Breakthrough in Gene Therapy: Repair Drive Technology Enables In Vivo Expansion of Hepatocytes Academic Background Gene therapy has become a hot topic in medical research in recent years, especially for liver diseases. Due to the central role of the liver in metabolism, it has become a critical target for research. Although existing gene-editing te...

Research on Ciliary Diseases: The Role of CCDC39/CCDC40 Heterodimer in Primary Ciliary Dyskinesia Academic Background Primary Ciliary Dyskinesia (PCD) is a rare monogenic disorder characterized by chronic respiratory infections, infertility, and organ laterality defects. Although more than 50 genes associated with PCD have been identified, mutation...

Multi-Ancestry Genome-Wide Association Study Reveals New Loci for Prostate-Specific Antigen Levels and Improves Prediction Across Ancestral Groups Research Background and Problem Statement Prostate-specific antigen (PSA) is a protein secreted by the prostate gland, commonly used for prostate cancer screening. However, PSA levels are influenced not ...

Research Background and Problem Statement Hereditary Folate Malabsorption (HFM) is a rare autosomal recessive disorder characterized by impaired intestinal absorption of folates and hindered transport across the choroid plexus into cerebrospinal fluid. This disease is caused by inactivating mutations in the gene encoding the Proton-Coupled Folate T...

A New Framework for Multi-Trait Rare Variant Analysis: Multistaar Research Background and Problem Statement With the advancement of next-generation sequencing technologies and the decreasing cost of whole-genome sequencing (WGS), researchers can delve deeper into the impact of rare variants on complex human traits. However, single-trait analysis me...

Promoting Healthy Longevity: Implementation Recommendations for the Hevolution Alliance for Aging Biomarkers Initiative Academic Background and Research Motivation With the intensification of global population aging, human life expectancy has significantly increased, but the growth in healthy life expectancy (i.e., years lived in good health) has b...

Mechanism Study on 5-Hydroxytryptamine Regulating Histone Modifications to Drive Liver Metastasis Academic Background Cancer metastasis is one of the leading causes of cancer patient mortality, especially visceral organ metastases such as liver metastasis (liver metastasis). Neuroendocrine tumors (NETs) are a class of highly metastatic tumors, amon...

A Cross-Tissue Transcriptome-Wide Association Study Identifies New Susceptibility Genes for Insomnia Background Insomnia is the second most prevalent psychiatric disorder, affecting nearly one-third of the global population. It not only diminishes quality of life but also increases the risk of cardiovascular diseases, metabolic disorders, mood diso...

Inflammatory Proteins and Hidradenitis Suppurativa: Insights from Genetic Correlation and Mendelian Randomization Studies Research Background Hidradenitis Suppurativa (HS) is a chronic inflammatory skin disease characterized by recurrent nodules, abscesses, and sinus tracts, commonly found in areas of skin friction such as the armpits, groin, peria...

History and Prospects of Nagashima-Type Palmoplantar Keratosis Background Palmoplantar keratoderma (PPK) is a group of hereditary or inflammatory skin disorders characterized by hyperkeratosis of the palms and soles, with diverse clinical manifestations and complex diagnostic criteria. Nagashima-type palmoplantar keratosis (NPPK) is the most common...