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

Max Planck Institute for Evolutionary Anthropology—An international team of researchers from Germany, Georgia, Armenia, and Norway has analyzed ancient DNA from 230 individuals across 50 archaeological sites from Georgia and Armenia. Within the framework of the Max Planck-Harvard Research Center for the Archaeoscience of the Ancient Mediterranean, co-directed by Johannes Krause, Director at the Max Planck Institute for Evolutionary Anthropology in Leipzig, and Philipp Stockhammer, Professor at Ludwig Maximilians University of Munich, this study reconstructs the genetic interactions of populations in the Southern Caucasus over time and down to the level of individual mobility.

Spanning from the Early Bronze Age (circa 3500 BCE) to after the Migration Period (circa 500 CE), the research shows that people in the Southern Caucasus retained a mostly constant ancestry profile. "The persistence of a deeply rooted local gene pool through several shifts in material culture is exceptional", says population geneticist Harald Ringbauer, whose research team at the Max Planck Institute for Evolutionary Anthropology led this study, "This stands out compared to other regions across Western Eurasia, where many changes were linked to substantial movement of people."

While there was overall genetic continuity, the research also found evidence of migration from neighboring regions. During the later phases of the Bronze Age, in particular, a portion of the area's genetic makeup traces back to people from Anatolia and the Eurasian steppe pastoralists—reflecting cultural exchange, technological innovation, burial practices, and the expansion of economic systems, such as mobile pastoralism. Following this period, the population size in the area increased, and genetic signatures of mixing were often more transient or confined to singular mobile individuals.

One of the study's most striking findings concerns early Medieval individuals from the Iberian Kingdom, located in present-day eastern Georgia, who had intentionally deformed skulls. This cultural practice was long thought to be tied to Central Eurasian Steppe populations. "We identified numerous individuals with deformed skulls who were genetically Central Asian, and we even found direct genealogical links to the Avars and Huns " says lead author and geneticist Eirini Skourtanioti from the Max Planck Institute for Evolutionary Anthropology and Ludwig Maximilians University Munich. "However, our analyses revealed that most of these individuals were locals, not migrants. This is a compelling example of the cultural adoption of a practice that was likely disseminated in the area by nomadic groups."

Liana Bitadze, head of the Anthropological Research Laboratory at Tbilisi State University in Georgia and a co-author of the study, corroborates the significance of this finding: "Previously, we addressed this question through comparative morphometric analyses. Now, ancient DNA analysis has created a completely new line of evidence, helping us to reach more definitive answers."

The study also highlights how urban centers and early Christian sites in eastern Georgia became melting pots of people beginning in Late Antiquity. This further emphasizes the long-standing role of the Caucasus as a dynamic cultural and genetic frontier.

"Historical sources mention how the Caucasus Mountains served both as a barrier and a corridor for migration during Late Antiquity. Our study shows that increased individual mobility was a key feature of the emerging urban centers in the region", says Xiaowen Jia, co-lead author and PhD researcher at Ludwig Maximilians University Munich.

This research sets a new standard for understanding the population histories of regions that have long been overlooked by archaeogenetics.

https://popular-archaeology.com/article/population-history-of-the-southe rn-caucasus/

Max Planck Institute for Evolutionary Anthropology—An international team of researchers from Germany, Georgia, Armenia, and Norway has analyzed ancient DNA from 230 individuals across 50 archaeological sites from Georgia and Armenia. Within the framework of the Max Planck-Harvard Research Center for the Archaeoscience of the Ancient Mediterranean, co-directed by Johannes Krause, Director at the Max Planck Institute for Evolutionary Anthropology in Leipzig, and Philipp Stockhammer, Professor at Ludwig Maximilians University of Munich, this study reconstructs the genetic interactions of populations in the Southern Caucasus over time and down to the level of individual mobility.

Spanning from the Early Bronze Age (circa 3500 BCE) to after the Migration Period (circa 500 CE), the research shows that people in the Southern Caucasus retained a mostly constant ancestry profile. "The persistence of a deeply rooted local gene pool through several shifts in material culture is exceptional", says population geneticist Harald Ringbauer, whose research team at the Max Planck Institute for Evolutionary Anthropology led this study, "This stands out compared to other regions across Western Eurasia, where many changes were linked to substantial movement of people."

While there was overall genetic continuity, the research also found evidence of migration from neighboring regions. During the later phases of the Bronze Age, in particular, a portion of the area's genetic makeup traces back to people from Anatolia and the Eurasian steppe pastoralists—reflecting cultural exchange, technological innovation, burial practices, and the expansion of economic systems, such as mobile pastoralism. Following this period, the population size in the area increased, and genetic signatures of mixing were often more transient or confined to singular mobile individuals.

One of the study's most striking findings concerns early Medieval individuals from the Iberian Kingdom, located in present-day eastern Georgia, who had intentionally deformed skulls. This cultural practice was long thought to be tied to Central Eurasian Steppe populations. "We identified numerous individuals with deformed skulls who were genetically Central Asian, and we even found direct genealogical links to the Avars and Huns " says lead author and geneticist Eirini Skourtanioti from the Max Planck Institute for Evolutionary Anthropology and Ludwig Maximilians University Munich. "However, our analyses revealed that most of these individuals were locals, not migrants. This is a compelling example of the cultural adoption of a practice that was likely disseminated in the area by nomadic groups."

Liana Bitadze, head of the Anthropological Research Laboratory at Tbilisi State University in Georgia and a co-author of the study, corroborates the significance of this finding: "Previously, we addressed this question through comparative morphometric analyses. Now, ancient DNA analysis has created a completely new line of evidence, helping us to reach more definitive answers."

The study also highlights how urban centers and early Christian sites in eastern Georgia became melting pots of people beginning in Late Antiquity. This further emphasizes the long-standing role of the Caucasus as a dynamic cultural and genetic frontier.

"Historical sources mention how the Caucasus Mountains served both as a barrier and a corridor for migration during Late Antiquity. Our study shows that increased individual mobility was a key feature of the emerging urban centers in the region", says Xiaowen Jia, co-lead author and PhD researcher at Ludwig Maximilians University Munich.

This research sets a new standard for understanding the population histories of regions that have long been overlooked by archaeogenetics.

https://popular-archaeology.com/article/population-history-of-the-southe rn-caucasus/

Max Planck Institute for Evolutionary Anthropology—An international team of researchers from Germany, Georgia, Armenia, and Norway has analyzed ancient DNA from 230 individuals across 50 archaeological sites from Georgia and Armenia. Within the framework of the Max Planck-Harvard Research Center for the Archaeoscience of the Ancient Mediterranean, co-directed by Johannes Krause, Director at the Max Planck Institute for Evolutionary Anthropology in Leipzig, and Philipp Stockhammer, Professor at Ludwig Maximilians University of Munich, this study reconstructs the genetic interactions of populations in the Southern Caucasus over time and down to the level of individual mobility.

Spanning from the Early Bronze Age (circa 3500 BCE) to after the Migration Period (circa 500 CE), the research shows that people in the Southern Caucasus retained a mostly constant ancestry profile. "The persistence of a deeply rooted local gene pool through several shifts in material culture is exceptional", says population geneticist Harald Ringbauer, whose research team at the Max Planck Institute for Evolutionary Anthropology led this study, "This stands out compared to other regions across Western Eurasia, where many changes were linked to substantial movement of people."

While there was overall genetic continuity, the research also found evidence of migration from neighboring regions. During the later phases of the Bronze Age, in particular, a portion of the area's genetic makeup traces back to people from Anatolia and the Eurasian steppe pastoralists—reflecting cultural exchange, technological innovation, burial practices, and the expansion of economic systems, such as mobile pastoralism. Following this period, the population size in the area increased, and genetic signatures of mixing were often more transient or confined to singular mobile individuals.

One of the study's most striking findings concerns early Medieval individuals from the Iberian Kingdom, located in present-day eastern Georgia, who had intentionally deformed skulls. This cultural practice was long thought to be tied to Central Eurasian Steppe populations. "We identified numerous individuals with deformed skulls who were genetically Central Asian, and we even found direct genealogical links to the Avars and Huns " says lead author and geneticist Eirini Skourtanioti from the Max Planck Institute for Evolutionary Anthropology and Ludwig Maximilians University Munich. "However, our analyses revealed that most of these individuals were locals, not migrants. This is a compelling example of the cultural adoption of a practice that was likely disseminated in the area by nomadic groups."

Liana Bitadze, head of the Anthropological Research Laboratory at Tbilisi State University in Georgia and a co-author of the study, corroborates the significance of this finding: "Previously, we addressed this question through comparative morphometric analyses. Now, ancient DNA analysis has created a completely new line of evidence, helping us to reach more definitive answers."

The study also highlights how urban centers and early Christian sites in eastern Georgia became melting pots of people beginning in Late Antiquity. This further emphasizes the long-standing role of the Caucasus as a dynamic cultural and genetic frontier.

"Historical sources mention how the Caucasus Mountains served both as a barrier and a corridor for migration during Late Antiquity. Our study shows that increased individual mobility was a key feature of the emerging urban centers in the region", says Xiaowen Jia, co-lead author and PhD researcher at Ludwig Maximilians University Munich.

This research sets a new standard for understanding the population histories of regions that have long been overlooked by archaeogenetics.

https://popular-archaeology.com/article/population-history-of-the-southe rn-caucasus/

Max Planck Institute for Evolutionary Anthropology—An international team of researchers from Germany, Georgia, Armenia, and Norway has analyzed ancient DNA from 230 individuals across 50 archaeological sites from Georgia and Armenia. Within the framework of the Max Planck-Harvard Research Center for the Archaeoscience of the Ancient Mediterranean, co-directed by Johannes Krause, Director at the Max Planck Institute for Evolutionary Anthropology in Leipzig, and Philipp Stockhammer, Professor at Ludwig Maximilians University of Munich, this study reconstructs the genetic interactions of populations in the Southern Caucasus over time and down to the level of individual mobility.

Spanning from the Early Bronze Age (circa 3500 BCE) to after the Migration Period (circa 500 CE), the research shows that people in the Southern Caucasus retained a mostly constant ancestry profile. "The persistence of a deeply rooted local gene pool through several shifts in material culture is exceptional", says population geneticist Harald Ringbauer, whose research team at the Max Planck Institute for Evolutionary Anthropology led this study, "This stands out compared to other regions across Western Eurasia, where many changes were linked to substantial movement of people."

While there was overall genetic continuity, the research also found evidence of migration from neighboring regions. During the later phases of the Bronze Age, in particular, a portion of the area's genetic makeup traces back to people from Anatolia and the Eurasian steppe pastoralists—reflecting cultural exchange, technological innovation, burial practices, and the expansion of economic systems, such as mobile pastoralism. Following this period, the population size in the area increased, and genetic signatures of mixing were often more transient or confined to singular mobile individuals.

One of the study's most striking findings concerns early Medieval individuals from the Iberian Kingdom, located in present-day eastern Georgia, who had intentionally deformed skulls. This cultural practice was long thought to be tied to Central Eurasian Steppe populations. "We identified numerous individuals with deformed skulls who were genetically Central Asian, and we even found direct genealogical links to the Avars and Huns " says lead author and geneticist Eirini Skourtanioti from the Max Planck Institute for Evolutionary Anthropology and Ludwig Maximilians University Munich. "However, our analyses revealed that most of these individuals were locals, not migrants. This is a compelling example of the cultural adoption of a practice that was likely disseminated in the area by nomadic groups."

Liana Bitadze, head of the Anthropological Research Laboratory at Tbilisi State University in Georgia and a co-author of the study, corroborates the significance of this finding: "Previously, we addressed this question through comparative morphometric analyses. Now, ancient DNA analysis has created a completely new line of evidence, helping us to reach more definitive answers."

The study also highlights how urban centers and early Christian sites in eastern Georgia became melting pots of people beginning in Late Antiquity. This further emphasizes the long-standing role of the Caucasus as a dynamic cultural and genetic frontier.

"Historical sources mention how the Caucasus Mountains served both as a barrier and a corridor for migration during Late Antiquity. Our study shows that increased individual mobility was a key feature of the emerging urban centers in the region", says Xiaowen Jia, co-lead author and PhD researcher at Ludwig Maximilians University Munich.

This research sets a new standard for understanding the population histories of regions that have long been overlooked by archaeogenetics.

https://popular-archaeology.com/article/population-history-of-the-southe rn-caucasus/

Max Planck Institute for Evolutionary Anthropology—An international team of researchers from Germany, Georgia, Armenia, and Norway has analyzed ancient DNA from 230 individuals across 50 archaeological sites from Georgia and Armenia. Within the framework of the Max Planck-Harvard Research Center for the Archaeoscience of the Ancient Mediterranean, co-directed by Johannes Krause, Director at the Max Planck Institute for Evolutionary Anthropology in Leipzig, and Philipp Stockhammer, Professor at Ludwig Maximilians University of Munich, this study reconstructs the genetic interactions of populations in the Southern Caucasus over time and down to the level of individual mobility.

Spanning from the Early Bronze Age (circa 3500 BCE) to after the Migration Period (circa 500 CE), the research shows that people in the Southern Caucasus retained a mostly constant ancestry profile. "The persistence of a deeply rooted local gene pool through several shifts in material culture is exceptional", says population geneticist Harald Ringbauer, whose research team at the Max Planck Institute for Evolutionary Anthropology led this study, "This stands out compared to other regions across Western Eurasia, where many changes were linked to substantial movement of people."

While there was overall genetic continuity, the research also found evidence of migration from neighboring regions. During the later phases of the Bronze Age, in particular, a portion of the area's genetic makeup traces back to people from Anatolia and the Eurasian steppe pastoralists—reflecting cultural exchange, technological innovation, burial practices, and the expansion of economic systems, such as mobile pastoralism. Following this period, the population size in the area increased, and genetic signatures of mixing were often more transient or confined to singular mobile individuals.

One of the study's most striking findings concerns early Medieval individuals from the Iberian Kingdom, located in present-day eastern Georgia, who had intentionally deformed skulls. This cultural practice was long thought to be tied to Central Eurasian Steppe populations. "We identified numerous individuals with deformed skulls who were genetically Central Asian, and we even found direct genealogical links to the Avars and Huns " says lead author and geneticist Eirini Skourtanioti from the Max Planck Institute for Evolutionary Anthropology and Ludwig Maximilians University Munich. "However, our analyses revealed that most of these individuals were locals, not migrants. This is a compelling example of the cultural adoption of a practice that was likely disseminated in the area by nomadic groups."

Liana Bitadze, head of the Anthropological Research Laboratory at Tbilisi State University in Georgia and a co-author of the study, corroborates the significance of this finding: "Previously, we addressed this question through comparative morphometric analyses. Now, ancient DNA analysis has created a completely new line of evidence, helping us to reach more definitive answers."

The study also highlights how urban centers and early Christian sites in eastern Georgia became melting pots of people beginning in Late Antiquity. This further emphasizes the long-standing role of the Caucasus as a dynamic cultural and genetic frontier.

"Historical sources mention how the Caucasus Mountains served both as a barrier and a corridor for migration during Late Antiquity. Our study shows that increased individual mobility was a key feature of the emerging urban centers in the region", says Xiaowen Jia, co-lead author and PhD researcher at Ludwig Maximilians University Munich.

This research sets a new standard for understanding the population histories of regions that have long been overlooked by archaeogenetics.

https://popular-archaeology.com/article/population-history-of-the-southe rn-caucasus/