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.
Pulmonary arterial hypertension (PAH) is a life-threatening disease; vasodilators may aid in managing this condition, but their impact on prognosis is still limited, potentially due to a lack of biomarkers to guide therapy. Japanese researchers have presented results of their efforts to discover potential molecular markers that may predict response to pulmonary vasodilators.
Researchers at Seoul National University and the National Cancer Center examined public datasets from patients as well as the whole-exome sequence from one of their own patients, who developed radiation-induced sarcoma after treatment.
Minovia Therapeutics Ltd. has announced a $350,000 grant from Countdown for a Cure for a research proposal related to the development of novel mitochondrial blood-based biomarkers.
Chinese researchers have developed a new a circulating exosomal proteomic biomarker signature that may aid in the diagnosis of interstitial lung disease (ILD) in combination with computed tomography. Exosomes may contribute to lung disorders by carrying cargoes that promote inflammatory responses in immune and lung epithelial cells. The assay was performed in a case-control biomarker study; exosomes from 168 serum samples were extracted and submitted to proteomic analysis.
Heat shock protein family H member 1 (HSPH1) plays a key role in cellular stress and protein homeostasis, and it has been implicated in proliferation, invasion and metastasis of tumor cells. A recent study aimed to investigate the link between HSPH1 and the prognosis of HCC.
Calcific aortic valve disease (CAVD) is the most prevalent acquired valve heart disorder in aging populations. Its most severe form in aortic valve stenosis (AVS), with an average survival of 2-3 years once symptoms appear. The early diagnosis of AVS based on circulating biomarkers is crucial to label high-risk patients before they progress to the severe form.
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