Date: 09/17/2014

Genetic diseases are caused by abnormalities in a person’s DNA and can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. These abnormalities can disrupt the normal function of a vital system, such as the immune system or the nervous system, or prevent normal development of organs, bones, or in the case of ichthyosis, the skin.

Simply explained, genetic testing is a means of looking at a person’s DNA to identify the specific mutation that causes their condition. Sometimes, when a patient has ichthyosis, they have features that could fit with several different diagnoses because there are overlapping symptoms between the subtypes. However, many people with ichthyosis have never actually had an official genetic test, or been given an exact diagnosis – a situation that can have serious implications on an affected person’s health and the health of their immediate family members.

Testing is important for both the individuals, families, and the scientists conducting research on specific genetic mutations. Amongst many other benefits, getting an exact diagnosis can help your doctor establish an effective treatment plan and provide a prognosis for families so they may successfully strategize for any foreseeable health complications. At the National Family conference in Indiana, FIRST sat down with geneticist Erin Loring, from Yale University, and asked her specifically why genetic testing is so important:

Find out more about the Yale Gene Discovery Project.  Or, Find a genetic counselor near you.

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