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Endometriosis rooted in genetics, say researchers
Findings could open up avenues for designing new medical treatments targeting subtypes of endometriosis, say scientists

An international team of researchers have published the largest study to date on the genetic basis of endometriosis, suggesting genetic links exist between endometriosis and conditions such as migraine and back pain.
The study, published in Nature Genetics, was conducted by the International Endometriosis Genomics Consortium (IEGC), led by the University of Oxford in collaboration with 25 teams across the world.
It studied DNA from 60,600 women diagnosed with endometriosis and 701,900 without the condition, revealing evidence of a shared genetic basis for endometriosis and other types of pain seemingly unrelated to endometriosis, including migraine, back pain and multi-site pain.
The results, scientists believe, could open up avenues for designing new medical treatments targeting subtypes of endometriosis, or even the repurposing of existing treatments for endometriosis.
Endometriosis, an inflammatory condition affecting 190 million women globally, can cause constant and intense pelvic pain, painful periods, painful bowel movements, excessive bleeding and, in some cases, infertility.
It is known that endometriosis can run in families, and therefore that genetic factors play a role in how it develops in some women but not in others.
The cause of the condition is unknown. Several theories have been suggested, including genetics and immune system problems.
Comparing the DNA code in women with and without the disease could, however, give scientists clues to the biological processes that are the basis for onset and progression.
The study conducted by IEGC identified 42 genes that were associated significantly with whether an individual had endometriosis.
By linking these variants to the profiles of molecules in endometrium and blood, researchers identified a range of genes that were differently expressed in these tissues and therefore had a likely role in disease development.
What they noted in particular is that many of the implicated genes play a role in pain perception and maintenance.
They found that there was a shared genetic basis for endometriosis and a range of other chronic pain types, such migraine, back pain, and multi-site pain, which could be related to so-called “sensitisation” of the central nervous system, which makes individuals suffering from chronic pain more prone to other types of pain.
Dr Nilufer Rahmioglu, senior research scientist at the Wellcome Centre for Human Genetics, University of Oxford, and first author of the study, said: “Using different datasets of women with and without endometriosis, some of which had unprecedented detailed data on surgical findings and pain experience collected using standardised criteria, allowed us to generate a treasure trove of new information about genetically driven endometriosis subtypes and pain experience.”
Professor Krina Zondervan, co-director of the Endometriosis CaRe Centre, and head of the Nuffield Department of Women’s & Reproductive Health, University of Oxford, senior author on the paper, added: “This study has provided a wealth of new knowledge on the genetics underlying endometriosis, which will help the research community in their efforts to come up with new treatments and possibly new ways of diagnosing the disease benefiting millions of women worldwide.”
Discussing the study, Stacey Missmer, professor of obstetrics, gynaecology and reproductive biology at the Michigan State University College of Human Medicine and US leader of IEGC for the second phase of the study, said: “We still have a lot more work to do to discover what explains the genetic heritability of endometriosis.
“But these study results are a leap forward in identifying genes associated with endometriosis and, more specifically, their function in the human body and the possible biology related to endometriosis risk.”
News
Congress urged to invest over $20bn to close women’s health gap

Congress is being urged to invest US$20bn over 10 years to close the women’s health gap.
The American College of Obstetricians and Gynecologists, the Society for Women’s Health Research and the Women First Research Coalition have unveiled the National Strategy to Close the Women’s Health Gap.
The framework calls for a coordinated national effort to improve women’s health research, care and outcomes.
It says women make up more than half of the US population, but their health needs across conditions and life stages have been understudied and underserved for decades.
Kathryn Schubert, president and chief executive of the Society for Women’s Health Research, said: “The women’s health gap has persisted for far too long.
“This strategy offers Congress a road map to improve health outcomes, drive innovation, and build a healthier future for women, families, and communities.”
The strategy notes that Congress required women to be included in National Institutes of Health-funded clinical research through the NIH Revitalization Act in 1993.
However, it says major gaps remain in women’s health research, clinical care and how evidence is put into practice.
The plan proposes US$7bn for research and innovation, including expanded federal investment in women’s health research across the NIH, VA, DoD and the Advanced Research Projects Agency for Health.
It would also establish a Women’s Health Research Interdisciplinary Fund at the NIH and create a national network of Women’s Health Centers of Excellence.
The centres would aim to accelerate the translation of research into clinical care and serve as training sites for researchers and clinicians.
A further US$1bn would be used for regulatory coordination and modernisation, including cross-agency collaboration and work to address sex differences in drug and treatment approvals.
Sex differences are biological differences between females and males that can affect disease risk, symptoms, treatment response and side-effects.
The funding would also support updated NIH tracking systems for women’s health research investment and publication standards on how sex as a biological variable is considered in research.
The strategy calls for US$4bn for data and evidence infrastructure, including a public-private partnership focused on women’s midlife health data.
It would also convene a public workshop to review existing women’s health research datasets and develop common data elements to fill gaps and make datasets more widely available.
Another US$7bn would go towards strengthening the clinical and research workforce.
This would include career pathways, loan repayment programmes, a women’s health clinical workforce loan repayment programme modelled on the National Health Service Corps and interdisciplinary training.
The workforce measures would include particular emphasis on rural and underserved areas.
The final US$1bn would support public awareness and education campaigns to improve health literacy, preventive care and participation in women’s health research.
Health literacy means a person’s ability to find, understand and use health information to make decisions about care.
The campaigns would use digital and traditional media developed in consultation with patient advocacy organisations and relevant medical societies.
Sandra E Brooks, chief executive of the American College of Obstetricians and Gynecologists, said: “Closing the women’s health gap requires not only funding research, but also investment in the people who conduct that research and those who translate research findings and discoveries into better patient care.
“Strengthening the women’s health research and clinical workforce is critical to accelerating the innovation needed to improve health outcomes for women.”
The strategy says women have higher annual out-of-pocket healthcare costs than men and live 25 per cent of their lives in poorer health.
Supporters say this strengthens the economic and public health case for long-term congressional investment.
The framework has been endorsed by organisations across women’s health, ageing, heart disease, autoimmune disease, cancer, reproductive medicine and neurological conditions, including the Women’s Alzheimer’s Movement at Cleveland Clinic, the National MS Society and UsAgainstAlzheimer’s.
Hormonal health
Stardust period tracker shares health data, study reveals
Stardust shared sensitive period tracking data with third-party analytics firms, according to new privacy research from Mozilla.
The findings expose a privacy divide in femtech, where users often trust apps with highly sensitive reproductive health information.
The research was carried out by Mozilla’s Privacy Not Included team, which tested several period tracking apps.
It found that Stardust, a period tracker used by millions, shared users’ reproductive health data with analytics companies, a practice the research said contrasted with its privacy-first marketing.
Analytics companies collect and examine information about how people use digital products, often to help businesses understand user behaviour or improve marketing.
The findings raise questions about whether privacy promises made by health apps match what happens to users’ data.
According to research reported by TechCrunch, one other period tracking app tested by Mozilla received what researchers called a “squeaky clean” rating, suggesting similar services can operate without sharing sensitive health data in the same way.
Period tracking apps have come under greater scrutiny in the US since the 2022 overturning of Roe v Wade, which removed federal constitutional protection for abortion.
Some users and privacy advocates have warned that menstrual and reproductive health data could potentially be sought in legal cases.
The research also points to a broader regulatory problem for consumer health apps.
In the US, many health apps are not covered by HIPAA, the health privacy law that applies to medical providers and some healthcare organisations.
That means some consumer apps may be able to collect, share or monetise sensitive health data under rules that differ from traditional healthcare privacy protections.
The femtech market, estimated in the report at US$50bn, has grown quickly, but privacy regulation has not always kept pace with app development.
Stardust had not publicly responded to Mozilla’s findings at the time of the original report, and its privacy policy remained live on its website.
The issue is particularly sensitive for period tracking because the data can reveal patterns around fertility, pregnancy, contraception and reproductive health.
Mozilla’s wider Privacy Not Included initiative has examined consumer technology products for privacy and security concerns since launching in 2017, including connected devices, children’s toys and health apps.
The findings come as US lawmakers continue to debate stronger federal privacy rules for sensitive health information collected by consumer apps.
The American Data Privacy and Protection Act, which has been stalled in Congress since 2023, includes provisions addressing sensitive health information collected by consumer apps.
Experts have also warned that anonymised health data can sometimes be re-identified when combined with other information, such as location data.
Re-identification means linking supposedly anonymous data back to a specific person.
A 2019 study found that menstrual cycle data combined with location information could identify individual users with high accuracy.
State-level privacy laws in places such as California, Virginia and Colorado have also given consumers new rights around personal data, although enforcement can vary.
Privacy advocates say the research underlines the need for clearer data practices, stronger safeguards and greater transparency in femtech.
For users, the findings are a reminder that health apps do not automatically protect health information in the same way as healthcare providers.
The report suggests period tracker companies that put privacy first may be better placed to build trust in a market where long-term use depends on confidence.
Mozilla’s investigation suggests privacy promises in femtech do not always match practice, and that period trackers can function without sharing sensitive user data in the same way.
News
Juno Bio secures US$3.8m for precision diagnostics

Juno Bio has secured US$3.8m to expand its diagnostics platform for vaginal health and reproductive care.
The funding round was led by Ada Ventures, with participation from Artesian, Entrepreneur First and Illumina Accelerator.
The women’s health startup said the seed funding will support the launch of its first CLIA-certified sequencing laboratory in Oakland, California, and a new clinical vaginal microbiome and STI test for healthcare providers.
CLIA certification refers to US laboratory standards for testing human samples used in diagnosis, prevention or treatment decisions.
Dr Leighton Turner, co-founder and chief scientific officer of Juno Bio, said: “The vaginal microbiome is still one of the least understood systems in the body at a clinical scale.
“With our lab, we’re starting to build a measurement standard that clinicians can actually use.
“We believe the level of detail from this kind of testing can meaningfully improve how vaginal healthcare is provided.”
The company is developing precision diagnostics for vaginal health, where patients can experience recurring symptoms, inconsistent diagnoses and treatments based on trial and error.
Juno Bio said bringing testing in-house gives it greater control over the process, from sample handling to results, while allowing it to refine its technology and build what it says is one of the largest datasets focused on the vaginal microbiome.
The vaginal microbiome is the community of bacteria and fungi that naturally live in the vagina. Changes in this balance can be linked to infections, symptoms and wider reproductive health issues.
Juno Bio’s newly launched clinical test examines the wider vaginal microbiome and screens for four common sexually transmitted infections, or STIs.
Rather than looking for a single cause, the test is intended to give clinicians a broader picture of what may be contributing to symptoms.
Juno Bio says this matters because multiple infections can occur at the same time and microbiome changes may be linked to fertility, menopause or recurrent infections.
Dr Anna Powell of Johns Hopkins said: “Vaginal microbiome testing has the potential to significantly reshape how we understand and manage vaginal health, particularly for patients with recurrent or unexplained symptoms.
“While the field is still evolving, advances in sequencing and data interpretation are moving us closer to a future where more personalised, microbiome-informed care can complement existing diagnostic approaches.”
Check Warner, co-founding partner at Ada Ventures, added: “Juno Bio is setting a new standard for how vaginal health is understood and managed.
“What they’ve built at this stage, with this level of capital efficiency, is exceptional.
“We’re proud to support the team as they scale their clinical infrastructure and continue leading innovation in this critically underserved category.”
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