Human Genetic Disorders: From Rare Diseases to Cancer - 2026

It has become very clear that genetic structure and organization of an individual plays an important role in the well-being of a person. Though we do not understand the phenotypic (or functional) implications of all variations in one’s genome, our understanding of the human genome has seen great strides in the last two decades and we are now in a position to predict functional consequences of many changes that are seen in our genome. Genetic disorders are caused by changes in our genome and have been implicated in almost every disease known to man. It is said that “if one goes into details, all diseases are likely to be genetic disorders”. In this course we will recapitulate basic principles of genetics and introduce the concepts of human genetics. It is now clear that thousands of rare diseases are caused by genetic alterations and cancers are thought to be a form of genetic disorders. You will learn about the genetic basis of these diseases, how to diagnose and treat these diseases including some of the newer therapeutic approaches. Finally, you will learn how to analyse human genomic data and identify disease alleles. 

• Recapitulation of basic concepts in genetics and molecular biology
• Alterations in DNA sequences and their consequences
• Methods and techniques in genomic analysis
• Mendelian single gene disorders
• Complex genetic disorders
• Cancer genomics
• Genomics-driven diagnosis and prevention
• Genomics-driven therapy
• Genetic counselling and ethics in genetics
• Demonstration using publicly available resources
• Paper discussion

• A broad understanding of principles of genetics
• Learning about human genetics and genetic basis of different diseases
• Students will get familiar with tools and techniques that are used to analyse human genetic information and genotype to phenotype relationship
• Students will be familiar with basic ethical principles in genetic research