CLINICAL CASES IN MEDICAL GENETICS

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.

MDGENET 911

Genetics and genomics are rapidly evolving fields. In modern clinical care settings, clinicians will be exposed to genetic and genomic data, including that brought by patients, and knowing how to read genetic and genomic data is increasingly necessary in clinical practice. Genetics and genomics in a clinical setting spans a wide range of topics including diagnosis and treatment of genetic diseases. Familiarity with clinical genetic analysis, and the genetic approaches used in basic science, helps medical students better understand genetic disease background. Learn how to bridge basic concepts of human genetics and clinical genetics (actual diseases). Emphases will include research into human genetic diseases, including designing genetic testing, using model organisms and/or cell culture systems, and the development of genetic testing technologies.

GENECSLR 731

An advanced course covering clinical genetic concepts including phenotype, genetic mechanisms, approach to diagnosis (medical, clinical and genetic testing protocols), and natural history (including management approaches).

GENECSLR 721

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

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.