Pathological Genetics: How Genes Cause Disease

About this course

Every disease has a story written in DNA, and learning to read that story has become one of the most powerful skills in modern medicine. Pathological genetics sits at the heart of contemporary clinical practice, from explaining why one infant is born with cystic fibrosis while another inherits sickle cell disease, to predicting which patients will respond to chemotherapy and which require alternative regimens. Whether you are entering medicine, advancing through pathology training, studying genetic counseling, or simply trying to understand the molecular foundations of the diseases you encounter, this course gives you the conceptual framework to think clearly about how genetic changes produce human illness.

You will begin with the fundamentals of mutation, learning to distinguish point mutations, insertions, deletions, trinucleotide expansions, and chromosomal rearrangements, and to predict how each type affects protein structure and function. From there you will master the four classical Mendelian inheritance patterns through landmark diseases including Huntington disease, Marfan syndrome, cystic fibrosis, sickle cell disease, Duchenne muscular dystrophy, and the mitochondrial encephalopathies. You will then tackle chromosomal disorders ranging from Down syndrome to subtle microdeletion syndromes, complex multifactorial inheritance behind diabetes and cardiovascular disease, and the epigenetic mechanisms underlying imprinting disorders and cancer.

The course is designed for medical students, pathology residents, genetics and genetic counseling students, nursing and pharmacy learners, and any healthcare professional who needs solid conceptual grounding in genetic disease mechanisms. You should arrive with basic familiarity with DNA, RNA, and protein synthesis, and a general sense of human anatomy and physiology. By the end you will recognize inheritance patterns from pedigrees, predict molecular consequences of specific mutations, understand the genetic architecture of common diseases, apply pharmacogenomic principles, and engage thoughtfully with genetic counseling and screening programs.

What makes this course different is its focus on conceptual mastery rather than memorization, with every abstract principle anchored to concrete clinical examples and explained through clear visual frameworks. Enroll today and gain the genetic literacy that increasingly defines excellent twenty-first century medical practice.

What you'll learn

• Classify mutations by type and predict their effects on protein structure and function
• Distinguish loss-of-function, gain-of-function, dominant negative, and haploinsufficiency mechanisms
• Recognize the four classical Mendelian inheritance patterns from pedigrees and clinical presentations
• Identify hallmark single-gene disorders including Huntington, Marfan, cystic fibrosis, and Duchenne muscular dystrophy
• Explain how numerical and structural chromosomal abnormalities produce syndromes like Down, Turner, and DiGeorge
• Apply the multifactorial and polygenic frameworks to common diseases like diabetes and heart disease
• Describe the genetic and epigenetic basis of cancer, including hereditary syndromes like BRCA and Lynch
• Interpret pharmacogenomic principles for high-stakes drug-gene interactions
• Discuss the ethical and practical dimensions of genetic counseling, prenatal screening, and newborn screening
• Evaluate emerging gene and RNA-based therapies transforming the treatment of inherited disease

Course outline

33 on-demand lessons across self-paced modules. Expand each part to see what it covers.