DNA Sequencing To Identify Genetic Flaws Responsible For Rare Diseases

Posted: March 6, 2012 at 7:42 pm

Editor's Choice Main Category: Genetics Article Date: 06 Mar 2012 - 9:00 PST

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At the university's Genomics and Pathology Services (GPS), the researchers will sequence the patient's DNA at no cost to the advocacy groups or to patients.

Jimmy Lin, Ph.D., research instructor in pathology and immunology, explained:

Rare genetic diseases range from Neimann-Pick, a metabolic disorder which can occur in infancy, to Huntington's disease, a neurodegenrative disorder diagnosed in adulthood.

DNA sequencing is currently faster, cheaper and more accurate, as a result of advances in technology in recent years. For individuals suffering with rare diseases, researchers are now able to use DNA sequencing in order to identify the genetic flaw or flaws most likely responsible for their disease.

It is believed that several rare diseases are caused by genetic mutations in the small part of the DNA that codes for proteins, collectively known as the exome. The researchers will sequence this part of the DNA.

In early 2011, the genetic causes for 39 rare diseases were identified using exome sequencing, and according to scientists, this is just the start.

Karen Seibert, Ph.D., director of GPS and research professor of pathology and immunology, said:

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DNA Sequencing To Identify Genetic Flaws Responsible For Rare Diseases

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