Discovering the future of women’s health care

In This Issue

Endometriosis Research Study Newsletter  |  Summer 2014

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Since 1986 scientists and medical professionals have gathered at the World Congress on Endometriosis (WCE) to share knowledge. In May 2014 the 12th WCE was in São Paulo, Brazil.  Juneau Biosciences’ Chief Scientific Officer, Dr. Hans Albertsen, presented at the opening session. His presentation was entitled “Genomic rearrangements (copy number variants) may play a role in the pathogenesis of endometriosis.”

Dr. Albertsen and Juneau’s research team discovered an unusual genetic pattern, or “marker,” associated with endometriosis, particularly severe endometriosis. This finding has two important implications. The marker appears to be useful in diagnosing endometriosis. Further, the strength of the association makes it likely that this area of the genome contains important clues to a specific cause of endometriosis.

Most readers are aware of Juneau Biosciences’ work to develop a test for endometriosis based on genetic markers. We compare genetic information in women with and without endometriosis to find signals associated with its presence or absence.  Using that information, Juneau has developed a test that will be able to inform a woman if she has a high or low probability of having endometriosis.

The keynote address at the WCE’s opening ceremony was an interesting talk given by Dr. Fiona Godlee, editor in chief of the BMJ (British Medical Journal). She discussed “Over-Diagnosis, Over-Treatment, and Responsible Management of Finite Healthcare Resources.” The benefit to patients of earlier diagnosis and better treatment options for all diseases cannot be overemphasized. Having diabetes no longer means you will lose your sight or your leg, because early diagnosis is simple, and better treatments are constantly emerging. A genetic tendency toward cancer is no longer so dangerous. Many cancers can be prevented or cured early if you are tested and know about the risk. But the medical profession has to take care not to test and treat people who don’t need it.

Genetic research offers a special way to target the proper treatment to the individuals who need it. In the case of endometriosis, pinpointing genes and genetic mechanisms will allow us to move beyond a simple yes/no diagnosis and a “shotgun” treatment approach. Eventually we will find genetic factors specific to both endometriosis types and who is at risk. An individual woman can know whether her endometriosis is likely to stay superficial or grow deep. She will know her own likelihood of developing pain or infertility from endometriosis. And it will be clear whether her type of endometriosis responds better to “treatment A” or “treatment B.”

Personalized medicine is the future, and genetics is a key part of that future.  The ability to understand specific effects of endometriosis in different women will avoid costs and dangers associated with delayed diagnosis, over-diagnosis, and over-treatment. Dr. Albertsen concluded his presentation with the wise observation, “The hope is that genetics will not lead to over-diagnosis, but to a more refined diagnosis.”



Juneau Biosciences presents at the World Congress on Endometriosis