Genetic Sequencing: an Innovative Method of Confirming your CrowdMed Diagnosis

What is Genetic Sequencing?

Imagine that your body has an instruction manual. It would be millions of pages long, delegating everything from the color of your eyes to the shape of your toenails. Now imagine that there was a single typo somewhere in those millions of pages. It is this typo, or mutation, that causes disease. Genetic sequencing is a computerized method of locating that mutation.

There are two types of genetic sequencing:

  • Whole genome sequencing analyzes all of a patients genes. It costs more but produces more information for research.
  • Exome sequencing analyzes the small portion of your genes where most mutations occur.

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What To Do After You’ve Been Diagnosed With A Rare Disease

Rare diseases, also called ‘orphan diseases’ are diseases that affect only a small number of people in the population at any one time.  In the US, a disease is classified as ‘rare’ if it affects fewer than 200,000 people in a given time period, and in Europe if it affects less than one in 2,000.  There are approximately 6,800 such diseases according to the National Institutes of Health (NIH).

Because most rare diseases can cause changes requiring major lifestyle modification (depending on the severity and prognosis), there are several steps you can take to find a solution or to help you cope better with your new situation.

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