Medical research has significantly transformed the management of many diseases, yet women have been left behind due to the systematic underinvestment in research targeting women’s health. Accurate diagnoses and efficient therapies can only be developed with sufficient research; however, existing research biases have ensured that medical care, as it is currently applied to women, is less evidence-based than that provided to men.
To tackle this knowledge gap, we at FIMM conduct large-scale research into common, understudied diseases in women to uncover molecular drivers impacting on disease susceptibility, progression and treatment. Our comprehensive FinnGen project, which combines extensive genetic and health data for over 520,000 people, works closely with healthcare providers, the global research community, and 14 of the world-leading pharmaceutical companies, and provides us with unique possibilities to translate cutting edge scientific discoveries into improved care. Utilising genetic and health data from FinnGen, we can focus on various conditions specific to women across their lifespans without the need for recruiting new study participants.
Understanding the molecular basis of common disease is essential for predicting, preventing, diagnosing, and treating disease. Our previous work has significantly contributed to breakthroughs in this field. Below we list published case studies from our researchers with a clear focus on conditions specific to women.
Unlike for the other forms of diabetes, there is remarkably little research into the molecular causes of gestational diabetes, a severe and common pregnancy complication.
Our researchers have performed the largest genetic study of gestational diabetes to date, nearly tripling the number of known genetic areas associated with it. The results shed light on previously unknown physiological mechanisms related to the development of diabetes that involve adaptive changes in the brain.
Breast cancer is the most common fatal cancer in women. Cancer screenings aim to detect early-stage cancers and thus ensure timely and effective treatment of the patient.
Our results demonstrate that genetic risk information can help tailor and target breast cancer screening more effectively to the women who would benefit the most. The group at high risk could benefit from initiating screening significantly earlier—by up to ten years.
Cervical cancer is highly preventable but remains a common and deadly cancer in areas without screening programs.
Our clinical studies in Kenya and Tanzania show that artificial intelligence-supported digital microscopy diagnostics is feasible in a real-world setting for screening of cervical cancer. Digital pathology has enormous potential for saving women’s lives.
Up to 15% of all couples suffer from infertility at some point in their lives. Lack of knowledge about the causes of fertility problems can lead to prolonged clinical testing and extended treatment periods.
Our research has discovered a genetic defect that affects the maturation of oocytes, leading to infertility in women who have inherited the non-functional form of a gene called TBPL2 from both parents. This discovery provides new insights into the genetic causes of infertility and may help develop diagnostics or new treatments for women suffering from infertility.
Epithelial ovarian cancer often goes undetected until advanced stages, making it one of the most lethal gynecological cancers. There is a critical need for better diagnostic and treatment strategies.
Our research demonstrates that analyzing how ovarian cancer cells from patients respond to different treatments in a lab setting offers valuable insights into how these cancers depend on specific pathways and how they might react to various drugs or combinations.
A recent study focused on how standard chemotherapy affects the immune system in ovarian cancer. By investigating which cell types in ovarian cancer tumors interact with one another, especially after chemotherapy, it showed that chemotherapy can change tumors, making them more vulnerable to new types of treatments. This research will hopefully lead to clinical trials where patients are selected for new immunotherapy treatments based on specific biomarkers.