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Medicine · Year 3 · MU Sofia

Genetics

Genetics is taught in Year 3 of the Medicine degree at the Medical University of Sofia, and its syllabus of 65 topics runs through seven chapters: molecular and cytogenetic basis and methods, inheritance and pedigree analysis, a large block on monogenic diseases, mitochondrial and chromosomal diseases, multifactorial diseases and cancer genetics, congenital anomalies with reproductive genetics and counselling, and finally pharmacogenetics and therapy. AceMed has a note for every topic, about four hours of reading in all, holding 451 labelled pictures and 77 tables. Many notes take disorders in turn through genetics, pathophysiology, clinical features, diagnosis and management, often ending with side-by-side comparison tables. There are also 951 flashcards.

The full MU Sofia syllabus for Genetics, Medicine, Year 3: 65 topics, every one with a free study note (4 hours of reading), and 951 flashcards. Updated 29 October 2026.

syllabus topics
65
free notes
65
flashcards
951
of reading
4 h
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Syllabus

The topics in the order of the MU Sofia syllabus. Each one with a note opens in AceMed once you're signed in.

Molecular and cytogenetic basis. Methods 11 topics

  1. 1. Organization of the nuclear genome. Structure and function of genes. Expression of genetic information. Metabolism of mRNA4 min · 15 cards
  2. 2. Regulation of gene activity. Epigenetics.3 min · 14 cards
  3. 3. Organization of the mitochondrial genome.5 min · 16 cards
  4. 4. Microscopic and submicroscopic structure and function of chromosomes. Chromosomal morphology. Normal human karyotype. Chromosomal heteromorphism.4 min · 15 cards
  5. 5. Mechanisms of DNA repair: direct repair; excision repair; single-strand break repair (SSBR); double-strand break repair (DSBR).4 min · 15 cards
  6. 6. Monogenic defects. Mutagenesis. Germline and somatic mutations. Gonadal and somatic mosaicism. Definition and classification of types of mutations in the human genome. Phenotypic expression of mutations.6 min · 14 cards
  7. 7. Chromosomal mutations: numerical and structural chromosomal aberrations. Marker chromosomes.3 min · 14 cards
  8. 8. Molecular genetic methods. PCR, allele-specific polymerase chain reaction. Quantitative fluorescence polymerase chain reaction (QF-PCR). Real-time PCR. RFLP (Restriction Fragment Length Polymorphism) analysis. Allele-specific oligonucleotides (ASOs).4 min · 14 cards
  9. 9. Gene sequencing: Sanger sequencing, next-generation sequencing (NGS).4 min · 14 cards
  10. 10. Methods for detection of deletions and duplications: MLPA; molecular karyotyping (aCGH).4 min · 16 cards
  11. 11. Cytogenetic methods. FISH (fluorescence in situ hybridization).3 min · 14 cards

Inheritance and pedigree analysis 4 topics

  1. 12. Clinical genealogical (pedigree) method. Types of inheritance of monogenic defects: autosomal dominant and autosomal recessive.3 min · 15 cards
  2. 13. Pedigree Method & Monogenic Inheritance: Sex-Linked, Sex-Limited, and Sex-Influenced3 min · 14 cards
  3. 14. Non-traditional (non-Mendelian) inheritance: genomic imprinting, uniparental disomy, dynamic mutations, gonadal mosaicism, incomplete penetrance, variable expressivity, pleiotropy, de novo mutations.4 min · 13 cards
  4. 15. Inheritance of Chromosomal Aberrations: Translocations, Inversions, and Mosaicism3 min · 14 cards

Monogenic diseases 24 topics

  1. 16. Genetic anemias: thalassemias.4 min · 15 cards
  2. 17. Genetic anemias: abnormal hemoglobins (HbS); anemias in erythrocyte membrane defects (hereditary spherocytosis); anemias in enzyme defects (pyruvate kinase deficiency, G6PD deficiency).5 min · 14 cards
  3. 18. Hypoplastic anemias: Fanconi anemia, Blackfan-Diamond anemia.3 min · 14 cards
  4. 19. Diseases in amino acid metabolism defects: aminoacidopathies; organic acidopathies; urea cycle defects.4 min · 15 cards
  5. 20. Diseases of impaired carbohydrate metabolism: galactosemia; glycogen storage disorders.4 min · 13 cards
  6. 21. Diseases of Impaired Lipoprotein Metabolism: Familial Hypercholesterolemia (FH)3 min · 15 cards
  7. 22. Lysosomal Diseases: Mucopolysaccharidoses, Sphingolipidoses, Mucolipidoses3 min · 14 cards
  8. 23. Hereditary Connective Tissue and Bone System Diseases: Osteogenesis Imperfecta (OI)3 min · 15 cards
  9. 24 – Hereditary Connective Tissue Diseases: Ehlers–Danlos Syndrome & Marfan Syndrome5 min · 15 cards
  10. 25 –General characteristics and classification of congenital immunodeficiencies. Severe combined immunodeficiency: adenosine deaminase deficiency (ADD). Combined immunodeficiency syndromes: Wiskott-Aldrich syndrome (WAS).5 min · 15 cards
  11. 26. Congenital Immunodeficiencies: Humoral and Immune Regulation Defects5 min · 15 cards
  12. 27. Congenital Immunodeficiencies: Phagocyte and Complement Defects5 min · 14 cards
  13. 28. Neuromuscular Diseases: Spinal Muscular Atrophy (SMA)4 min · 14 cards
  14. 29. Neuromuscular Diseases: Hereditary Motor–Sensory Neuropathies (HMSN)4 min · 16 cards
  15. 30. Neuromuscular Diseases: Muscular Dystrophies (Dystrophinopathies and Limb-Girdle Muscular Dystrophy)6 min · 14 cards
  16. 31. Monogenic Diseases with Pulmonary Manifestations: Cystic Fibrosis and Alpha-1 Antitrypsin Deficiency5 min · 14 cards
  17. 32. Hereditary Hearing Loss (Non-Syndromic and Syndromic)5 min · 14 cards
  18. 33. Monogenic skin diseases: epidermolysis bullosa, ichthyosis5 min · 15 cards
  19. 34. Genetic disorders of blood coagulation: hemophilia A, hemophilia B, von5 min · 15 cards
  20. 35. Monogenic Ocular Diseases: Retinitis Pigmentosa, Congenital Color Vision Disorders, Cataracts, Aniridia5 min · 16 cards
  21. 36. Monogenic Kidney Diseases: Autosomal Dominant and Autosomal Recessive Polycystic Kidney Disease4 min · 14 cards
  22. 37. Monogenic Defects of DNA Repair: Ataxia-Telangiectasia, Xeroderma Pigmentosum, Fanconi Anemia, Bloom Syndrome4 min · 16 cards
  23. 38. Monogenic Endocrine Disorders: Congenital Adrenal Hyperplasia, Pituitary Dwarfism, Congenital Hypothyroidism4 min · 16 cards
  24. 39. Hereditary Diseases Caused by Dynamic Mutations: Huntington’s Disease, Myotonic Dystrophy, Fragile X (Martin–Bell) Syndrome4 min · 14 cards

Mitochondrial and chromosomal diseases 6 topics

  1. 40. General characteristics of mitochondrial diseases. Leber hereditary optic neuropathy (LHON), MERRF syndrome, MELAS syndrome, NARP syndrome, Leigh syndrome, Kearns-Sayre syndrome.5 min · 15 cards
  2. 41. Chromosomal diseases caused by sex chromosome aberrations: monosomy X, Klinefelter syndrome, Fraccaro syndrome, polysomy X, polysomy Y.5 min · 15 cards
  3. 42. Chromosomal diseases caused by numerical autosomal aberrations: trisomy 21, trisomy 13, trisomy 18.4 min · 16 cards
  4. 43. Chromosomal Diseases Associated with Structural Autosomal Aberrations5 min · 13 cards
  5. 44. Syndromes caused by imprinting disorders: Prader-Willi syndrome and Angelman syndrome.3 min · 16 cards
  6. 45. Contiguous gene syndromes: DiGeorge syndrome; Williams syndrome.3 min · 14 cards

Multifactorial diseases and cancer genetics 5 topics

  1. 46. General characteristics of multifactorial diseases. Genetic epidemiology. Family, twin and adoptive studies. Genetic polymorphisms: RFLP, VNTRs, SSRs, SNPs.5 min · 15 cards
  2. 47. Genetic mechanisms of tumorigenesis: general cellular and molecular characteristics of the cancer cell; leading ("driver") mutations. Proto-oncogenes: normal function and mechanisms of transformation into oncogenes…5 min · 15 cards
  3. 48. Hereditary cancer syndromes - general characteristics. Syndromes with genetic predisposition to colorectal carcinoma: familial adenomatous polyposis (FAP); hereditary nonpolyposis colon cancer (HNPCC); Cowden syndrome.5 min · 16 cards
  4. 49. Hereditary cancer syndromes - general characteristics. Hereditary breast and ovarian cancer.2 min · 14 cards
  5. 50. Hereditary cancer syndromes - general characteristics. Multiple endocrine neoplasia. Familial melanoma. Retinoblastoma.3 min · 16 cards

Congenital anomalies, reproductive genetics and counselling 6 topics

  1. 51. Congenital anomalies – classification and Etiology. Dysmorphology and teratogenesis.4 min · 14 cards
  2. 52. Reproductive genetics. Genetic causes of male and female infertility. Genetic tests for infertility. Spontaneous pregnancy loss and stillbirths.4 min · 15 cards
  3. 53. Disorders of Sexual Development (DSD)4 min · 15 cards
  4. 54. Preimplantation Genetic Tests.4 min · 15 cards
  5. 55. Screening for genetic diseases - general principles. Newborn screening. Prenatal screening (BCS and NIPT). Heterozygote carrier screening.4 min · 16 cards
  6. 56. Genetic counseling.4 min · 13 cards

Pharmacogenetics and therapy 9 topics

  1. 57. Pharmacogenetics and pharmacogenomics. Rare monogenic pharmacogenetic defects. Мalignant hyperthermia, atypical butyrylcholine esterase.4 min · 15 cards
  2. 58. Pharmacogenetics and pharmacogenomics. Polymorphic monogenic pharmacogenetic defects. G6PD-deficiency; deficiency of: TPMT, DPYD, NAT1, and NAT2; alcohol dehydrogenase and aldehyde dehydrogenase deficiency.4 min · 14 cards
  3. 59. Pharmacogenetics and pharmacogenomics. Polymorphic monogenic pharmacogenetic defects. CYP450 superfamily variants: CYP2D6, CYP2C9, CYP2C19, CYP3A4. FGD in individuals with genetic diseases.4 min · 12 cards
  4. 60. Conventional therapy of genetic diseases. Orphan drugs.4 min · 14 cards
  5. 61. Targeted therapy - general characteristics. Targeted therapy for colorectal carcinomas and gastrointestinal stromal tumors (GIST).4 min · 15 cards
  6. 62. Targeted therapy - general characteristics. Targeted therapy for breast and ovarian cancer.4 min · 13 cards
  7. 63. Targeted therapy - general characteristics. Targeted therapy for melanoma, prostate cancer, and non-small cell lung cancer (NSCLC).3 min · 15 cards
  8. 64. Targeted therapy - general characteristics. Targeted therapy in chronic myeloid leukemia (CML).3 min · 16 cards
  9. 65. Gene therapy - principles, possibilities, applications.5 min · 15 cards

Other Year 3 subjects

  • Internal Medicine (Practical)30 notes
  • Internal Medicine (Theory)58 notes
  • Microbiology113 notes
  • Pharmacology93 notes

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