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...