Hirsutism is the excessive hair growth in women in male-typical areas, usually associated with androgen excess and other conditions such as polycystic ovary syndrome (PCOS). The genetic basis of hirsutism remains poorly understood; researchers from the University of Oulu and collaborators performed a meta-analysis of genome-wide association studies from 4,834 cases of hirsutism and 352,966 controls across three cohorts.
Alpha-1 antitrypsin deficiency (AATD) is a monogenic disease caused by mutations in the SERPINA1 gene, which encodes alpha-1 antitrypsin (AAT), a serine protease inhibitor mainly produced by hepatocytes.
Primary open-angle glaucoma (POAG) is among the leading causes of irreversible blindness. Early detection and treatment are crucial for vision preservation, and research to identify genes associated with POAG is ongoing.
Meningiomas are usually grade I benign tumors that can turn into aggressive grade II or III malignant tumors. Genome-wide methylation analysis has shown that microRNA 1265 (miR-1265) is hypermethylated in meningiomas.
Endometrial cancer is the most prevalent gynecological malignancy in high-income countries, and the discovery of new biomarkers may aid in earlier detection and improve the prognosis of patients.
NOD2 deficiency is involved in the pathogenesis of Crohn’s disease (CD) due to failure of gut innate immunity and loss of intestinal tissue homeostasis. Orchard Therapeutics Ltd. has presented preclinical data on OTL-104, human hematopoietic stem cell (HSC) gene therapy for the treatment of NOD2-deficient CD.
Essential tremor is a movement disorder marked by involuntary, rhythmic shaking in the hands but sometimes affecting the head, voice and other areas. Its exact cause is still unknown. Recent research suggests that dysfunction in the neurotransmitter systems, particularly involving γ-aminobutyric acid (GABA), contributes significantly to the disorder.
CXC chemokine receptor 4 (CXCR4) is a receptor overexpressed in several tumor types and associated with tumor aggressiveness and risk of metastasis, resistance and recurrence. A novel PET radiopharmaceutical tracer and CXCR4 ligand, [68Ga]NOTA-R-54, was developed and tested for potential use in the treatment of lung cancer.
A preclinical study presented at the 32nd Annual Congress of the European Society of Gene and Cell Therapy (ESGCT), held in Seville Oct. 7-10, showed a new epigenetic editing technology that enables durable gene silencing using ELXRs, short for Epigenetic Long-Term X-Repressors. With this approach, scientists at Scribe Therapeutics Inc. successfully inhibited the expression of the PCSK9 gene, a key regulator of cholesterol metabolism, in human cells, mice and nonhuman primates.
RSS
