Discovering the future of women’s health care

Endometriosis Research Study Newsletter  |    Fall 2014

Juneau Biosciences, LLC  |  2749 E. Parleys Way, Suite 210  |  Salt Lake City, UT  84109                                                                  

In This Issue

Dear Diary,

Juneau Biosciences just published a paper, “Endometriosis is Associated with Rare Copy Number Variants.” So what are copy number variants, why are they important, and if endometriosis is so common, why are we looking for rare ones?

Juneau’s research looks to see what genetic marker patterns are common in women with endometriosis and absent in women without endometriosis.

First of all, what is a “genetic marker”? A marker is a place on the human genome that basically tells you where you are, kind of like a mile marker on an interstate highway. They are not usually genes themselves, but mark the location of important genes. Markers may be single nucleotide polymorphisms (SNPs), copy number variants (CNVs), deletions, insertions, and other stuff. We know a lot about some markers, such as blood type, but know only the position of others. Continued research will bring us a better understanding of markers and their nearby genes.

SNPs have been the mainstay of genetic association studies. A SNP is a single place in the genome where at least 1% of the population differs from most other people. One percent is a LOT of people, and the original change (mutation) must have happened a long time ago. In fact, SNPs are mutations that happened more than 10,000 years ago.

CNVs are much larger segments of DNA, thousands to millions of base pairs, which have been rearranged, duplicated, or deleted. You can have several or just a few copies and be perfectly normal. About 12-13% of the human genome is prone to copy number variation. This is a lot of genetic material! On average, there are more than a thousand CNVs in a person’s genome. This can be compared to a fingerprint, as each person has her own distinct pattern.

CNVs are easier to find even when they are “rare,” that is, present in less than 1% of people. “Rare” is kind of the same thing as “new” in genetics, meaning a change that happened less than 10,000 years ago. (Hard to imagine anything 9,999 years old as being new.    ) This gets us back to the original question, why look for something rare in a disease that is so common?

Hunting down rare variants is particularly important in conditions like endometriosis, which have “negative selective pressure”; disease-related genes can fail to be passed on due to infertility. Therefore, there must be new mutations that promote endometriosis.

Juneau discovered CNVs that were associated with endometriosis, and strongly associated with severe endometriosis. Through some fancy (and very sophisticated) genetic analysis, it was determined that most individuals shared a mutation that arose five or more generations ago. Juneau's publication of these findings ushers in a new era of study about the causes and classification of endometriosis, since it is the first report of CNVs associated with endometriosis.

The paper is free online at The description of all the steps taken to make sure the results were “signal” instead of “noise” is pretty cool. 

What is even cooler is all the generous women who have taken time to participate in this study and make these findings possible!  Yay, Feminine Force! Lady Leverage! Petticoat Power! And EndoSister Enthusiasm!

Until next time-

    GENE-ius Diaries