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Awarding of the GfH Medal of Honor 2025 to Prof. Dr. med. Stefan Mundlos: Laudatio by Prof. Dr. med. André Reis, Institute of Human Genetics, Universitätsklinikum Erlangen, on the occasion of the 35. GfH Conference on 02.04.2025 in Innsbruck. 颁发2025年GfH荣誉勋章给Stefan Mundlos博士教授：人类遗传学研究所（Universitätsklinikum Erlangen）的andr<s:1> Reis博士教授在35周年之际向他表示祝贺。2025年4月2日在因斯布鲁克举行的世界卫生组织国际会议。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2014
André Reis
{"title":"Awarding of the GfH Medal of Honor 2025 to Prof. Dr. med. Stefan Mundlos: Laudatio by Prof. Dr. med. André Reis, Institute of Human Genetics, Universitätsklinikum Erlangen, on the occasion of the 35. GfH Conference on 02.04.2025 in Innsbruck.","authors":"André Reis","doi":"10.1515/medgen-2025-2014","DOIUrl":"10.1515/medgen-2025-2014","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"231-232"},"PeriodicalIF":1.4,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268250/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676431","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
Current and future precision therapy approaches in the long QT syndrome. 长QT综合征目前和未来的精确治疗方法。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2015
Saranda Nimani, Miriam Barbieri, Marina Rieder, Katja E Odening
{"title":"Current and future precision therapy approaches in the long QT syndrome.","authors":"Saranda Nimani, Miriam Barbieri, Marina Rieder, Katja E Odening","doi":"10.1515/medgen-2025-2015","DOIUrl":"10.1515/medgen-2025-2015","url":null,"abstract":"<p><p>The long QT syndrome is a genetic arrhythmia disorder that predisposes patients to ventricular arrhythmias and sudden cardiac death. Pronounced genotype-specific differences in molecular mechanisms, arrhythmia triggers, and arrhythmogenic risk are well established, making the disease a prime candidate for precision medicine approaches in cardiology. In this review, we first highlight the genetic basis of long QT syndrome, clinical genotype differences, and risk prediction approaches. In the second part, we discuss the current standard therapies applicable to all genotypes, as well as both established and emerging gene-specific precision therapy approaches.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"189-196"},"PeriodicalIF":1.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268256/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676433","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
Precision medicine. 精密医学。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2028
Christiane Zweier, Miriam Elbracht, Ilona Krey-Grauert
{"title":"Precision medicine.","authors":"Christiane Zweier, Miriam Elbracht, Ilona Krey-Grauert","doi":"10.1515/medgen-2025-2028","DOIUrl":"https://doi.org/10.1515/medgen-2025-2028","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"161-162"},"PeriodicalIF":1.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268244/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676436","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
Antisense oligonucleotide therapies for monogenic disorders. 反义寡核苷酸治疗单基因疾病。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2025
Ilona Krey-Grauert, Irene Ferro, Matias Wagner
{"title":"Antisense oligonucleotide therapies for monogenic disorders.","authors":"Ilona Krey-Grauert, Irene Ferro, Matias Wagner","doi":"10.1515/medgen-2025-2025","DOIUrl":"10.1515/medgen-2025-2025","url":null,"abstract":"<p><p>Antisense oligonucleotides (ASOs) are a promising therapeutic modality for monogenic disorders, offering precise RNA-targeting strategies to modulate gene expression. Despite challenges in delivery, toxicity, and off-target effects, ASO therapies have advanced rapidly, with several approved treatments and numerous candidates in clinical development. Their application spans neurogenetic, metabolic, and oncologic disorders, also with emerging n-of-1 approaches for ultra-rare conditions. This review describes the different mechanism of how ASOs work depending on their chemistry and discusses the considerations of which patients could be amendable for treatment highlighting the role of human genetics for decision making.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"179-187"},"PeriodicalIF":1.1,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268252/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676430","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
Tagungsbericht des Tagungspräsidenten Univ.-Prof. Dr. med. Johannes Zschocke, Ph.D. “大学校长”。约翰内斯·茨肖克博士，医学博士
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2016
{"title":"Tagungsbericht des Tagungspräsidenten Univ.-Prof. Dr. med. Johannes Zschocke, Ph.D.","authors":"","doi":"10.1515/medgen-2025-2016","DOIUrl":"10.1515/medgen-2025-2016","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"227-229"},"PeriodicalIF":1.4,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268248/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676440","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
Updates zum Modellvorhaben Genomsequenzierung nach § 64e SGB V. 根据§64e SGB V更新模型项目基因组测序。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2027
Malte Spielmann
{"title":"Updates zum Modellvorhaben Genomsequenzierung nach § 64e SGB V.","authors":"Malte Spielmann","doi":"10.1515/medgen-2025-2027","DOIUrl":"10.1515/medgen-2025-2027","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"249"},"PeriodicalIF":1.4,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268249/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676441","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
Save the Date - BVDH Herbsttagung 2025. 保存日期- BVDH Herbsttagung 2025。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 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}
引用次数: 0
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. 第37号决议。德国人类遗传学学会普通会员大会将于2025年4月3日举行。GfH年会于2025年4月2日至4日在因斯布鲁克举行。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 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":"10.1515/medgen-2025-2020","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"235-243"},"PeriodicalIF":1.4,"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}
引用次数: 0
Editorial - Patient perspectives on new therapies for genetic diseases. 社论-患者对遗传疾病新疗法的看法。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 10.1515/medgen-2025-2018
Miriam Elbracht, Christiane Zweier, Ilona Krey-Grauert
{"title":"Editorial - Patient perspectives on new therapies for genetic diseases.","authors":"Miriam Elbracht, Christiane Zweier, Ilona Krey-Grauert","doi":"10.1515/medgen-2025-2018","DOIUrl":"10.1515/medgen-2025-2018","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"37 3","pages":"163-167"},"PeriodicalIF":1.4,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268246/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676434","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
Berlin: Prof. Dr. med. Martin A. Mensah - Humangenetik am Helios Klinikum Berlin-Buch und Professur für Humangenetik an der MSB Medical School Berlin. 柏林：Martin A. Mensah教授，柏林赫利俄斯诊所人类遗传学教授，柏林MSB医学院人类遗传学教授。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2025-07-17 eCollection Date: 2025-07-01 DOI: 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":1.4,"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}
引用次数: 0
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