Impact stories: Better understanding and treatment of severe diseases
The Swedish Research Council have conducted a quality review of pre-clinical medical research at universities in Sweden, focusing on excellence and societal impact. All fifteen impact case studies from the years 2018-2024 submitted by KI for evaluation received high ratings. Here are some of the selected impact cases highlighting new insights and therapies for serious diseases like cancer, neurodegenerative, and metabolic diseases.
Unravelling pathogenetic mechanisms in metabolic diseases identified by WGS
A first step in the transition towards precision medicine is represented by whole genome sequencing (WGS) for diagnosis of rare diseases. Professor Anna Wedell, Department of Molecular Medicine and Surgery, and Professor Anna Wredenberg, Department of Medical Biochemistry and Biophysics, have created a strong, translational environment combining cutting-edge basic science, highthroughput genomics and highly specialised clinical medicine in the area of inborn errors of metabolism. As a result, new groups of patients receive correct diagnoses and treatment in early disease stages, and novel pathogenetic mechanisms are unravelled by detailed mechanistic investigations in model systems. This paves the way for studies to further improve diagnostics and develop individualized treatments.
Selected publications
Transforming prostate cancer diagnostics and screening
Prostate cancer is the most common cancer in men. Professor Martin Eklund and colleagues at Karolinska Institutet have developed advanced methods combining protein biomarkers, genetics, clinical data, and imaging to improve the early detection and screening of prostate cancer. These methods have proven to be superior to traditional PSA testing and significantly reduces overdiagnosis of indolent prostate cancer, unnecessary biopsies, and health costs.
This research has been validated across diverse populations, affected European and US guidelines, and has been commercialized by A3P Biomedical to bring improved prostate cancer testing to the market to help patients in clincal routine.
Selected publications
Rethinking Nitrate: from suspected toxin to athletic enhancer and cardiovascular protector
Professors Jon Lundberg and Eddie Weitzberg at Karolinska Institutet’s Department of Physiology and Pharmacology redefined dietary nitrate, once deemed an inert byproduct, as an important source of nitric oxide (NO) with notable health benefits. Their discovery of the nitrate-nitrite-NO pathway revealed that nitrate from food, e.g., beetroot and leafy greens, could potentially improve cardiovascular health. Since their discovery, the field has grown significantly and influenced both dietary guidelines and product development for endurance athletes. Moreover, ongoing clinical trials suggest that dietary nitrate as a promising intervention for cardiovascular disease.
Selected publications
New synthetic lethal combination therapy for metastatic castration-resistant prostate cancer
Professor Thomas Helleday, Department of Oncology-Pathology at Karolinska Institutet, pioneered the development of a new treatment for castration-resistant prostate cancer (mCRPC), by combining poly (ADP-ribose) polymerase (PARP) inhibitors like olaparib with androgen deprivation therapy (ADT). This approach leverages ADT’s ability to block a specific type of DNA repair in cancer cells which makes them highly susceptible to PARP inhibition. Clinical trials have already demonstrated significantly improved progression-free survival and has led to regulatory approvals by the European Medicines Agency (EMA) and U.S. Food and Drug Administration (FDA) in 2022 and 2023, respectively. In Sweden, the Dental and Pharmaceutical Benefits Agency recently expanded the use of these treatments, and they are now included in the national care program. Helleday’s combination therapy offers a new, tolerable treatment option and sets a new standard for the care of patients with mCRPC.