Medical Genetics and Genomic Medicine: From Diagnosis to Treatment I
The objective of this course is to discuss how advances in genetics have impacted genetic disorders, from their diagnosis to treatment, by building upon the foundations learned in GENE 500. Topics include Smith-Lemli-Opitz syndrome, Rasopathies, neurocutaneous syndromes, muscular dystrophies, cohesinopathies, connective tissue disorders, ciliopathies, and psychosocial and genetic counseling issues in the era of genomic medicine. The course is designed as part of the required curriculum for residents, Fellows, and students preparing for the Genetics Certification Boards given by the American Board of Medical Genetics and the American Board of Genetic Counseling.
This is the first part of a two-part course. Registration is required separately for each part of the course.
The above course(s) or permission from the instructor.
- Appreciate how advances in genetics have impacted genetic disorders, from their diagnosis to treatment
- Acquire skills to conduct a dysmorphology examination