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.
Restrictive element-1 silencing transcription factor (REST) has key roles in neuronal differentiation, structural remodeling and plasticity, contributing to neuronal homeostasis in postnatal neurons. It acts as a suppressor of neuronal gene expression in stem and progenitor cells, and abnormal accumulation of it has been linked to several neurological disorders, like Huntington’s disease, epilepsy and stroke.
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.
To identify potential biomarkers of interstitial lung disease, researchers at West China Hospital of Sichuan University and Minda Hospital of Hubei Minzu University mined the Gene Expression Omnibus database of transcriptomes as well as compared tissues across healthy individuals and patients with connective tissue disease, who had interstitial lung disease or not.
A recent study published in PLOS Genetics has identified several novel genetic variants associated with the risk of orofacial clefts, a common and complex congenital disability. Orofacial clefts are caused by a combination of genetic and environmental factors and can occur in isolation or simultaneously with other birth defects.
A team of U.S. and South Korean researchers have developed an AI model called MSI-SEER that can not only predict microsatellite instability-high (MSI-H) tumors based on tissue slides, but also flag “what it does not know.” “Have you ever asked ChatGPT anything, and the response was, ‘I don’t know?’” Cheong Jae-ho asked during an interview with BioWorld. “Probably not, and that is the problem with AI now.”
Antibody-based therapy against CD20 has had successful results in the treatment of multiple sclerosis (MS), but some patients still have incomplete response to therapy and clinical relapse. The early identification of predictors of response is key to optimize treatment strategies. Proteomic profiling in serum of patients may confer the identification of candidate markers for patient stratification and support personalized treatment approaches.
Experts agree that the earlier Alzheimer's disease is detected, the sooner action can be taken. And so, the key to preventing deterioration is identifying the most effective early biomarkers, those that can spot the disorder and help halt its progression. Recent advances in the field have pushed a new era of early detection through blood-based biomarkers and personalized medicine strategies based on each patient’s genetic, immunological and clinical profile.
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