Medical Genetics and Genomics

DNA (deoxyribonucleic acid) is the genetic material that carries instructions for an organism's development and characteristics, inherited from both parents.

Genomics is the study of the entire set of genes in an organism, including their interactions and variations, and how they affect health and disease.

Polymerase Chain Reaction (PCR) is a widely used genetic testing technique that amplifies specific DNA sequences, allowing for the detection of genetic mutations and variations.

Mendelian disorders are genetic disorders caused by mutations in a single gene, following the principles of Mendelian inheritance patterns.

Down Syndrome is a genetic disorder caused by an extra copy of chromosome 21, resulting in distinct physical and cognitive characteristics.

Gene Therapy involves transferring genetic material into a patient's cells to treat genetic disorders or diseases by correcting faulty genes or introducing functional ones.

Genome-Wide Association Studies (GWAS) analyze genetic variations across the entire genome to identify genetic markers associated with specific traits or diseases.

Polygenic disorders are genetic disorders caused by variations in multiple genes, each contributing to the overall risk of developing the disorder.

Karyotyping is a genetic testing technique that analyzes the number and structure of chromosomes to identify chromosomal abnormalities, such as deletions, duplications, or translocations.

Epigenetics studies the heritable changes in gene expression that do not involve changes in the DNA sequence itself, but rather modifications that affect gene activity.

Lactose Intolerance is a genetic disorder caused by a deficiency of the enzyme lactase, resulting in the inability to digest lactose, a sugar found in milk and dairy products.

Pharmacogenomics studies the genetic variations that influence an individual's response to drugs, including their effectiveness and side effects.

Phenylketonuria (PKU) is a genetic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase, leading to the accumulation of toxic substances in the body if untreated.

Nutrigenomics studies the interactions between genetic variations and nutrition, examining how genetic factors influence an individual's response to different nutrients and dietary components.

Cystic Fibrosis is a genetic disorder caused by a mutation in the CFTR gene, leading to the production of thick, sticky mucus in the lungs and other organs, causing respiratory and digestive problems.