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The Value of Genomic Research

Genomic research offers exciting potential to provide the medical community the opportunity to advance the practice of medicine. There have been several recent, promising breakthroughs from this research approach.

In Texas, a group of researchers found that some individuals who had very low blood cholesterol levels actually had a mutation in a particular gene, called PCSK9, which proved to regulate blood cholesterol levels. This provided new insights into a new way to treat high blood cholesterol and led to the development of a new drug treatment that is currently in clinical trials.

Researchers in Italy discovered a groundbreaking treatment for an immunological condition known as ADA-SCID, or "the bubble boy disease". Affected children are born without effective immune systems and must live inside a protective bubble to avoid fatal infection from other people. The only treatment previously was bone marrow transplantation from matched donors. The Italian study is believed to be a first case of gene therapy "cure," or at least a long-term correction, for patients with a deadly genetic disorder. A therapeutic gene called ADA was introduced into the patient bone marrow cells in the laboratory - and then the "corrected" cells were transplanted back into the original patients. All six patients treated had no noticeable side effects, and are now living normal lives with their families without the need for further treatment.