by admin | Aug 16, 2025 | News
Interpreting the effects of genetic variants remains a major challenge in recessive diseases, where clinical outcomes often depend on interactions between alleles. Multiplex assays of variant effects (MAVEs) measure variant function at scale, but nonlinear...
by admin | Aug 15, 2025 | News
Single-cell transcriptomics has revealed the central role of microglia in brain development, homeostasis, and disease, particularly in the context of neuroinflammation. While single-cell RNA-sequencing enables targeted microglial analysis from fresh tissue, studying...
by admin | Jun 30, 2025 | News
Fabry disease is an inherited metabolic disease that is caused by an abnormal accumulation of sphingolipids, including globotriaosylceramide (Gb-3), in lysosomes. Patients with Fabry disease have reduced or absence of an enzyme called α-galactosidase, which...
by admin | May 28, 2025 | News
The aim of this thesis was to develop and characterize flow-through reactors based on the immobilization of alternative aspartic proteases-mucorpepsin and rhizopuspepsin-and to evaluate their applicability for the digestion of model proteins and the therapeutic...
by admin | May 7, 2025 | News
Sex-specific penetrance in autosomal dominant Mendelian conditions is largely understudied. The neurodevelopmental disorder Pilarowski-Bjornsson syndrome (PILBOS) was initially described in females. Here, we describe the clinical and genetic characteristics of the...
by admin | Apr 15, 2025 | News
Despite the natural ability of the immune system to recognize cancer and, in some patients, even to eliminate it, cancer cells have acquired numerous evading mechanisms. With the increasing knowledge and focus shifting from targeting rapidly proliferating cells with...