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Single-cell sequencing: promises and challenges for human genetics. 单细胞测序:人类遗传学的希望与挑战
IF 1.1 4区 生物学 Q4 Medicine
Medizinische Genetik
Pub Date : 2022-11-29 eCollection Date: 2022-12-01 DOI: 10.1515/medgen-2022-2156
Varun K A Sreenivasan, Jana Henck, Malte Spielmann

Over the last decade, single-cell sequencing has transformed many fields. It has enabled the unbiased molecular phenotyping of even whole organisms with unprecedented cellular resolution. In the field of human genetics, where the phenotypic consequences of genetic and epigenetic alterations are of central concern, this transformative technology promises to functionally annotate every region in the human genome and all possible variants within them at a massive scale. In this review aimed at the clinicians in human genetics, we describe the current status of the field of single-cell sequencing and its role for human genetics, including how the technology works as well as how it is being applied to characterize and monitor diseases, to develop human cell atlases, and to annotate the genome.

在过去的十年中，单细胞测序已经改变了许多领域。它以前所未有的细胞分辨率使整个生物体的无偏见分子表型成为可能。在人类遗传学领域，遗传和表观遗传改变的表型后果是人们关注的中心问题，这种变革性技术有望对人类基因组的每个区域及其中所有可能的变异进行大规模的功能注释。在这篇针对人类遗传学临床医生的综述中，我们描述了单细胞测序领域的现状及其在人类遗传学中的作用，包括该技术如何工作以及如何应用于表征和监测疾病，开发人类细胞图谱和基因组注释。
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引用次数: 0
Tagungsbericht Syndromtag 30.09.–01.10.2022: Perspektivwechsel – Syndromologie und Onkogenetik. 会议报告
IF 1.1 4区 生物学 Q4 Medicine
Medizinische Genetik
Pub Date : 2022-11-29 eCollection Date: 2022-12-01 DOI: 10.1515/medgen-2022-2165
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引用次数: 0
Die GfH-Juniorakademie 2022 – #GfHJAK22 @schlossbuchenau. GfH青年学院2022–#GfHJAK22@schlossbuchenau
IF 1.1 4区 生物学 Q4 Medicine
Medizinische Genetik
Pub Date : 2022-11-29 eCollection Date: 2022-12-01 DOI: 10.1515/medgen-2022-2163
Simone Ahting, Andreas Forstner, Maria Korte, Ilona Krey, Felicitas Maier, Robert Meyer, Linda Rey-Thol, Franziska Schnabel
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引用次数: 0
Functional genomics meets human genetics. 功能基因组学与人类遗传学相结合
IF 1.1 4区 生物学 Q4 Medicine
Medizinische Genetik
Pub Date : 2022-11-29 eCollection Date: 2022-12-01 DOI: 10.1515/medgen-2022-2160
Kerstin U Ludwig, Malte Spielmann
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引用次数: 0
Aufklärung über mögliche „Nebenbefunde“ in der genomischen Medizin. 基因组医学中可能的“副发现”的启示
IF 1.1 4区 生物学 Q4 Medicine
Medizinische Genetik
Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI: 10.1515/medgen-2022-2147
Jörg Schmidtke
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引用次数: 0
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 Medicine
Medizinische Genetik
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 Medicine
Medizinische Genetik
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
Humangenetik-Promotionspreise 2022. 2022年人类遗传学博士奖
IF 1.1 4区 生物学 Q4 Medicine
Medizinische Genetik
Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI: 10.1515/medgen-2022-2149
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引用次数: 0
Einladung zur BVDH Herbsttagung am 25. und 26.11.2022: Leonardo Royal Hotel Köln, Am Stadtwald, Dürener Straße 287, 50935 Köln. 邀请参加25日举行的BVDH秋季会议。和2022年11月26日
IF 1.1 4区 生物学 Q4 Medicine
Medizinische Genetik
Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI: 10.1515/medgen-2022-2154
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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 Medicine
Medizinische Genetik
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
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