Foundations of Medical Genetics: Inheritance, Mutations, and Genetic Disease

Medical genetics is increasingly woven into clinical practice through testing, screening, and targeted therapy. Strong reasoning depends on a clear understanding of inheritance patterns, types of mutations, and the principles of genetic disease. This foundational course provides that base. By the end of this course you will be able to describe the major inheritance patterns, recognize the types and consequences of mutations, distinguish common categories of genetic disease, and apply genetic reasoning to clinical contexts. What you will learn: - The structure of the human genome and the principles of gene expression - Mendelian inheritance patterns including autosomal dominant, autosomal recessive, and X-linked - Non-Mendelian inheritance including mitochondrial, multifactorial, and imprinting disorders - Types of mutations and their functional consequences - The principles of cytogenetic abnormalities including aneuploidy and structural variants - The categories of single-gene, chromosomal, and complex genetic disorders - Population genetics principles including Hardy-Weinberg and allele frequencies The course uses readings, pedigree analysis, case examples, and reflection questions. Each module ends with applied exercises that connect genetics to clinical reasoning. This course is written for medical and allied health students, genetic counseling students, residents reviewing fundamentals, and clinicians refreshing genetic foundations. By the end you will have replaced fragmented genetic knowledge with a structured understanding that supports clinical reasoning and effective communication about genetic issues.