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What do we mean by inherited disease?

The terns “genetic” or “inherited’ can be confusing because they are used in different ways.  In everyday language, conditions like diabetes, hypertension, or thyroid disease are often called “genetic” because they run in families. Indeed, there are many genetic factors, most of them unknown, that contribute to common diseases, like diabetes, along with lifestyle factors such as exercise and diet. 

 

However, in medicine, “genetic” or “inherited” mean conditions that are caused primarily by changes to DNA. it might mean that a change in a single gene is enough to cause the disease. Or, a change in a person’s chromosomes, or the packages of DNA inside cells, can cause problems with development.

A few examples of inherited (single gene) diseases:

  • Cystic fibrosis

  • Huntington disease

  • Marfan syndrome

  • Sickle cell anemia

  • Tay Sachs disease

  • Charcot-Marie-Tooth disease

  • Fragile X

  • Neurofibromatosis

  • Thalassemia

  • Muscular dystrophy

  • BRCA1 or BRCA2

A few examples of chromosomal conditions:

  • Down syndrome

  • Trisomy 18, 13

  • Klinefelter syndrome

  • 47, XYY

  • Turner syndrome (45,X)

  • Translocations

We are most interested in knowing about genetic or inherited conditions that are caused primarily by a person's DNA. If you aren't sure, feel welcome to tell us and we will have our genetics experts review the information. If you run out of room, there is a space at the end of your questionnaire to provide us with any additional information. Please include:

  • the name of the condition

  • who in the family has it and how they are related to you

  • how old they were when they first had symptoms or were diagnosed

  • their current age or the age when they passed away if they are no longer living

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