Medical Genetics Genomics — Residency

Medical Genetics Genomics: 78 lectures in Residency (Residency). Structure of the Human Genome: From Nucleotides to Chromosomes · Chromosome Structure, Banding, and Karyotype Analysis · Fluorescence In Situ Hybridization (FISH) and Its Clinical Applications · Chromosomal Microarray Analysis: Copy N…

  1. Structure of the Human Genome: From Nucleotides to Chromosomes
  2. Chromosome Structure, Banding, and Karyotype Analysis
  3. Fluorescence In Situ Hybridization (FISH) and Its Clinical Applications
  4. Chromosomal Microarray Analysis: Copy Number Variants in Clinical Practice
  5. Mechanisms of Chromosomal Rearrangement and Genomic Instability
  6. Epigenetics and Imprinting Disorders
  7. Autosomal Dominant Inheritance: Penetrance, Expressivity, and Anticipation
  8. Autosomal Recessive Inheritance and Carrier Screening
  9. X-Linked Inheritance and Dosage Compensation
  10. Mitochondrial Genetics and Maternal Inheritance
  11. Mosaicism: Somatic, Germline, and Confined Placental
  12. Variant Classification: ACMG/AMP Guidelines in Practice
  13. Polygenic Risk Scores: Science, Utility, and Limitations
  14. Genome-Wide Association Studies: Methodology and Interpretation
  15. Gene-Environment Interaction in Common Disease
  16. Multifactorial Inheritance in Birth Defects
  17. Hereditary Breast and Ovarian Cancer: BRCA1/2 and Beyond
  18. Lynch Syndrome: Diagnosis, Surveillance, and Immunotherapy Implications
  19. Li-Fraumeni Syndrome and TP53 Germline Variants
  20. Familial Adenomatous Polyposis and Polyposis Syndromes
  21. Hereditary Cancer Predisposition in Pediatrics
  22. Tumor Genomic Profiling and Somatic Variant Interpretation
  23. Incidental Germline Findings from Tumor Sequencing
  24. Cell-Free DNA Screening: Performance, Pitfalls, and Counseling
  25. Invasive Prenatal Diagnosis: Amniocentesis and CVS
  26. Preimplantation Genetic Testing (PGT-A, PGT-M, PGT-SR)
  27. Expanded Carrier Screening: Pan-Ethnic Panels
  28. Prenatal Diagnosis of Chromosomal Abnormalities: Trisomy 13, 18, and 21
  29. Fetal Structural Anomalies and Genetic Etiologies
  30. Recurrent Pregnancy Loss: Genetic Evaluation
  31. Newborn Screening: Principles, Methodology, and Follow-Up
  32. Amino Acid Disorders: Phenylketonuria as a Paradigm
  33. Organic Acidemias: Methylmalonic and Propionic Acidemia
  34. Urea Cycle Defects: Diagnosis and Acute Management
  35. Fatty Acid Oxidation Disorders: MCADD and VLCADD
  36. Lysosomal Storage Disorders: Enzyme Replacement and Substrate Reduction
  37. Glycogen Storage Diseases: Diagnosis and Dietary Management
  38. Mitochondrial Respiratory Chain Disorders: A Diagnostic Challenge
  39. Huntington Disease: Predictive Testing and Management
  40. Spinal Muscular Atrophy: Newborn Screening and Gene Therapy Era
  41. Hereditary Neuropathies: Charcot-Marie-Tooth Disease Spectrum
  42. Neurodevelopmental Disorders: Genetic Architecture and Testing Strategy
  43. Epilepsy Genetics: From Channelopathies to Precision Treatment
  44. Hypertrophic Cardiomyopathy: Sarcomere Gene Mutations and Screening
  45. Familial Hypercholesterolemia: Underdiagnosed and Undertreated
  46. Inherited Arrhythmia Syndromes: Long QT, Brugada, and CPVT
  47. Hereditary Aortopathies: Marfan Syndrome and Related Disorders
  48. Dilated Cardiomyopathy: Genetic Contributions and Family Screening
  49. Ehlers-Danlos Syndromes: Classification and the Hypermobility Spectrum
  50. Osteogenesis Imperfecta: Spectrum, Diagnosis, and Emerging Therapies
  51. Skeletal Dysplasias: A Systematic Approach
  52. Next-Generation Sequencing: Platforms, Pipelines, and Quality Metrics
  53. Whole Exome vs. Whole Genome Sequencing: Clinical Applications
  54. Long-Read Sequencing and Optical Genome Mapping
  55. RNA Sequencing as a Diagnostic Tool
  56. Bioinformatics for the Clinical Geneticist
  57. Pharmacogenomics Fundamentals: CYP450 Enzymes and Drug Metabolism
  58. HLA Pharmacogenomics and Adverse Drug Reactions
  59. Preemptive Pharmacogenomic Testing: Implementation and Barriers
  60. Pharmacogenomics in Oncology: Germline Variants Affecting Chemotherapy
  61. Principles of Genetic Counseling: Nondirectiveness and Shared Decision-Making
  62. Cascade Testing and Family Communication
  63. Genetic Counseling for Diverse Populations
  64. Uncertain Results in Genomic Medicine: Counseling for VUS
  65. Genetic Information Nondiscrimination Act (GINA) and Its Gaps
  66. Incidental and Secondary Findings in Genomic Sequencing
  67. Direct-to-Consumer Genetic Testing: Clinical Implications
  68. Genomic Data Privacy, Consent, and Biobanking
  69. Equity and Access in Genomic Medicine
  70. Genetic Testing in Minors: Ethical Frameworks
  71. Genome-Informed Newborn Screening: Promise and Controversy
  72. Gene Therapy: Vectors, Strategies, and Clinical Milestones
  73. CRISPR-Based Therapeutics: From Bench to Bedside
  74. Antisense Oligonucleotides and RNA Therapeutics
  75. Rare Disease Diagnosis: The Undiagnosed Diseases Approach
  76. Artificial Intelligence in Variant Interpretation and Phenotyping
  77. Somatic Gene Therapy vs. Germline Editing: Where to Draw the Line
  78. Implementing Genomic Medicine in Health Systems