🧬 Genetics

Basics

1. Mutations and Their Consequences
2. Mitochondrial Genes
3. Mendelian Patterns of Genetic Inheritance
4. Non-Classical Patterns of Inheritance
5. Genomic Imprinting
6. Translocations in Genetics and Their Inheritance Patterns
7. Consanguinity and Its Effect on Genetics
8. Lyonisation (X-Chromosome Inactivation)
9. Mosaicism and Chimerism

Specific Genetic Syndromes

1. Down Syndrome (Trisomy 21)
2. Edwards Syndrome (Trisomy 18)
3. Patau Syndrome (Trisomy 13)
4. Turner Syndrome
5. Klinefelter Syndrome (47,XXY)
6. DiGeorge Syndrome (22q11.2 Deletion Syndrome)
7. Williams Syndrome
8. Fragile X Syndrome
9. Angelman Syndrome and Prader-Willi Syndrome (15q11-13 Imprinting Disorders)

Genetic Diagnostics

1. Karyotyping
2. Cytogenetic Analysis
3. Microarray and DNA Sequencing
4. Exome Sequencing
5. Next-Generation Sequencing (NGS)
6. Testing for Single Gene Disorders
7. Multiplex Ligation-Dependent Probe Amplification (MLPA)
8. NAAT
9. Genetic Testing in Intellectual Disability

Genetics in clinical practice

1. Principles of Genetic Counselling
2. Prevention of Genetic Disorders
3. Genetic Counselling in Down Syndrome
4. Genetic Counselling in DMD
5. Long-Term Follow-up of Down Syndrome
6. Classification of Birth Defects
7. Approach to a dysmorphic child
8. Pedigree charts
9. Ethical issues in genetic testing

Prenatal and Reproductive Genetics

1. Prenatal Diagnosis of Downs Syndrome and other Trisomies
2. Preimplantation Genetic Testing

Therapeutic Approaches

1. Enzyme Replacement Therapy (ERT)
2. Gene Therapy in Children
3. CRISPR
4. Somatic and Germline Gene editing