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Big Data Begins to Crack the Case of Endometriosis
Records from millions of patients at University of
California health centers found correlations between
endometriosis, one of the most common diseases in
women, and a bounty of other diseases.
By Levi Gadye
Scientists at UC San Francisco have found that
endometriosis — a painful chronic disease that often
goes undiagnosed yet is estimated to affect as many as
200 million women worldwide — frequently occurs
alongside conditions like cancer, Crohn's disease, and
migraine.
The research could improve diagnosis and, ultimately,
treatments for endometriosis, preventing women from
having to go on long diagnostic journeys in which they
are told that nothing is wrong with them.
The study, which appeared in Cell Reports Medicine on
July 31, used computational methods developed at
UCSF to analyze anonymized patient records collected at
the University of California's six health centers.
"We now have both the tools and the data to make a
difference for the huge population that suffers from
endometriosis," said Marina Sirota, PhD, the interim
director of the UCSF Bakar Computational Health
Sciences Institute (BCHSI), professor of pediatrics, and
senior author of the paper. "We hope this can spur a sea
change in how we approach this disorder."
"The impact on patients' lives is huge"
Endometriosis, often called 'endo,' occurs when the
endometrium, the blood-rich tissue that grows in the
uterus before being expelled each month during
menstruation, spreads to other nearby organs. It causes
chronic pain and infertility. It is estimated that nearly 10%
of women worldwide suffer from it.
"Endo is extremely debilitating," said Linda Giudice, MD,
PhD, MSc, a physician-scientist in the Department of
Obstetrics, Gynecology and Reproductive Sciences at
UCSF and co-author of the paper. "The impact on patients' lives is huge, from their interpersonal
relationships to being able to hold a job, have a family,
and maintain psychological wellbeing."
The gold standard to diagnose endometriosis is surgery
to find endometrial tissue outside of the uterus, and it is
mainly treated with hormones to suppress the menstrual
cycle, or surgery to remove the excess tissue.
But not everyone responds to hormonal therapy, which
can have debilitating side effects. Even after surgery, the
condition can flare up. Removal of the uterus is a
last-ditch measure that is usually reserved for older
women; but some women continue to experience pain
even after a hysterectomy.
Giudice partnered with Sirota to leverage the UC health
system's anonymized patient data against endo, which
can vary dramatically across patients. Both Giudice and
Sirota are principal investigators at the UCSF-Stanford
Endometriosis Center for Discovery, Innovation, Training
and Community Engagement (ENACT).
"This data is messy; it was not collected for research
purposes but for the real, human purpose of helping
women who need care," Sirota said. "We had the rare
chance to rigorously assess how endometriosis presents
across UCSF's patient population and then ask whether
these observations held true with patients seen at the
other UC health centers."
Data connects the dots for understanding endometriosis
Using algorithms developed for the task, Umair Khan, a
bioinformatics graduate student in Sirota's lab and first
author of the paper, hunted for connections linking
endometriosis with the rest of each patient's health
history.
He compared endo patients with patients who did not
have it, and categorized the patients with endo into
groups based on shared health histories. He mapped his
findings from the UCSF data against the rest of the UC's
health data to see if they held up across California.
"We found over 600 correlations between endometriosis
and other conditions," Khan said. "These ranged from
what we already knew or suspected, like infertility,
autoimmune disease, and acid-reflux, to the unexpected,
like certain cancers, asthma, and eye-related diseases."
Some patients had migraines, bolstering previous studies
suggesting that migraine drugs might help treat
endometriosis.
"In the past, studies like this would have been nearly
impossible," said Tomiko Oskotsky, MD, an investigator
at ENACT, associate professor in UCSF BCHSI, and
co-author of the paper. "It was only 12 years ago that
de-identified electronic health records became available
at this scale."
The study supports the growing understanding of
endometriosis as a "multi-system" disorder — a disease
arising from dysfunction throughout the body.
"This is the kind of data we need to move the needle,
which hasn't moved in decades," Giudice said. "We're finally getting closer to faster diagnosis and, eventually,
we hope, tailored treatment for the millions of women
who suffer from endometriosis."
https://www.ucsf.edu/news/2025/07/430471/big-data-begins-crack-case
-endometriosis
In the excerpt "This data is messy; it was not collected for
research purposes but for the real, human purpose of
helping women who need care", what does the pronoun
"it" refer to?
