Genetic diseases and embryonal methylation in chromosomes
Gene methylation in Prader-Willie-, Angelman- and Beckwith-Wiedemann Syndromes
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What You Will Learn!
- What is gene imprinting?
- Genetics of three childhood diseases with absent paternal/maternal gene expression
- Epigenetics in three congenital syndromes
- Genetics of imprinting disorders
- Functional importance of gene imprinting in cell
- How uniparental disomy cause Prader-Willie and similar childhood syndromes?
- Disorders with disturbed genomic imprinting
Description
The functional state of parental chromosome(s) determine the probability of Prader-Willie-, Angelman- and Beckwith-Wiedemann Syndromes in the affected children
Prader-Willie-, Angelman- and Beckwith-Wiedemann Syndromes belong to a special category of genetic diseases known as imprinting disorders that could occur without traditional gene mutations or chromosomal number/structural changes. Further, no increased risk has been reported due to ancestry or ethnicity.
The susceptibility to these syndromes is dependent on the preferential allele selected for methylation during embryogenesis only in the affected children(meaning family with an affected child have theoretical normal probability of having second child unaffected similar to any other family) .
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" .
Take the rare opportunity to learn about these syndromes and diagnostic features, by enrolling in the course today.
Who Should Attend!
- health and biology students
- cancer researchers
- Pre-med students