Overview

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.

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