"A genetic disorder is a health problem caused by one or more abnormalities in the genome."
Conditions caused by mutations or abnormalities in genes, often resulting in physical or functional abnormalities or disabilities.
DNA and Genetics: Understanding the basic elements of genetics, the structure and function of DNA, and how it is passed down from generation to generation.
Gene Mutations: Mutations in genes can cause genetic disorders, such as cystic fibrosis, Huntington’s disease, and sickle cell anemia.
Chromosomes: Chromosomes are structures that contain genes and are responsible for the genetic traits of an organism. Some disorders, such as Down syndrome, are caused by changes in the number or structure of chromosomes.
Inheritance Patterns: Understanding the different ways in which genetic disorders are inherited, such as autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive.
Genetic Testing: The various types of tests used to identify genetic disorders or mutations, including carrier testing, prenatal testing, and pre-implantation genetic diagnosis (PGD).
Genetic Counseling: The importance of genetic counseling in helping families understand the risks and implications of genetic disorders, and in making informed decisions about family planning.
Genetic Therapy: The different types of genetic therapies that can be used to treat genetic disorders, including gene therapy, RNA-based therapy, and stem cell therapy.
Epigenetics: The study of how environmental factors can influence gene expression and lead to genetic disorders.
Genome Editing: The use of technologies such as CRISPR/Cas9 to modify genetic sequences and potentially cure genetic disorders.
Ethical Implications of Genetics: The ethical considerations that arise from advances in genetics, such as issues related to genetic privacy, discrimination, and eugenics.
Down Syndrome: A genetic disorder caused by the presence of all or part of a third copy of chromosome 21.
Cystic Fibrosis: A genetic disorder that affects the secretions of mucus and digestive enzymes, leading to lung and digestive problems.
Huntington's Disease: A genetic disorder that causes the progressive breakdown of nerve cells in the brain.
Hemophilia: A genetic disorder that impairs the body's ability to form blood clots, leading to prolonged bleeding.
Phenylketonuria (PKU): A genetic disorder that impairs the body's ability to break down the amino acid phenylalanine, leading to intellectual disability and other medical issues.
Tay-Sachs Disease: A genetic disorder that causes a progressive deterioration of nerve cells in the brain and spinal cord.
Sickle Cell Anemia: A genetic disorder that causes an abnormality in the oxygen-carrying protein hemoglobin, leading to sickle-shaped red blood cells and various medical issues.
Muscular Dystrophies: A group of genetic disorders that cause progressive weakness and degeneration of muscles.
"It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic)."
"It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality."
"Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause."
"The mutation responsible can occur spontaneously before embryonic development (a de novo mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance)."
"When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease."
"Around 1 in 50 people are affected by a known single-gene disorder."
"Around 1 in 263 are affected by a chromosomal disorder."
"More than 600 genetic disorders are treatable."
"Around 65% of people have some kind of health problem as a result of congenital genetic mutations."
"There are well over 6,000 known genetic disorders."
"Approximately 1 in 21 people are affected by a genetic disorder classified as 'rare' (usually defined as affecting less than 1 in 2,000 people)."
"Birth defects can also be developmental rather than hereditary."
"The opposite of a hereditary disease is an acquired disease."
"Some cancer syndromes, however, such as BRCA mutations, are hereditary genetic disorders."
"Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance."
"Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size)."
"New genetic disorders are constantly being described in medical literature."
"Genetic disorders are present before birth."
"Most genetic disorders are rare in themselves."