This research significantly contributes to the public health sector, particularly within fetal cardiology and prenatal care. By assessing the reliability of fetal cardiac strain measurements, this thesis evaluates whether Speckle Tracking Echocardiography (STE) can be reliably implemented into routine clinical practice. Currently, STE is not used in prenatal clinical practice …

In this project we aim to improve the knowledge on how aberrant splicing regulation of the proteostasis network impact T-cell acute lymphoblastic leukemia (T-ALL) initiation and pathogenesis. We believe improved understanding of leukemia biology may provide novel therapeutic strategies for pediatric and adult patients that may respond insufficiently to standard-of-care …

In modern society, we encounter ionizing radiation from routine medical exams and cancer patients undergoing radiotherapy treatments to cosmic radiation, which particularly affects astronauts. Many risks are associated with radiation exposure, making it crucial to protect ourselves as effectively as possible against its potential harm. This study explores a novel …

HIV-1, the virus responsible for AIDS, exhibits significant genetic diversity, classified into various subtypes and recombinant forms. Historically, research and diagnostic efforts have predominantly focused on subtype B due to its prevalence in Western countries. However, subtype B accounts for only about 11% of global HIV-1 infections, leaving approximately 90% …

Pancreatic cancer is one of the deadliest forms of cancer, often diagnosed too late and resistant to many treatments. A new type of drug, called KRAS G12C inhibitors, has recently been developed to target a specific mutation found in some pancreatic cancer patients. While these drugs offer new hope, many …

Duchenne Muscular Dystrophy (DMD) is a severe, progressive neuromuscular disorder for which no curative treatment exists. Gene therapies and exon-skipping strategies targeting the DMD gene have entered the clinic, however, their efficacy is limited by mutation heterogeneity necessitating highly personalized, mutation-specific approaches. Glucocorticosteroids remain the standard of care but are …

This research explores how the cells lining our airways may help clear dead or dying cells in the lungs, especially in diseases like Chronic Obstructive Pulmonary Disease (COPD). If we better understand this natural cleaning process, it could lead to new ways to treat lung diseases that currently have limited …

Societal impact abstract: This research focuses on radiopharmaceuticals, a class of medical product increasingly used in clinical care, particularly for cancer treatment. The findings of this study may have implications for the healthcare system by contributing to the development of personalized dosimetry. By enabling more tailored and precise administration of …

Duchenne muscular dystrophy is a rare but devastating genetic disorder that primarily affects young boys. It is caused by mutations in the DMD gene, resulting in the absence of dystrophin, a protein critical for muscle integrity. This deficiency leads to progressive muscle wasting, loss of mobility, and premature death, often …

Triple-negative breast cancer (TNBC) is a fast-growing and aggressive type of breast cancer that accounts for 10-15% of all breast cancer cases. It spreads easily to other parts of the body and in nearly half of the TNBC patients, the cancer will form metastases. When this happens, the survival time …