Medical Genetics: notes and exam prep for MU Sofia

Fundamental Genetics16 topics

1. 1General aspects - genetics and medicine, personalised medicine, rare diseases, Human Genome Projectfree
2. 2Physical basis of heredity - chromosomes, organisation and behaviour in cell divisionfree
3. 3The human karyotype - heteromorphism, mitochondrial chromosomesfree
4. 4Molecular basis of heredity - genome, genes, expression, regulation, polymorphisms, repeatsfree
5. 5Epigenetic modifications of the genomefree
6. 6Aetiology of monogenic disorders - mutational process, types of mutations, mutagensfree
7. 7Functional effects of variants - quantitative, qualitative and complex effectsfree
8. 8Maintenance of genome stability and cell death - apoptosisfree
9. 9DNA mutations altering genes of tumorigenesis - oncogenes and tumour suppressor genesfree
10. 10Pathogenesis of monogenic disorders - enzymes, receptors, structural proteins, gene interactions, epistasisfree
11. 11Principal mechanisms of chromosomal imbalance - chromosomal mutations, fragility, mosaicismfree
12. 12Monogenic inheritance - autosomal, X-linked and Y-linked patternsfree
13. 13Non-traditional inheritance - dynamic mutations, imprinting, UPD, mitochondrial, digenic, penetrance, mosaicismfree
14. 14Pharmacogenetics and genomics - adverse drug reactionsfree
15. 15Population genetics - Hardy-Weinberg, linkage, association studies, genetic epidemiologyfree
16. 16Mechanisms of DNA damage repair - reversal, excision, SSBR, DSBRfree

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Medical Genetic Diagnostics5 topics

1. 17Cytogenetic methods - culture, FISH, chromosomal microarrays, ISCN
2. 18Molecular genetic methods - nucleic acid isolation, liquid biopsy, nomenclature, PCR, qPCR, ddPCR, MLPA, repeat expansion analysis
3. 19Molecular genetic methods - types of DNA sequencing
4. 20Molecular genetic methods - methylation analyses, epigenomics and other modifications
5. 21Genome editing

Medical Genetics in Clinical Practice5 topics

1. 22Genetic counselling - history taking, risk assessment, communication, pre-test and post-test counselling
2. 23Postnatal testing - indications, presymptomatic and predictive testing
3. 24Prenatal and preimplantation genetic testing
4. 25Genetic screening programmes
5. 26Treatment of genetic disorders - conventional, orphan drugs, targeted therapy, gene therapy

Dysmorphology and Teratogenesis and Genetic Disorders Associated with Congenital Developmental Anomalies7 topics

1. 27Congenital developmental anomalies - dysmorphology, aetiology, mechanisms, associations, sequences, teratogenesis
2. 28Chromosomal disorders of the sex chromosomes - structural and numerical abnormalities
3. 29Chromosomal disorders of the autosomes - trisomy 21, 18, 13, Wolf-Hirschhorn, cri-du-chat, Pallister-Killian
4. 30Microdeletion and microduplication syndromes - Williams, 22q11.2
5. 31Disorders of abnormal genomic imprinting - Prader-Willi and Angelman syndromes
6. 32RASopathies - Noonan syndrome
7. 33Chromatinopathies - Cornelia de Lange, Kabuki, Rubinstein-Taybi, Smith-Magenis

Genetic Disorders in Neurology4 topics

1. 34Intellectual disability syndromes - Fragile X and Rett syndromes
2. 35Disorders of coordination and movement - Friedreich ataxia, Huntington disease and other choreas
3. 36Neuromuscular disorders - muscular dystrophies, myotonic dystrophy, Duchenne and Becker, malignant hyperthermia
4. 37Hereditary motor and sensory neuropathies - PMP22, HNPP, motor neuron disorders, spinal muscular atrophy

Genetic Disorders in Ophthalmology and Otorhinolaryngology3 topics

1. 38Retinal disorders - non-syndromic retinopathies, Leber congenital amaurosis, RPE65, macular degeneration, Stargardt
2. 39Optic nerve disorders and other eye diseases - Leber hereditary optic neuropathy, colour vision disorders
3. 40Deafness - syndromic and non-syndromic

Genetic Disorders in Cardiology1 topics

1. 41Hereditary cardiomyopathies - HCM, DCM, ARVC, transthyretin amyloidosis

Genetic Disorders in Pulmonology3 topics

1. 42Cystic fibrosis
2. 43Primary ciliary dyskinesia
3. 44Alpha-1 antitrypsin deficiency

Genetic Disorders in Gastroenterology1 topics

1. 45Liver disorders - cholestatic diseases, hyperbilirubinaemias, biliary atresia, Crigler-Najjar, Gilbert, PFIC, bile acid synthesis disorders

Genetic Disorders in Nephrology and Urology3 topics

1. 46Congenital anomalies of the kidneys and urinary tract - renal agenesis, Potter sequence
2. 47Tubulointerstitial nephropathies (renal ciliopathies) - polycystic kidney disease
3. 48Glomerulopathies - Alport syndrome, steroid-resistant nephrotic syndrome

Disorders of Sex Development and Reproduction4 topics

1. 49Sex chromosome abnormalities - Turner, Klinefelter, others
2. 50Malformations of the internal and external genitalia
3. 51Disorders of sex development - gonadal dysgenesis, adrenogenital syndrome, SRY translocation, androgen receptor deficiency, androgen synthesis
4. 52Reproductive disorders - infertility and recurrent spontaneous pregnancy loss

Genetic Disorders in Dermatology2 topics

1. 53Skin disorders with unusual pigmentation and ichthyoses
2. 54Epidermolysis bullosa - simplex, junctional, dystrophic

Disorders of Connective Tissue and the Musculoskeletal System3 topics

1. 55Disorders of connective tissue and the musculoskeletal system - Ehlers-Danlos and Marfan syndromes
2. 56Disorders of bone density - osteogenesis imperfecta and osteopetrosis
3. 57Osteochondrodysplasias - achondroplasia, FGFR3-related disorders, SHOX-related disorders

Genetic Disorders in Endocrinology3 topics

1. 58Adrenal gland disorders - congenital adrenal hyperplasia
2. 59Disorders of glucose and insulin homeostasis - monogenic diabetes mellitus
3. 60Hypothalamic and pituitary disorders - hypopituitarism, Kallmann syndrome

Metabolic Disorders7 topics

1. 61Disorders of amino acid and peptide metabolism - aminoacidopathies, organic acidurias, phenylketonuria, tyrosinaemia
2. 62Disorders of carbohydrate metabolism - galactosaemia, glycogen storage diseases
3. 63Disorders of fatty acid, carnitine and ketone body metabolism - long-chain and medium-chain defects
4. 64Disorders of energy metabolism and mitochondrial disorders - PDH deficiency, creatine deficiency, mtDNA defects, MELAS, mtDNA depletion
5. 65Disorders of lipid metabolism - peroxisomal disorders, Zellweger spectrum, lipoprotein disorders, familial hypercholesterolaemia, hypertriglyceridaemias
6. 66Disorders of complex molecule degradation and lysosomal diseases - sphingolipidoses, Gaucher, Fabry, Niemann-Pick, mucopolysaccharidoses, Hurler-Scheie
7. 67Disorders of trace element and mineral metabolism - Wilson disease, haemochromatosis

Genetic Disorders in Immunology3 topics

1. 68Primary immunodeficiencies - SCID, congenital neutropenias, Bruton agammaglobulinaemia, chronic granulomatous disease
2. 69Inflammatory diseases - familial Mediterranean fever
3. 70Hereditary angioedema

Genetic Disorders in Haematology3 topics

1. 71Haemoglobinopathies - alpha-thalassaemia, beta-thalassaemia and sickle cell disease
2. 72Other hereditary anaemias - erythrocyte membrane defects (spherocytosis), Diamond-Blackfan syndrome
3. 73Hereditary coagulation disorders - haemophilia, von Willebrand disease

Cancer Genetics6 topics

1. 74Solid tumours in childhood - retinoblastoma, neuroblastoma, Wilms tumour
2. 75Neurocutaneous syndromes - neurofibromatosis types 1 and 2, tuberous sclerosis
3. 76Hereditary breast and ovarian cancer
4. 77Colorectal and other gastrointestinal cancers - Lynch syndrome, polyposis syndromes, Peutz-Jeghers, hereditary diffuse gastric cancer
5. 78Other cancer predisposition syndromes - Li-Fraumeni syndrome
6. 79Disorders caused by DNA repair defects - xeroderma pigmentosum, Cockayne, ataxia-telangiectasia, Fanconi anaemia