Celebrating Women’s History Month: Trailblazing Women in Human Genetics and Genomics

March marks Women’s History Month, a time to recognize and celebrate the contributions and achievements made by women throughout history. This year’s theme, ‘Moving Forward Together: Women Educating and Inspiring Generations,’ celebrates the invaluable contributions of women and femme-identified individuals in the realms of education, mentorship, and leadership. This focus is especially significant to our community.

In this article, I want to spotlight several women from the human genetics and genomics community whose groundbreaking contributions have not only shaped today’s leaders but also continue to inspire and pave the way for future generations. As we celebrate these trailblazers, it’s important to also recognize the next generation of women scientists who are already making significant strides in the field—five of whom are demonstrating remarkable leadership and innovation in the field.

Women have made significant contributions to human genetics and genomics and to the ASHG, where a number of women have served as president of the Society, despite historical barriers and underrepresentation. Through their groundbreaking research, women have shaped the trajectory of human genetics. Their work has not only expanded scientific knowledge but also has provided practical applications in medicine, healthcare, and genetics, impacting countless individuals and families around the world.

Much of the fundamental groundwork for genetics and genomic research was laid in the 20th century, with significant contributions from women scientists, some of whom worked during times when acceptance, much less recognition, of women researchers was not widespread. However, women have moved the needle in their respective scientific fields for generations. Their countless contributions have helped cure devastating diseases, develop technologies, and so much more.

Recognition of Pioneering Women in the Field

Despite the obstacles and against the odds during some of the times in which they worked, there have been many women scientists who have revolutionized the field. To understand women’s role and importance in the field of genetics and genomics, it’s essential to pay tribute to a few pioneering individuals whose contributions have shaped its progress over time and who are winners of ASHG’s Lifetime Achievement Award, bestowed originally as the William Allan Award:

• Kay Davies, CBE, DBE, F.MedSci., FRS is a renowned geneticist known for her groundbreaking research on muscular dystrophy, particularly her work on the genetic basis of Duchenne muscular dystrophy and the development of potential gene therapies for the condition.
• Uta Francke, MD, is a prominent geneticist recognized for her research on X-linked genetic disorders, particularly her work on the identification of genetic mutations responsible for various developmental and neurological diseases.
• Pat Jacobs, OBE, FRS, FRS(Edin), BSc(hons), DSc, is a pioneering geneticist who made significant contributions to the understanding of chromosomal abnormalities, particularly through her work in identifying the role of the X chromosome in human development and diseases.
• Mary-Claire King, PhD, is a pioneering geneticist best known for her discovery of the BRCA1 gene, which is linked to an increased risk of breast cancer, and for her work in establishing the genetic basis of human inheritance and disease.
• Mary Lyon, FRS, was renowned for formulating the Lyon hypothesis, which proposed that in female mammals, one of the two X chromosomes in each cell is randomly inactivated, providing a foundational understanding of X-chromosome dosage compensation.
• Elizabeth Neufeld, PhD, is a key figure in human genetics, known for her groundbreaking work on lysosomal storage diseases, particularly her identification of the genetic basis of mucopolysaccharidoses.
• Dorothy Warburton, PhD, was a pioneering geneticist known for her research on chromosomal abnormalities, particularly her work in the analysis of Down syndrome and other congenital genetic conditions.

Highlighting Contemporary Leaders

Today, we see women across human genetics and genomics still breaking barriers. ASHG and our community continue to be shaped and strengthened by the visionary leadership of exceptional women. In fact, 12 of the 18 members of the current ASHG’s Board of Directors are women, including myself. These women, my peers, and many others in the field lead with intelligence and integrity but are also paving the way for future generations of leaders.

As we reflect on the pioneering women who have shaped the field of science throughout history, it is equally important to recognize the outstanding contributions of the next generation of today’s women leaders. These five women, current members of ASHG, continue to build on the legacy of their predecessors, pushing boundaries, driving innovation, and challenging norms.

• Catherine Tcheandjieu, DVM, PhD, is an assistant investigator at Gladstone Institutes. She is also an assistant professor in the Department of Epidemiology and Biostatistics at University of California, San Francisco. She harnesses her expertise in population genetics and statistics to understand the factors contributing to disease in diverse populations, and the genetic root of disease in these groups. Using genomics and machine learning technology, her lab aims to define the genes associated with complex diseases in diverse human populations.
• Eimear Kenny, PhD, is a professor of medicine and genetics at Mount Sinai and is the founding director of the Institute for Genomic Health. She leads research at the interface of genomics, medicine, and computer science. Her innovative work to use data science and massive-scale databases of genomic information is leading to improved human health.
• Jasmine Mack, MPH, MS, is a final-year PhD candidate training between the University of Cambridge Department of Obstetrics and Gynaecology and the National Institute of Environmental Health Sciences in the Biostatistics and Computational Biology Branch, as part of the NIH-Oxford-Cambridge Scholars Program. Her research utilizes multi-omics data integration to investigate the role of genetic and environmental factors in cardiometabolic disorders of pregnancy and autoimmune diseases. By disentangling maternal and fetal genetic contributions, her work is leading to greater understanding of how placental gene expression and circulating placental proteins influence pathogenesis. Her advocacy for representation of historically excluded people as researchers as well as participants in research studies is critically important in our field.
• Krystal Tsosie, PhD, MPH, MA, is an assistant professor at Arizona State University and associate director of the ASU Biodiversity Knowledge Integration Center. While a graduate student, she co-founded with other Indigenous scientists and community members the Native BioData Consortium, the first Indigenous-led biobank and research nonprofit for Tribal Nations in the United States. Her current research explores social, structural, and genomic determinants of health and constructing Tribal digital data infrastructures. Her aims are to improve Tribal health outcomes, operationalize Indigenous genomic data governance digitally, and transform how we think about data ethics across subdisciplines in genomics and precision medicine. She currently serves as the early career director for the American Society of Human Genetics.
• Genevieve Wojcik, PhD, MHS, is an associate professor at the Johns Hopkins University Bloomberg School of Public Health. As a statistical geneticist and genetic epidemiologist, her research focuses on method development for diverse populations, specifically in admixed populations. Many of her efforts focus on improving statistical methods for complex trait mapping and polygenic risk scores for these populations to address existing health inequities and ensure downstream translation for all.

My success has been deeply shaped by the mentorship and support of incredible women scientists who have guided and encouraged me throughout my journey. Their wisdom, advice, and unwavering belief in my potential have not only helped me overcome challenges but have also inspired me to pay it forward, contributing to the growth and empowerment of future generations of women in science.

This month, let us not only celebrate the women who have shaped history, but also commit ourselves to building a future where women everywhere can thrive, unimpeded by the barriers of inequality. Let us all take a moment to reflect on the indelible mark that women have made in this amazing profession