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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
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
Genetic diagnosis of the Ehlers-Danlos syndromes. 埃勒-丹洛斯综合征的遗传诊断。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2061
Johannes Zschocke, Serwet Demirdas, Fleur S van Dijk
{"title":"Genetic diagnosis of the Ehlers-Danlos syndromes.","authors":"Johannes Zschocke, Serwet Demirdas, Fleur S van Dijk","doi":"10.1515/medgen-2024-2061","DOIUrl":"10.1515/medgen-2024-2061","url":null,"abstract":"<p><p>The Ehlers-Danlos syndromes (EDS) represent a group of genetically diverse disorders characterized by the variable combination of joint hypermobility, hyperextensibility of the skin, and connective tissue fragility affecting the skin and other organs. Based on clinical features, 13 different types of EDS have been delineated, 12 of which represent monogenic conditions caused by pathogenic variants in 21 confirmed genes. Pathogenesis is related to disturbances of collagen formation and/or stability. No monogenic cause has been identified for hypermobile EDS (hEDS), a more common EDS type, which is unlikely to represent a single gene disorder in the majority of affected individuals and at present cannot be diagnosed by genetic investigations. Here we summarize the clinical features and the molecular bases of the monogenic EDS types, highlight diagnostic challenges, and provide guidance for the molecular work-up of affected individuals. In general, genetic tests are indicated if clinical features suggest a monogenic EDS type but are usually unrewarding for other cases of hypermobility.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"235-245"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610442/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774395","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 GfH-Juniorakademie 2024: #GfHJAK24 @schlossbuchenau. “2017年GfH-Juniorakademie”（德语）。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2056
Simone Ahting, Helene Faust, Andreas Forstner, Maike Karnstedt, Maria Korte, Ilona Krey, Robert Meyer, Daniel Pieh, Anna Schaffeldt, Franziska Schnabel
{"title":"Tagungsbericht GfH-Juniorakademie 2024: #GfHJAK24 @schlossbuchenau.","authors":"Simone Ahting, Helene Faust, Andreas Forstner, Maike Karnstedt, Maria Korte, Ilona Krey, Robert Meyer, Daniel Pieh, Anna Schaffeldt, Franziska Schnabel","doi":"10.1515/medgen-2024-2056","DOIUrl":"https://doi.org/10.1515/medgen-2024-2056","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"277-280"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610437/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774438","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
Monitoring des nicht-invasiven Pränataltests (NIPT). 非侵入性产前检测（NIPT）。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2052
{"title":"Monitoring des nicht-invasiven Pränataltests (NIPT).","authors":"","doi":"10.1515/medgen-2024-2052","DOIUrl":"10.1515/medgen-2024-2052","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"289-290"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774399","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
Ankündigung der GfH-Jahrestagung 2025Grußwort des Tagungspräsidenten: Genetics connects - Genetik verbindet. GfH 2025年年会主席致辞：基因连接。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2047
{"title":"Ankündigung der GfH-Jahrestagung 2025Grußwort des Tagungspräsidenten: Genetics connects - Genetik verbindet.","authors":"","doi":"10.1515/medgen-2024-2047","DOIUrl":"https://doi.org/10.1515/medgen-2024-2047","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"283-285"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610430/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774231","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
Ein Geburtstagsgruß für Tiemo Grimm zum 80. Geburtstag. “蒂莫·格林80岁生日问候”。.生日
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2044
Klaus Zerres
{"title":"Ein Geburtstagsgruß für Tiemo Grimm zum 80. Geburtstag.","authors":"Klaus Zerres","doi":"10.1515/medgen-2024-2044","DOIUrl":"https://doi.org/10.1515/medgen-2024-2044","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"271-273"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774424","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
Nachruf John M. Opitz, geboren in Hamburg am 15.08.1935, verstorben 31. Oktober 2023 in Salt Lake City, Utah, U. S. A. Nachruf John M. Opitz， 1935年8月15日在汉堡出生。2023年10月在美国犹他州盐湖城举行。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2055
Anita Rauch, André Reis
{"title":"Nachruf John M. Opitz, geboren in Hamburg am 15.08.1935, verstorben 31. Oktober 2023 in Salt Lake City, Utah, U. S. A.","authors":"Anita Rauch, André Reis","doi":"10.1515/medgen-2024-2055","DOIUrl":"10.1515/medgen-2024-2055","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"275-276"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610435/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774402","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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