Women’s health has long been considered a niche area of research, though it involves roughly 50% of the world’s population. Many researchers using 10x Genomics technologies are catalysts of women’s health research, challenging this bias and changing the research landscape. To honor Women’s History Month, we showcase some of their achievements to advance women’s health. Read more in this blog.
Why women’s health research
“I decided to pursue women’s health research because there is so much we do not know about women’s physiology. We cannot help people reach their potential and live healthy, long lives if we do not understand many fundamental bodily functions and life events, such as pregnancy and menopause.” - Dr. Stella Goulopoulou, Associate Professor, Longo Center for Perinatal Biology, Loma Linda University
“There has been a delay in our basic understanding of reproductive tissues. Now with the application of these novel technologies we can get more insight…which will have a huge impact on women’s health.” - Dr. Roser Vento-Tormo, Group Leader, Cellular Genetics, Wellcome Sanger Institute
Though certain areas of women’s health, such as menstruation or pregnancy, are (and have always been) a central part of the female experience, scientists and doctors still have much to learn about these life events and how they can go awry in the context of disease. And reproductive health is just one aspect of women’s health. A 2010 government report (1) on recent progress in women’s health research commented on the following gaps in the field:
- Unintended pregnancy
- Autoimmune diseases
- Alcohol- and drug-addiction disorders
- Lung, ovarian, endometrial, and colorectal cancer
- Nonmalignant gynecologic disorders
- Alzheimer’s disease
Other reports suggest there is more than a gap in understanding of these crucial disorders. Historical gaps in research funding and women's representation in clinical studies have also prevented steady progress (1, 2).
These and other factors affecting the pace of women’s health research, and, ultimately, the healthcare experience for women, have motivated a number of scientists to invest new technology and multidisciplinary study into the field—and call other scientists to do the same. Two such scientific catalysts are Dr. Stella Goulopoulou, Associate Professor at Longo Center for Perinatal Biology, Loma Linda University and Dr. Roser Vento-Tormo, Group Leader at Wellcome Sanger Institute.
We spoke with both scientists to get their perspective on the state of women’s health research and to learn more about their contributions to this important area of study.
Impact of maternal mitochondrial DNA on pregnancy health
“For the past few years, my group has been trying to understand how fragments of mitochondrial DNA that circulate in maternal blood could make pregnant individuals sick. [...] This information could lead to diagnostic or prognostic tests for pregnancy complications, such as preeclampsia, but it will also help us understand and know more about the physiology of pregnant individuals.” - Dr. Stella Goulopoulou
The origins of preeclampsia, a rare condition causing potentially life-threatening high blood pressure, fever, and subsequent organ dysfunction in pregnant and postpartum women, have been debated for many years. Some research has looked for genetic causes or pointed to the accumulation of specific proteins in maternal blood as drivers of the disease without clear answers (3). For Dr. Goulopoulou and her team, mitochondrial DNA represents a possible culprit.
“We want to know where this DNA comes from, how it interacts with the maternal organs, and how we can interrupt this interaction if, indeed, it is as bad as we think it is. There is also the possibility that these fragments of DNA, when they’re transported in some sort of vesicular structures—they help communication between the fetus and the mother.”
To study the effects of mitochondrial DNA on pregnancy health, Dr. Goulopoulou has used experimental tools spanning “from cell culture models to preclinical experimental models and clinical data. This multimethod, multimodal approach is possible because of the collaboration we have built over the past few years with Dr. Nicole Phillips, a mitochondrial geneticist at the University of North Texas Health Science Center in Fort Worth, Texas.”
There is more work to be done for Dr. Goulopoulou and her team, but defining the role of maternal mitochondrial DNA in pregnancy disorders and maternal–fetal communication would contribute important data to build out our understanding of the complex microenvironment of the developing fetus—and support better health outcomes for pregnant women. Technologies like those from 10x Genomics, that provide detailed resolution and multidimensional insights, will be a key part of finding the answers.
Healthy endometrial regeneration sheds light on endometriosis
“Endometriosis is a devastating disease that affects more than 10% of women in reproductive age.” - Dr. Roser Vento-Tormo
For women with endometriosis, a painful condition where tissue that normally lines the uterus begins to grow outside of the uterus on other pelvic organs, treatment options, beyond pain management, are limited and can be drastic, including hysterectomy. However, ongoing research to understand the healthy endometrium is providing new insights into what may be behind this abnormal growth. Dr. Roser Vento-Tormo has been spearheading these research efforts:
“So far we have been focused on developing a healthy atlas, to study how the healthy endometrium will regenerate over the menstrual cycle. This is an amazing reference to understand how the progenitors and the other cell states behave, and to understand where they’re located. Then we can use this reference to understand what’s altered in disease.”
“To address our questions we use a quantitative biology approach, where we combine single cell genomics, computational tools, and also in vitro models.” Dr. Vento-Tormo and colleagues published new findings enabled by single cell and spatial gene expression tools from 10x Genomics in their recent Nature Genetics publication, Mapping the temporal and spatial dynamics of the human endometrium in vivo and in vitro. You can also find a synopsis of her team’s research in our blog.
Gaps in women’s health research: A scientific and social dilemma
“We cannot improve women’s health unless we sincerely acknowledge that socioeconomic disparities contribute to healthcare and health policy disparity. [...] We have come far, but we have a long way to go before we can proudly say we have advanced healthcare for all girls and women.” - Dr. Stella Goulopoulou
“In order to advance women’s health, we also need the funding agencies to join and understand the importance of this. [...] We call other teams to join and to start addressing these big issues using multiple technologies.” - Dr. Roser Vento-Tormo
Though there has been much progress over the years for women’s health research, delays and gaps remain. At 10x Genomics, we are proud to support scientists who are not only pushing the boundaries of this field through innovative experimentation, but also raising awareness of the social and institutional barriers preventing advancement of women’s health research—and championing solutions that will positively impact our larger society.
- Institute of Medicine (US) Committee on Women's Health Research. Women’s Health Research: Progress, Pitfalls, and Promise. Washington (DC): National Academies Press (US); 2010. 6, Synthesis, Findings, and Recommendations. Available from: https://www.ncbi.nlm.nih.gov/books/NBK210140/
- S Seervai. Closing the medical research gap: Why it’s important to study how disease impacts men and women differently (Commonwealth Fund, Mar 2019). https://doi.org/10.26099/61m9-k921
- J Roberts and H Gammill. Preeclampsia: Recent insights. Hypertension 46: 1243–1249 (2005). https://doi.org/10.1161/01.HYP.0000188408.49896.c5