MODERN CLINICAL GENETICS: HOW TO APPROACH A RAPIDLY CHANGING FIELD

GENETICS/MDGENET 565

Principles, problems, and methods of modern human genetics. Focuses on how researchers discover the genetics of diseases and how those discoveries are used to improve clinical practice. Surveys aspects of (i) the molecular function of the human genome, (ii) the basic principles of human genetics including statistical genetics, quantitative genetics, and genomic variation in human populations, (iii) the genetics of rare disorders and common diseases, and genomic analysis approaches, including genome-wide association studies and sequencing, and (iv) how genetics are used in medicine and discussions covering ethical considerations of human genomic data.

GENECSLR 740

Introduction to clinical laboratory genetics with a particular focus on the relevance of human cytogenetics and molecular genetics to the practice of medical genetics. Covers the fundamental principles of human cytogenetic and molecular genetics including human chromosome structure, function, cytogenetic and molecular nomenclature, and current clinical laboratory testing methods relevant to medical genetic professionals. Apply cytogenetic and molecular genetic understanding to clinical scenarios to help diagnosis and manage individuals with genetic disease.

GENETICS 605

The use of genetics in medicine has experienced significant growth over the past 50 years, identifying risk genes, and devising diagnostic tests and therapies based on this knowledge for specific clinical disorders such as cystic fibrosis, achondroplasia, and Retts syndrome. MDs and biomedical scientists from UW Hospital and Clinics, the School of Medicine and Public Health, and other UW units will present lectures in this field followed by question-answers sessions. Other class sessions will be devoted to student presentations and open discussion of research literature.

PATH 949

The genome impacts human health and disease from the moment of conception throughout growth, development, and aging. This course offers a comprehensive overview of clinical laboratory testing in the fields of medical genetics and public health. Topics include how genetic testing is integrated into patient care, including prenatal genetics, newborn screening, genetic testing in children and adults, and oncology genetics. Students will develop a strong foundational knowledge of basic genetics principles, identify indications for genetic testing, interpret population screening results and the implications for public health, assess the utility of diagnostic testing, and recognize the limitations of genetic testing and clinical laboratory medicine. It is anticipated that students will incorporate these concepts, knowledge, experiences, and evidence in their future clinical practice.

GENECSLR 721

Integrative introduction to the mechanisms of clinical genetic disease at the molecular, individual and population level.