Genetic Conditions

Basics of Genetic Conditions

  • Genetic conditions are diseases or disorders caused by abnormalities in a person’s genome.
  • These can be due to changes in a single gene, several genes, or due to changes in the overall structure or number of chromosomes.
  • Genetic conditions can be either inherited from parents or be the result of mutations in an individual’s genome.

Causes of Genetic Conditions

  • Gene mutations can lead to the production of proteins that do not function properly or are not produced at all, resulting in a genetic condition.
  • Chromosomal disorders, where there are missing or extra chromosomes or pieces of chromosomes, can also result in genetic conditions.
  • Changes to genes or chromosomes can occur naturally during the formation of egg or sperm cells, and be passed to the offspring.

Examples of Genetic Disorders

  • Cystic Fibrosis: A condition caused by a mutation in the CFTR gene, which leads to a build-up of thick, sticky mucus in the lungs and digestive system.
  • Down’s Syndrome: A chromosomal disorder resulting from an additional chromosome 21, leading to learning disabilities and certain physical features.
  • Huntington’s disease: An inherited condition caused by a mutation on the HTT gene, affecting the brain and nervous system.

Patterns of Inheritance in Genetic Conditions

  • Some genetic conditions like cystic fibrosis and sickle cell anaemia are recessive, meaning an individual must inherit two copies of the mutated gene to be affected.
  • Some conditions like Huntington’s disease are dominant, and an individual needs only one copy of the mutated gene to have the condition.
  • The chance of inheriting a genetic condition is not influenced by the gender of the parent, unless it is a sex-linked condition, these are disorders associated with genes located on the sex chromosomes.

Diagnosis, Management, and Impact of Genetic Conditions

  • With the advent of genetic technologies, many genetic conditions can now be diagnosed before birth, or even before implantation in the case of IVF screening.
  • Some genetic conditions can be managed with treatments that improve the symptoms, but most cannot be cured.
  • Genetic conditions can have a major impact on life expectancy and quality of life, and many people affected by genetic conditions require long-term care.
  • In some cases, knowledge of a serious genetic condition can lead to ethical considerations around reproductive choices, such as whether to have children who might inherit the condition.

Role of Research in Genetic Conditions

  • Scientific research is crucial in understanding the causes of genetic conditions, how they affect the body, and for developing new treatments.
  • The use of genetic technologies in the diagnosis and potential treatment of genetic conditions is a rapidly expanding field.
  • Part of this field includes gene therapy, which tries to change the genes directly, or genetic engineering, which involves adding, removing, modifying, or manipulating the genes in a living organism.