European Genomic Reanalysis of Rare Diseases: New Diagnoses and Future Blueprint Academic Background Rare diseases are defined as conditions affecting a very small proportion of the population, with the European Union setting the threshold at fewer than 50 individuals per 100,000. Despite the vast diversity of rare diseases (over 6,000 types), more...

High-precision Base Editing Technology in Primates and Human Retina Research Background Stargardt disease is a currently untreatable, inherited neurodegenerative disease that leads to macular degeneration and blindness due to loss-of-function mutations in the ABCA4 gene. The protein encoded by the ABCA4 gene is a membrane lipid flippase localized i...

Study on Hormone-Neuropeptide Pathway Inhibiting Sexual Receptivity in Immature Drosophila Females Academic Background Sexual maturation is a critical developmental event in the transition from juvenile to adult, accompanied by multiple physiological and behavioral changes. In Drosophila, the process of transition from an asexual state to sexual ma...

Correlation between PTDP-43 Levels and Cell-Specific Molecular Alterations in the Prefrontal Cortex of C9orf72 ALS/FTD Patients Background Introduction Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) are two types of progressive neurodegenerative diseases. Their common feature is the loss of specific neuronal populations in th...

Identification of Polycystin 2 Missense Mutants Targeted for Endoplasmic Reticulum-Associated Degradation Academic Background Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a common genetic disorder that ultimately leads to end-stage renal disease. ADPKD primarily arises from mutations in the PKD1 and PKD2 genes, which encode Polycystin 1 ...

Cell-Type Classification of Psychiatric Disorders: New Study Reveals Cellular Basis of Schizophrenia and Other Complex Brain Disorders Academic Background Psychiatric disorders, such as schizophrenia, depression, and bipolar disorder, are significant public health issues worldwide. These disorders are typically caused by a combination of multiple g...