael Siniatchkin, Christine M Freitag, Johannes Hebebrand
{"title":"Verbesserung der interdisziplinären Zusammenarbeit zwischen den Fachgebieten Kinder- und Jugendpsychiatrie, und -psychotherapie sowie Humangenetik - Anregungen aus kinder- und jugendpsychiatrischer Sicht.","authors":"Franziska Degenhardt, Annegret Brauer, Sarah Hohmann, Martin Holtmann, Nikolaus Barth, Andreas Richterich, Anna Sotnikova, Ingo Spitczok von Brisinski, Luise Poustka, Michael Siniatchkin, Christine M Freitag, Johannes Hebebrand","doi":"10.1515/medgen-2024-2068","DOIUrl":"10.1515/medgen-2024-2068","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 1","pages":"65-72"},"PeriodicalIF":1.1,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11812475/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411519","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}
引用次数: 0
Diagnostic testing in the genetically complex age-related macular degeneration. 遗传复杂的老年性黄斑变性的诊断试验。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-02-12 eCollection Date: 2025-04-01 DOI: 10.1515/medgen-2024-2064
Christina Kiel, Bernhard H F Weber
{"title":"Diagnostic testing in the genetically complex age-related macular degeneration.","authors":"Christina Kiel, Bernhard H F Weber","doi":"10.1515/medgen-2024-2064","DOIUrl":"10.1515/medgen-2024-2064","url":null,"abstract":"<p><p>Age-related macular degeneration (AMD) is a leading cause of visual impairment with the risk of developing the disease influenced by a combination of genetic and environmental factors. With the recent expansion of treatment options, enhancing diagnostic accuracy and improving access to treatment are increasingly becoming the focus of interest. By using data from genome-wide association studies (GWAS) to generate polygenic risk scores (PRS), an assessment of an individual's genetic risk for AMD is feasible. While the predictive accuracy of the AMD-PRS is most robust for individuals at very high genetic risk, genetic diagnostic testing is warranted due to the large number of affected individuals resulting from the high prevalence of AMD. Early genetic confirmation of AMD-related pathology can facilitate timely treatment initiation, potentially improving patient outcomes.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 1","pages":"27-35"},"PeriodicalIF":1.1,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11812471/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411454","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}
引用次数: 0
Jahresberichte 2024 aus den GfH-Kommissionen und GfH-Arbeitskreisen. “2017年GfH委员会和GfH工作组年度报告”。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-02-12 eCollection Date: 2025-04-01 DOI: 10.1515/medgen-2025-2002
{"title":"Jahresberichte 2024 aus den GfH-Kommissionen und GfH-Arbeitskreisen.","authors":"","doi":"10.1515/medgen-2025-2002","DOIUrl":"10.1515/medgen-2025-2002","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 1","pages":"77-90"},"PeriodicalIF":1.1,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11812476/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411472","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}
引用次数: 0
Long-term experience with gene augmentation therapy in patients with inherited retinal disease associated with biallelic mutations in RPE65. 基因增强治疗与RPE65双等位基因突变相关的遗传性视网膜疾病患者的长期经验
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-02-12 eCollection Date: 2025-04-01 DOI: 10.1515/medgen-2024-2067
Birgit Lorenz
{"title":"Long-term experience with gene augmentation therapy in patients with inherited retinal disease associated with biallelic mutations in <b><i>RPE65</i></b>.","authors":"Birgit Lorenz","doi":"10.1515/medgen-2024-2067","DOIUrl":"10.1515/medgen-2024-2067","url":null,"abstract":"<p><p><i>RPE65</i> biallelic mutation-associated inherited retinal degeneration (IRD) is currently the only IRD for which gene therapy is approved. This narrative review provides a brief overview of the disease and an update of the current literature on outcomes following the approval of treatment with voretigene neparvovec (LuxturnaTM) in 2017 (USA) and Europe (2018). Post-marketing results confirm a significant therapeutic effect of this gene augmentation on rod function similar to that seen in the phase 1 to 3 clinical trials. The full-field chromatic light sensitivity test is an appropriate test to demonstrate early and sustained effects of treatment. Visual acuity and visual fields may improve in less advanced disease. Accelerated chorioretinal atrophy (CRA) is a previously unrecognised adverse effect that is now reported in 13 % to 50 % of treated eyes. If central, visual acuity loss and paracentral visual field defects may occur. Further studies are needed to identify patients at risk of CRA in order to maximize patient benefit from a costly intervention.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 1","pages":"47-56"},"PeriodicalIF":1.1,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11812477/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411500","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}
引用次数: 0
Bern: PD Dr. rer. nat. Anne Gregor Habilitation zum Thema "Modellsysteme für neuronale Entwicklungsstörungen". 柏林：PD博士。安妮·格雷戈尔关于“神经发育障碍的模型系统”的适应。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2045
Anne Gregor
{"title":"Bern: PD Dr. rer. nat. Anne Gregor Habilitation zum Thema \"Modellsysteme für neuronale Entwicklungsstörungen\".","authors":"Anne Gregor","doi":"10.1515/medgen-2024-2045","DOIUrl":"https://doi.org/10.1515/medgen-2024-2045","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"265"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610439/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774370","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}
引用次数: 0
Bonn: Prof. Silvia Paracchini, PhD, Professor of Neurodevelopmental Genomics. 波恩：神经发育基因组学教授Silvia Paracchini博士。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2048
Silvia Paracchini
{"title":"Bonn: Prof. Silvia Paracchini, PhD, Professor of Neurodevelopmental Genomics.","authors":"Silvia Paracchini","doi":"10.1515/medgen-2024-2048","DOIUrl":"https://doi.org/10.1515/medgen-2024-2048","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"269-270"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610434/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774304","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}
引用次数: 0
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