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•人遗传疾病的分子基础（神经肌肉和神经退行性疾病，肾脏疾病，骨骼疾病和遗传性肿瘤倾向综合征）和罕见发育综合征的鉴定和表征。Subtopics: disease gene location (linkage studies), identification of disease genes (targeted (Panel) and whole exome sequencing using next generation sequencing), identification of underlying mutations, functional analysis of disease genes in vitro and in vivo, functional analysis of the disease relevant protein complexes • Identification of disease modifying/protective factors • Therapeutic approaches (pharmacotherapy, epigenetic approaches, gene疗法）•分子遗传技术（PCR，测序，实时PCR，多态性标记的基因分型，RT-PCR，焦磷酸测序，Southern-Clotting等）•分析测序数据和突变，单倍型的构建，引物的构造，序列的组装和对齐等。•分子克隆（将PCR片段克隆到质粒中，质粒DNA的分离，转染）； use of CRISPR/Cas-system • Cell culture technology (working with human and murine cell lines) • Working with inducible pluripotent stem cells (iPSC) and neuronal differentiation • Immunohistochemistry, fluorescence microscopy • Protein analysis and protein-interaction methods (Western blotting, co-immunoprecipitation of proteins, pull-down, chromatin-immunoprecipitations (ChIP) etc.)•分析敲除和转基因小鼠的解释性注释：上面的列表包括人类遗传学，CECAD，CMMC，CCG，CCG，表观基因组学和眼睛的实验免疫学的主题和技术。因此，参加该模块的每个学生都将面临其中的大部分子集。确切的内容将取决于学生和研究项目的研究项目。
模块名称分子人遗传学
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