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Developmental and epileptic encephalopathies - therapeutic consequences of genetic testing. 发育性和癫痫性脑病-基因检测的治疗结果
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI: 10.1515/medgen-2022-2145
Steffen Syrbe

Developmental and epileptic encephalopathies comprise a heterogeneous group of monogenic neurodevelopmental disorders characterized by early-onset seizures, marked epileptic activity and abnormal neurocognitive development. The identification of an increasing number of underlying genetic alterations and their pathophysiological roles in cellular signaling drives the way toward novel precision therapies. The implementation of novel treatments that target the underlying mechanisms gives hope for disease modification that will improve not only the seizure burden but also the neurodevelopmental outcome of affected children. So far, beneficial effects are mostly reported in individual trials and small numbers of patients. There is a need for international collaborative studies to define the natural history and relevant outcome measures and to test novel pharmacological approaches.

发展性和癫痫性脑病包括一组异质性的单基因神经发育障碍,其特征是早发性癫痫发作、明显的癫痫活动和异常的神经认知发育。越来越多的潜在遗传改变及其在细胞信号传导中的病理生理作用的发现推动了新的精确治疗方法的发展。针对潜在机制的新治疗方法的实施为疾病改变带来了希望,这不仅会改善癫痫发作负担,还会改善受影响儿童的神经发育结果。到目前为止,有益效果主要是在个别试验和少数患者中报道的。有必要进行国际合作研究,以确定自然历史和相关的结果措施,并测试新的药理学方法。
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引用次数: 0
Wissenschaftspreis 2022 der GSK Stiftung für Dr. med. Sarah Kim-Hellmuth (München). 葛兰素史克基金会授予医学博士Sarah Kim Hellmuth 2022年科学奖(慕尼黑)
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI: 10.1515/medgen-2022-2151
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引用次数: 0
Monogenetic epilepsies and how to approach them in 2022. 2022年单基因癫痫及治疗方法
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI: 10.1515/medgen-2022-2143
Ilona Krey, Konrad Platzer, Johannes R Lemke
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引用次数: 0
Polygenic risk scores in epilepsy. 癫痫多基因风险评分
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI: 10.1515/medgen-2022-2146
Henrike O Heyne

An epilepsy diagnosis has large consequences for an individual but is often difficult to make in clinical practice. Novel biomarkers are thus greatly needed. Here, we give an overview of how thousands of common genetic factors that increase the risk for epilepsy can be summarized as epilepsy polygenic risk scores (PRS). We discuss the current state of research on how epilepsy PRS can serve as a biomarker for the risk for epilepsy. The high heritability of common forms of epilepsy, particularly genetic generalized epilepsy, indicates a promising potential for epilepsy PRS in diagnosis and risk prediction. Small sample sizes and low ancestral diversity of current epilepsy genome-wide association studies show, however, a need for larger and more diverse studies before epilepsy PRS could be properly implemented in the clinic.

摘要癫痫的诊断对个人有很大的影响,但在临床实践中往往很难做出。因此,迫切需要新的生物标志物。在这里,我们概述了如何将数千种增加癫痫风险的常见遗传因素总结为癫痫多基因风险评分(PRS)。我们讨论了癫痫PRS如何作为癫痫风险的生物标志物的研究现状。常见癫痫形式的高遗传性,特别是遗传性全身性癫痫,表明癫痫PRS在诊断和风险预测方面具有很好的潜力。然而,当前癫痫全基因组关联研究的样本量小且祖先多样性低,这表明在癫痫PRS能够在临床上正确实施之前,需要进行更大规模、更多样的研究。
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引用次数: 0
Rückblende GfH-Jahrestagung 2022. 2022年闪电年
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI: 10.1515/medgen-2022-2155
Anja Rössler
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引用次数: 0
Genetic testing in adults with developmental and epileptic encephalopathy - what do we know? 发育性和癫痫性脑病成年人的基因检测——我们知道什么?
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI: 10.1515/medgen-2022-2144
Ilona Krey, Kathrine M Johannesen, Oona Kohnen, Johannes R Lemke

Knowledge of underlying genetic causes of developmental and epileptic encephalopathies (DEE) in adults is still limited when compared to the routine diagnostic approach in similarly affected children. A well-documented longitudinal study of adults with DEE is of utmost importance to understand the natural history of the respective entity. This information is of great value especially for genetic counselling of newly diagnosed children with identical genetic diagnoses and may impact treatment and management of affected individuals. In our meta-analysis we provide an overview of the most recurrent genetic findings across an adult DEE cohort (n=1,020). The gene mostly associated with a pathogenic or likely pathogenic variant in adult DEE is SCN1A, followed by MECP2 and CHD2. Studies employing exome sequencing and calling of both single nucleotide variants and copy number variants are associated with diagnostic yields of almost 50 %. Finally, we highlight three remarkable cases, each representing the oldest individual ever published with their genetic diagnosis, i. e., Angelman syndrome, Miller-Dieker syndrome, and CAMK2A-related disorder, and describe lessons learned from each of these adults.

摘要与受类似影响儿童的常规诊断方法相比,对成人发育性和癫痫性脑病(DEE)潜在遗传原因的了解仍然有限。对患有避蚊胺的成年人进行有充分记录的纵向研究,对于了解各自个体的自然史至关重要。这些信息具有重要价值,尤其是对具有相同基因诊断的新诊断儿童的基因咨询,并可能影响受影响个体的治疗和管理。在我们的荟萃分析中,我们概述了成年避蚊胺队列中最常见的遗传发现(n=1020n=1020)。在成人DEE中,主要与致病性或可能致病性变体相关的基因是SCN1A,其次是MECP2和CHD2。采用外显子组测序和调用单核苷酸变体和拷贝数变体的研究与近50的诊断产率相关 %. 最后,我们强调了三个显著的病例,每个病例都代表了有史以来最古老的基因诊断个体。 e.,Angelman综合征、Miller–Dieker综合征和CAMK2A相关疾病,并描述从这些成年人身上学到的教训。
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引用次数: 0
[Non-directivity as a guiding category in human genetic counselling in a historical perspective]. 从历史的角度看非定向性作为人类遗传咨询的主导范畴
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI: 10.1515/medgen-2022-2148
F Söhner, V Rolfes, W Hofmann, K Zerres, H Fangerau, M Krischel

In this article we describe and analyse the issue of non-directivity in human genetic counselling in Germany between 1970 and 2010 based on printed sources and oral history interviews. The focus is on the extent to which the ethical aspects in genetic counselling were debated among human geneticists and to what extent aspects of non-directivity were discussed.As the results show, it was not only in retrospect that experts attributed great importance to the autonomy of those seeking advice and rejected "directive" advice, at least in public positions. They considered ethical justification to be central here.

摘要本文在印刷资料和口述历史访谈的基础上,描述和分析了1970年至2010年德国人类基因咨询的非方向性问题。特别是,重点将放在遗传咨询专家对伦理问题的科学和社会论述的理解程度,以及对非指导性咨询的各个方面的讨论程度。研究结果表明,专家们不仅非常重视那些寻求建议的人的自主权,而且拒绝“指示性”建议,至少在公共职位上是这样。
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引用次数: 0
Clinical relevance and translational impact of reduced penetrance in genetic movement disorders. 遗传运动障碍外显率降低的临床相关性和转化影响
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2022-08-12 eCollection Date: 2022-06-01 DOI: 10.1515/medgen-2022-2128
Sebastian Heinzel, Deborah Mascalzoni, Tobias Bäumer, Daniela Berg, Meike Kasten, Norbert Brüggemann

Reduced penetrance is an important but underreported aspect in monogenic diseases. It refers to the phenomenon that carriers of pathogenic variants do not manifest with an overt disease. Clinical expressivity, on the other hand, describes the degree to which certain disease characteristics are present. In this article, we discuss the implications of reduced penetrance on genetic testing and counseling, outline how penetrance can be estimated in rare diseases using large cohorts and review the ethical, legal and social implications of studying non-manifesting carriers of pathogenic mutations. We highlight the interplay between reduced penetrance and the prodromal phase of a neurodegenerative disorder through the example of monogenic Parkinson's disease and discuss the therapeutic implications.

外显率降低是单基因疾病中一个重要但报道不足的方面。它指的是致病性变体携带者没有表现出明显疾病的现象。另一方面,临床表现力描述了某些疾病特征的存在程度。在这篇文章中,我们讨论了外显率降低对基因检测和咨询的影响,概述了如何使用大型队列来估计罕见病的外显率,并回顾了研究致病突变的非显性携带者的伦理、法律和社会影响。我们以单基因帕金森病为例,强调了外显率降低与神经退行性疾病前驱期之间的相互作用,并讨论了其治疗意义。
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引用次数: 0
Patient-derived cells - an irreplaceable tool for research of reduced penetrance in movement disorders. 患者来源的细胞-运动障碍降低外显率研究的不可替代的工具
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2022-08-12 eCollection Date: 2022-06-01 DOI: 10.1515/medgen-2022-2133
Philip Seibler, Aleksandar Rakovic

Movement disorders comprise a clinically, pathologically, and genetically heterogeneous group of diseases associated with the phenomenon of reduced penetrance. Penetrance refers to the likelihood that a clinical condition will occur when a particular genotype is present. Elucidating the cause of reduced penetrance may contribute to more personalized medicine by identifying genetic factors that may prevent individuals from developing disease. Therefore, patient material becomes an irreplaceable resource in this approach. It is needed to identify genetic modifiers of the disease in the first place and to subsequently elucidate underlying mechanisms in endogenous human cell models that provide the entire genetic background.

运动障碍包括与外显率降低现象相关的临床、病理和遗传异质性疾病组。外显率是指当某一特定基因型存在时,某一临床状况发生的可能性。阐明外显率降低的原因可能有助于通过识别可能阻止个体发展疾病的遗传因素来实现更个性化的医疗。因此,患者材料成为该方法中不可替代的资源。首先需要确定疾病的遗传修饰因子,然后阐明提供整个遗传背景的内源性人类细胞模型的潜在机制。
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引用次数: 0
Das „klinische Jahr“ in der Humangenetik – Zeit für eine Neuauflage?: Perspektiven aus der Jungen Humangenetik. 人类遗传学的“临床年”——新版的时间到了?
IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Pub Date : 2022-08-12 eCollection Date: 2022-06-01 DOI: 10.1515/medgen-2022-2130
Ilona Krey, Robert Meyer, Johanna Tecklenburg, Für Die Junge Humangenetik
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引用次数: 0
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Medizinische Genetik
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