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Learn how biomedical advances have the potential to revolutionise drug development, treatment, and disease prevention: where are we now, and what does the future hold? This course will provide short primers in genetics as well as mechanisms underlying drug response variability. A series of case studies will be used to demonstrate how genetics is being used to improve diagnoses and personalise treatment in both rare and common diseases. The ethical and operational issues surrounding the implementation of large-scale genomic sequencing in clinical practise will be discussed.
After completing this course, students will be able to:
- Understand how genetic variants can contribute to human disease susceptibility
- How to select between drug therapies based on genetic factors
- The vast majority of genetic variants discovered through modern sequencing have unknown functional consequences.
Syllabus :
1. Introduction to personalized medicine
- Genetics Definitions
- Types of Genetic Variants
- What is a Good Study?
- What is a Good Test?
- Introduction to Drug Therapy and General Mechanisms Underlying Variability in Drug Responses
- Variability in Drug Therapy
- Drug Metabolism & Transport
- Genetic Variability in Drug-Handling Molecules
- The Promise of Personalized Medicine
2. Studying genetic variation
- Family History and Inheritance Patterns
- Ancestry: Genetic Variation Across Generations and Geography
- Finding Disease-Associated Genes: Linkage
- From Phenotype to Genotype and Back: Studying Heart Disease in Families
- Genome-Wide Association
- Sequencing
- History of Sequencing Technologies
3. Case studies in personalized medicine
- From rare to common disease: familial hypercholesterolemia
- Using Genomics to Find New Drug Targets: Familial Hypercholesterolemia
- Muscle Pains During Statin Therapy (Myopathy)
- HLA-Mediated Immune Reactions (Skin Rash)
- Long QT Syndromes
- Studying Cardiac Arrhythmias in Cells
- A Second Heart Attack a Month After a First
- Headache During Venlafaxine (Antidepressant)
- Respiratory Arrest After Tonsillectomy
- A Bleeding Complication 5 Days After Starting Warfarin
- Genotyping
- Drug Metabolism and Variable Drug Responses – Four More Examples
- Cystic Fibrosis
- Marfan Syndrome
- A Case of Idiopathic Heart Failure
- Personalizing Care in Neuropsychiatric Disease
- Personalizing Care in Diabetes
- Genomics to Subtype Cancer
- A Family Member With Breast Cancer
- A Family Member With Colon Cancer
- Organizing Infrastructure to Support Genetic Testing Decisions
5. Personalized medicine in a system of care
- Where We Are Now
- Where We Are Going
- Using iPSCs: Drug Discovery and Drug Efficacy
- Generating iPSCs
- Electronic Medical Records & The Learning Healthcare System (Discovery)
- Using Electronic Records to Personalize Care (Delivery)
- Using the EMR to Ascertain Patients for Genetic Studies
- Biobanking & DNA Extraction at BioVU
- Personalized Medicine is a Team Sport
