Units > Medical Genetics > Course Materials
Introduction to Genetics:
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- Understand the principles of hereditary
- Appreciate the structure & function of DNA
- Remember how genetic diseases occur
- Appreciate the future use of genetic manipulation
Case 2 - Overview of Genetic Diseases:
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- Basics of Inheritance
- Mendel Laws of Inheritance
- Identifying a disease as a "Genetic Disease"
- Screening for Genetic Diseases
- Screening tests for Down Syndrome
Case 2 - Chromosomal Abnormalities:
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- Structure & Function of DNA
- Chromosomes & Genes
- Chromosomal Abnormalities
- Numerical Abnormalities
- Structural Abnormalities
Case 2 - Genetic Screening:
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- The concept of Genetic Analysis
- Types of screening for different scenarios
- The value of screening to the health community
- New techniques for screening: PGD and NIPT
Case 3 - Genetic Counseling:
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- The basis of Genetic Counseling
- The need and value of counseling in families
- "When", "Why", and "Who"
- Case study: Down Syndrome
Case 3 - Diagnosing a Genetic Disease:
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- What is a Genetic Disease
- Types of Genetic Defects
- Establishing a Genetic Diagnosis
- Molecular DNA Technology
- Case Study: Cystic Fibrosis
Case 3 - Bad Genes, Bad Proteins:
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- The Flow of Information (Genetic Code)
- Promoter Regions and Regulatory Elements
- Transcription and RNA Processing
- Translation & Post-Translational Modifications
Case 3 - Interpretation of Family Pedigrees: (Click to view) (Download the article)
- Identify different shapes in family pedigrees
- Obtain clinical information from a family pedigree
- Construct a family pedigree from a case report
Case 7 - Cancer Genetics:
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- Understand how cells grow and differentiate
- Appreciate the cell cycle & its regulation
- Discuss how mutations cause cancer
- Discuss the roles of tumor-related genes
- Explain how cancer genetics affect treatment
► References:
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Copyright: Genetic Alliance; District of Columbia Department of Health. Understanding Genetics: A District of Columbia Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2010 Feb 17. Chapter 1, Genetics 101. (Link)
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Copyright: The National Institute of General Medical Sciences (NIGMS), U.S. Department of Health and Human Services, NIH Publication No.10-662, Revised April 2010 (Link)
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Copyright: Aging and Down Syndrome: A HEALTH & WELL-BEING GUIDEBOOK. National Down Syndrome Society. (Link)
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► Essential Resources:
- Peter Turnpenny & Sian Ellard. Emery's Elements of Medical Genetics, 14th Edition, 2011. (Chapter 2, Page 13) + (Chapter 3, Page 35) + (Chapter 3, Page 42) + (Chapter 7, Page 110) + (Chapter 18, Page 273)
- Antonarakis, Stylianos E., et al. "Chromosome 21 and down syndrome: from genomics to pathophysiology." Nature Reviews Genetics 5.10 (2004): 725-738.
- Chris Kaiser, Gerald Fink, Leona Samson, and Michelle Mischke. 7.03 Genetics, Fall 2004. (MIT OpenCourseWare: Massachusetts Institute of Technology) (LINK)
- Genetic Alliance; District of Columbia Department of Health. Understanding Genetics: A District of Columbia Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2010 Feb 17. Chapter 1, Genetics 101. (LINK)
- Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {602421} (LINK)
- Clancy, S. & Shaw, K. (2008) DNA deletion and duplication and the associated genetic disorders. Nature Education 1(1):23 (LINK)
- O'Connor, C. (2008) Chromosomal abnormalities: Aneuploidies. Nature Education 1(1):172 (LINK)
- National Library of Medicine. The types of Genetic Screening (LINK)
- Douch, Andrew. "Pedigree Analysis 1: How to solve a genetic pedigree No. 1". YouTube (LINK)
► Additional Resources:
- Difference between Meiosis & Mitosis:
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- Genetic Diagnosis: DNA Microarrays and Cancer
- Egton Medical Information Systems UK: Prenatal Screening for Down's Syndrome
- Nature Education: Translation: DNA to mRNA to Protein
- Nature Education: Cytogeneticists can now go "FISH-ing" for chromosomal abnormalities
- DNA Transcription © CSHL) (
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- mRNA Translation (© CSHL)
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