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所在平台: Udemy |
课程主页: https://www.udemy.com/course/genetics-101-for-health-and-science-students/
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本课程名为“微妙的甲基化模式是否会导致遗传性疾病？”，专注于探讨DNA甲基化这一表观遗传机制如何不通过基因突变或染色体缺失来影响基因功能，以及其在癌症等疾病中的普遍性。课程将重点介绍甲基化在胚胎发育中的关键作用，以及去甲基化和再甲基化过程在重塑胚胎甲基化模式中的重要性。 课程将深入讲解三种特殊的遗传性疾病：普瑞德-威利综合征（Prader-Willi Syndrome）、天使综合征（Angelman Syndrome）和贝克威思-怀德曼综合征（Beckwith-Wiedemann Syndrome）。这些疾病属于印记病（imprinting disorders），其病因在于胚胎发育过程中甲基化模式建立阶段发生的异常改变。仅是预期甲基化等位基因（来自父亲或母亲的染色体）的颠倒，就足以诱发这些疾病。 这些综合征虽然不具有遗传性，但会在婴儿期发病，生命无虞，但可能产生长远的临床影响。目前对这些综合征的临床管理主要以支持性治疗为主，尚无根治方法。 课程内容结构如下： * **第一部分：** 课程介绍。 * **第二部分：** 遗传性疾病的常见描述性术语及其例子。 * **第三部分：** 详细介绍普瑞德-威利综合征、天使综合征和贝克威思-怀德曼综合征。 特别地，普瑞德-威利综合征和天使综合征被形象地比喻为“亲代等位基因的跷跷板游戏”。亲代染色体（来自父方或母方）的功能状态，直接决定了患儿罹患这三种综合征的概率。 课程由Biju Joseph博士主讲，旨在让学习者认识到非遗传性、但具有严重发育后果的疾病，以及应对这类疾病的努力。建议您抓住机会，立即报名学习！
DNA could be silenced by multiple mechanisms including methylation that do not require mutations or chromosomal deletions. These processes that do not require mutations, in general, are called epigenetic mechanisms and are common in many cancers. Methylation is important during embryogenesis, and demethylation and re-methylation processes are important in establishing the methylation pattern of the embryo(child). Prader-Willie-, Angelman- and Beckwith-Wiedemann Syndromes belong to a special category of genetic diseases known as imprinting disorders. These diseases occur due to the unexpected changes in methylation during the establishment of the methylation pattern during embryogenesis. Any inversion of the expected allele of choice for methylation alone(chromosome from father instead of mother or vice versa) is sufficient to cause these disorders.The disease manifests in their infancy with no threat to life but have potential clinical effects. Though not hereditary, the clinical management of the syndromes involve supportive therapy alone with no complete cure available.The course describes the genetic alterations revolved around methylation in specific causative chromosomes that lead to these diseases. The section 1 introduction to the course. Section 2 describes the common descriptive terms in genetic diseases with examples and section 3 describes the syndromes mentioned above. Prader-Willie-, Angelman- syndromes have the figurative attribute "Seesaw game between parental alleles". The functional state of parental chromosome(s) determine the probability of Prader-Willie-, Angelman- and Beckwith-Wiedemann Syndromes in the affected children.I request you to grab the opportunity and learn about syndromes that are non hereditary; with severe developmental consequences and efforts in tackling the class of diseases, by enrolling in the course today.Biju Joseph Ph.D.
