Foundation Sciences — Genetics

DNA Structure

Chromosomes

Mendelian Inheritance

Autosomal Dominant Disorders

Autosomal Recessive Disorders

X-Linked Disorders

Mitochondrial Inheritance

Genetic Mutations

Genetic Testing

Pharmacogenomics

Chromosome Structure and Karyotyping

Non-Disjunction and Aneuploidy

Down Syndrome (Trisomy 21)

Edwards Syndrome (Trisomy 18)

Patau Syndrome (Trisomy 13)

Turner Syndrome (45,X)

Klinefelter Syndrome (47,XXY)

Sex Chromosome Aneuploidies (XYY, Triple X)

Robertsonian Translocations

Reciprocal Translocations

Microdeletion Syndromes

DiGeorge Syndrome (22q11.2 Deletion)

Williams Syndrome

Prader–Willi and Angelman Syndromes (Imprinting)

Cri du Chat Syndrome (5p Deletion)

Cystic Fibrosis

Sickle Cell Disease (Genetics)

Thalassaemias

Phenylketonuria and Newborn Screening

Lysosomal Storage Disorders

Duchenne and Becker Muscular Dystrophy

Haemophilia A and B

Fragile X Syndrome

Trinucleotide Repeat Disorders

Huntington Disease

Neurofibromatosis Type 1

Hereditary Cancer Syndromes (Lynch, BRCA)

Tumour Suppressor Genes and Oncogenes

Multiple Endocrine Neoplasia

Genomic Imprinting

Epigenetics

Mitochondrial Genetics

Multifactorial Inheritance

Genetic Testing Modalities

Antenatal Genetic Screening (NIPT)

Genetic Counselling

Pharmacogenomics in Practice

Precision and Genomic Medicine

Population Genetics (Hardy-Weinberg)

Gene Expression and Regulation

DNA Repair Disorders

Gene Therapy and CRISPR