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Studying genetic diseases: Finding out about the person

One of the first steps in carrying out a study about any disease is to find out as much as possible about the patients.

The sum of a person's physical and physiological characteristics is called their phenotype.

Get video: Investigating genetic diseases: Find out about the patients first

Details about personal history and lifestyle

The details about personal history and lifestyle, including such things as exercise habits and stress levels might also be important. The researchers can use a detailed questionnaire to get this information.

The responses to the questionnaires will be loaded into a computer. The researchers will then look for patterns – things that are either more or less common in people who have a particular disease (for example inflammatory bowel disease), compared with those who don't. This means that the questionnaires also have to be filled out by people who do not have the disease. They are called the 'control' group.

Details about family history

Often diseases run in families. This suggests that there might be a genetic link to the disease. The researchers will ask people in the study about their family history, and whether or not family members also have the disease.

Details about diet

With a disease like inflammatory bowel disease (IBD), the food a patient eats seems to have a big effect on the symptoms of the disease. Researchers are therefore very interested in finding out more about the diets of people with IBD. Again, a questionnaire can be used to find out this information.

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