Molecular and Genetic diseases 1

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In this section, the speaker introduces basic concepts related to disease terminology, focusing on distinguishing between congenital and acquired diseases.

Understanding Disease Terminology

• The term "congenital" refers to diseases present at birth, which may or may not be inherited or genetic. It can also include conditions like infections in newborns unrelated to genetics.

• Diseases with genetic bases may manifest later in life due to environmental factors or have long-term effects like copper disorders or Alzheimer's disease. Genetic diseases do not always imply an external cause.

• Genetic diseases are often hereditary but not exclusively. Somatic mutations can occur that do not pass down through generations, such as in cancer cases where the mutation affects somatic cells rather than germ cells.

Genetic Basis of Diseases

This part delves into the relationship between genetics and disease nomenclature, highlighting molecular diseases and idiopathic conditions.

Nomenclature and Molecular Diseases

• The term "molecular disease" originated in 1949 when a link was made between sickle cell anemia and a specific hemoglobin molecule alteration. Molecular diseases involve known molecular impacts on proteins' structure or synthesis.

• Idiopathic diseases lack a known cause, while iatrogenic diseases result from medical interventions like drug treatments. Each category of disease nomenclature serves distinct purposes and should not be confused.

Anticipating Diseases through Genetics

This segment explores the possibility of predicting diseases based on genetic alterations and family history.

Predicting Diseases

• Anticipating a disease from a genetic alteration is challenging but possible with evidence like familial aggregation of certain illnesses or identifying significant gene alterations within families.