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XDP is a Parkinson's-like hereditary disorder that occurs mainly in the Philippines, where it affects almost exclusively males. In recent years, we have been able to decipher many of the genetic mechanisms that influence the age of onset and expression of this disease. In addition to genetic factors that are fixed from birth, epigenetic factors can change over time and represent a novel approach that has already been used, for example, to show that Parkinson's is associated with an accelerated aging process.

Sleep is crucial for brain and cardiovascular health. Aging alters sleep patterns, affecting physical and cognitive well-being. Our research, using functional and structural MRI, explores the causal relationship between sleep, body, and brain functions. The scientists investigate how sleep disturbances impact brain fluid dynamics, revealing connections to neurodegenerative disorders. They further examine heart-brain interplay during sleep, assessing hemodynamic changes and potential links to elevated blood pressure.

The transkatheter edge-to-edge mitral valve repair (M-TEER) is an established prognosis-improving treatment for patients with severe mitral valve regurgitation. However, current data show that concomitant dysfunction of the right ventricle can significantly worsen the prognosis after interventional M-TEER. 

Cardiac arrhythmias can significantly impact quality of life and increase mortality. Studies have shown sex-specific differences in the heart’s electrophysiology, with hormones like estrogen and testosterone potentially playing a role. In this project, the scientists use human heart muscle cells derived from stem cells to investigate how these hormones influence heart function. The goal is to better understand whether sex hormones protect women from certain heart rhythm disorders and to explore new strategies for targeted therapies.

Myasthenia gravis (MG) is a rare autoimmune disorder. B cells produce antibodies against structures located at the junction between nerves and muscles. As a result, affected individuals suffer from muscle weakness and rapid fatigue. B cells are a promising target for modern therapeutic approaches. However, disease-causing B cells are quite rare, which is why it is crucial to gain a better understanding of B cells and their development in the context of MG.

This research focuses on primary Distal Renal Tubular Acidosis (dRTA), a rare childhood-onset kidney disorder, causing metabolic acidosis and renal damage. About 60% of cases are linked to a single gene disorder, leaving potential new disease genes to be discovered. In genetically unsolved dRTA patients, the scientists identified variants in WDR72 as a potential novel dRTA cause. Here, they aim to define a role for WDR72 in normal renal function but also in dRTA pathogenesis.

Cerebral small vessel disease (CSVD) affects small blood vessels in the brain and is one of the most common neurological diseases. CSVD can contribute to stroke and mental decline and thus represents a major health burden to our society and healthcare systems. The MECh-Mikro-project focuses on the development of a game-changing diagnostic method to characterise CSVD which is currently not possible. For this, magnetic resonance elastography will be used to measure brain and vessel stiffness.

Aggressive lymphomas are cancer types that originate from a subtype of white blood cells, the lymphocytes. Diffuse large B-cell lymphoma is the most common subtype of lymphoma and is characterized by an aggressive clinical course. In the preliminary work, the researchers identified proteins responsible for regulating phosphorylation sites (phosphatases) that drive lymphoma growth.

Multiple sclerosis (MS) is a common neuroinflammatory disorder is driven by a dysregulated immune response directed against central nervous system self-antigens, which results in the formation of inflammatory lesions. To prevent attack by auto-aggressive T cells and to resolve inflammation within the tissue, the body's natural mechanisms of tolerance induction are of great importance.

In glaucoma, sensory cells in the optic nerve and retina degenerate. If not treated in time, the disease leads to permanent loss of vision and, in the worst case, blindness. The exact causes of this complex disease are not yet fully understood. In addition to increased intraocular pressure, the main risk factor, an altered immune response also plays an important role. Antibodies against small heat shock proteins (HSP) were detected in glaucoma patients. The aim is now to develop a new therapy option based on these findings.