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• Genetics is the scientific study of genes and heredity
• Genes are responsible for passing on certain qualities or traits from parents to offspring through changes in DNA sequence
• Gregor Johann Mendel was a botanist, teacher, and Augustinian prelate known as the Father of Modern Genetics
• Mendel laid the mathematical foundation of genetics, known as Mendelism
• Punnett Square is a graphical representation of possible genotypes of offspring from a cross or breeding event
• Mendel experimented on garden pea hybrids at a monastery
• Genotype refers to the genetic makeup of an organism, including its complete set of genes
• Genotype can refer to the alleles, or variant forms of a gene, carried by an organism
• Phenotype refers to the observable physical properties of an organism, including appearance, development, and behavior
• Genes are short sequences of DNA encoding for a certain trait and determine traits in an individual
• Alleles are different variants of a gene responsible for diverse features of a given trait
• DNA (Deoxyribonucleic Acid) is the information molecule with a phosphate backbone and bases like adenine, cytosine, guanine, and thymine
• Chromosomes are threadlike structures made of protein and a single molecule of DNA that carry genomic information from cell to cell
• RNA (Ribonucleic Acid) plays essential roles in coding, decoding, regulation, and gene expression
• Genetic disorders include certain types of birth defects, chronic diseases, developmental problems, and sensory deficits that are inherited from one or both parents
• A genetic disorder happens when a gene/s has a problem with its code, causing a health problem
• Genetic disorders can be categorized as chromosomal, complex (multifactorial), or single-gene (monogenic)
• Chromosomal disorders affect the structures that hold genes/DNA within each cell (chromosomes), where people may be missing or have duplicated chromosome material
• Complex (multifactorial) disorders stem from a combination of gene mutations and other factors like chemical exposure, diet, medications, tobacco, or alcohol use
• Single-gene (monogenic) conditions occur from a single gene mutation
• Common genetic disorders include:
• Trisomy 21 (Down Syndrome)
• Trisomy 18 (Edwards Syndrome)
• Trisomy 13 (Patau Syndrome)
• Fragile X Syndrome
• Down Syndrome (Trisomy 21) is a genetic condition where a person is born with an extra copy of chromosome 21, affecting brain and body development
• Patau Syndrome (Trisomy 13) is a genetic disorder where a person has 3 copies of genetic material from chromosome 13
• Edwards Syndrome (Trisomy 18) results in the baby having three copies of chromosome 18, causing abnormal organ development
• Fragile X Syndrome, also known as Martin-Bell syndrome, causes developmental delays, intellectual disabilities, physical abnormalities, and other issues
• Multifactorial disorders include late-onset Alzheimer’s disease, cancer, coronary artery disease, diabetes, and spina bifida
• Alzheimer's Disease is a progressive condition affecting memory, thought, and language control
• Cancer occurs when normal cells become cancerous, forming tumors due to gene mutations
• Coronary Artery Disease is caused by plaque buildup in arteries supplying blood to the heart, leading to atherosclerosis
• Diabetes affects how the body turns food into energy, with types including Type 1, Type 2, Pre-diabetes, and Gestational Diabetes
• Spina Bifida is caused by incomplete spine development during the first month of pregnancy, with varying degrees of severity
• Monogenic disorders include Cystic Fibrosis, Congenital Deafness, and Sickle Cell Disease
• Cystic Fibrosis causes sticky mucus buildup in organs, leading to breathing difficulties, and is inherited from both parents
• Congenital Deafness is hearing loss present at birth due to genetic causes or other influences affecting the fetus
• Sickle Cell Disease affects red blood cells, impacting health due to abnormal hemoglobin
• Symptoms of genetic disorders vary and can include behavioral changes, breathing problems, cognitive deficits, developmental delays, eating and digestive issues, limb or facial anomalies, movement disorders, neurological issues, vision or hearing loss