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Genetically Inherited Diseases

Overview

Genetic disorders are illnesses caused by alterations in a person's DNA. These anomalies may arise spontaneously as a result of alterations in the DNA sequences or they may be passed down from one or both parents. As the name implies Inherited disorders are genetic illnesses passed onto their offspring via their parents' genes.

  • Genetic disorders can affect any organ system and people from any age group. 
  • Genetic disorders can affect a person's appearance, how their organs function, their metabolism, and even their susceptibility to certain diseases.

  • X-linked disorders: occur on the X chromosome
  • Autosomal dominant: only one copy of the abnormal gene is needed for the disorder to manifest
  • Autosomal recessive: requiring two copies of the abnormal gene
  • Mitochondrial disorders: affecting the energy-producing structures within cells

Genetic disorders can have a variety of causes:

  • Changes or mutations in a single gene
  • Complex interactions between numerous genes and environmental factors
  • Environmental factors such as exposure to toxins, radiation, or specific medications, can impact the occurrence of genetic disorders

Every disorder has a different set of symptoms and individual inheritance patterns. Accordingly, methods for treating these disorders may vary. 

  • Medical Assessment: includes a thorough assessment of a person's medical history, physical examination, and family history.
  • In some cases, precision genetic testing may be suggested

These tests might be performed during pregnancy, after childbirth (neonatal and paediatric testing), or during adulthood, depending on the suspected disorder and the particular circumstance.

  • Hereditary cancers
  • Hereditary cardiac conditions
  • Chromosomal abnormalities which cause birth defects, intellectual disabilities, and/or reproductive problems
  • Inherited metabolic disorders
  • Single gene disorders, such as:
    • Thalassaemia
    • Muscular dystrophy
    • Huntington's disease
    • Sickle cell disease:
  • Birth defects associated with the involvement of a genetic component
    • Neural tube defects
    • Cleft lip
    • Cleft palate
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