Medical Human Genetics
1. The student goals of this one-term course are to:
- Explore the study of heredity in humans.
- Become proficient in the interpretation of genetic disease patterns in human families.
- Understand the clinical approaches to diagnosing and treating human genetic disease.
- Understand human molecular genetic and genomic analytic approaches.
2. The Central Question: What makes human genetics unique?
- Modern eukaryotic genetic analysis has exploded in the last 70-100 years.
- The structure of the human genome is complex.
- Many genetic diseases are not caused by just one problem.
- Genetic diseases are incurable because they target the DNA of every cell of a person.
- The approaches used by scientists to identify and study genetic disease are complex.
- The Human Genome project promises to identify the genetic basis for many diseases.
- The search for treatments for these diseases is a major goal of clinical geneticists.
3. How we will study this subject:
I. Classroom Instruction:
- Classical analysis techniques: Punnett squares and Probabilities for 1-gene inheritance
- Human Heredity I: Genetic diseases and pedigrees for 1-gene disorders
- Human Heredity II: Chromosome structure and basis for abnormalities in it
- Human Heredity III: Gene structure and molecular basis for genetic abnormality•
- Analysis of Genetic Diseases: Karyotyping, Clinical Cytogenetics, Molecular Analysis
- Treatment and Prevention: Protein Replacement, Gene Therapy, Stem Cells, IVF
- Characterization of the Human Genome: Approaches, Database Exploration
- Ethics of: Genetic Counseling, Genomics, Therapies, Prevention
II. Final Culmination Project: Written and Oral Presentation
Students will develop an original proposal for treatment of one human genetic disease.
4. Prerequisites and Requirements: Successful completion of Modern Living Environment
or equivalents, Biology/LE Regents Proficiency. Offered to students in Grades 10, 11 and 12. Spring term only.
5. Grading Policy and Assessments: 70% Exams including cumulative final, 20% Final Project (oral presentation and written report),10% Homework and regular assessment in class. This course is one of several possible prerequisites for Hospital Internship
. It is also a prerequisite for AP Biology.