Genomics of Common and Rare Inherited Diseases
This course offers a broad understanding of current knowledge on rare and complex diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate human disorders brings readers closer to unravelling many more that remain undiscovered. The challenges associated with performing such analysis and the opportunities to understand disease architecture and pathophysiology better. Specific areas are to be discussed including large scale sequencing project in rare diseases, comparative genomics, epigenome-wide analysis and proteomics.
Teaching methods
• Lectures
• E-Lab
- Course CodeOPPM303
- ModuleModule 3
- Credit Hours6ECTS/3EG/3LB
- Understand the importance of comparative genome sequencing projects to reveal evolution processes and help interpret regions in the human genome.
- Understand how next-generation sequencing and chromosomal microarray can be used to detect copy number variation in genetic testing of fetuses.
- Familiarize with the application of human epigenomic methods to understand the Health and Disease States.
- Highlight how the molecular diagnosis of Cystic fibrosis is being made.
- Discuss the genetic heterogeneity seen in inherited retinal diseases..
- Familiarize with several important diseases with genetic components, and knowing which ones can be treated and for which one’s lifestyle adjustments can reduce the danger inherent in genetic risk factors.
- Understand the different proteomics strategies.
- Understand the pathophysiology of rare cardiovascular diseases.
- Explain the value of genetic testing and its implications on the patient and family members..
- Understand basic concepts of epigenetics and their relation to CVDs & their pharmaco-epigenomic treatment.
- Describe the translational applications of the iPSCs-derived cardiomyocytes.