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Endometriosis Research Study Newsletter  |  Spring 2014

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   Juneau Biosciences Gives Four Presentations

Juneau Biosciences Gives Four Presentations at the 66th Annual Meeting of the Society for Reproductive Investigation (SRI).

Juneau Biosciences delivered four scientific presentations at the 66th Annual Meeting of the Society for Reproductive Investigation (SRI), which is being held from Tuesday, March 12th to Saturday, March, 16th in Paris, France. Dr. Ward, Juneau’s Founder and CEO, presented “Protein-Truncating Mutations Underlying Endometriosis.” Protein truncating variants (PTVs) are gene mutations which usually cause a complete loss of function of the encoded protein. Finding PTVs associated with a disease can efficiently uncover novel pathophysiologic factors and important therapeutic targets. Dr. Ward reported on findings from the successful genome-wide search for PTVs associated with endometriosis conducted by Juneau. These mutations have been incorporated in the ARTguide™ test currently being used for infertility patients at beta launch sites in the United States.

Dr. Ward presented a second paper describing mutations in the METTL11B gene found in familial endometriosis. This presentation highlights how high-risk families with multiple generations of women affected by endometriosis can be studied to discover rare mutations that can play a large role in determining whether a woman descendant develops endometriosis. This genetic sleuthing is made easier with the use of the GenDB database, which allows researchers to track relationships between 32 million ancestors and the present-day population of the Intermountain West. This database was used to discover the largest endometriosis family in the world, with hundreds of women with a confirmed diagnosis who are all descendants of a man born in England in 1608. This remarkable family spans 19 generations, and hundreds of thousands of women around the globe may carry endometriosis-promoting gene mutations transmitted in this family.

Dr. Hans Albertsen, Juneau’s Chief Scientific Officer, presented the third paper entitled “Avoiding False Positive Results through Ancestry Filtering.” His presentation addressed the importance of precisely considering the ancestry of research subjects to avoid false positive conclusions when conducting genetic research studies. He describes the care used to develop the ARTguide™ test, which includes over 200 DNA-based markers to determine the proper ancestral reference group when interpreting results.

On Saturday, March 16, Dr. Ward presented a paper entitled “The Genetic Architecture of Endometriosis.” This paper will summarize over a decade of discovery work that led to a detailed understanding of the genetic factors contributing to endometriosis.

SRI is the leading international research organization in the areas of gynecology and reproductive health. The organization seeks to advance reproductive and women’s health care through outstanding basic, translational, and clinical science and by training and mentoring future generations of investigators.