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UrduLearn how ancestry changes genetic risk variants’ impact on type 2 diabetes in childhood cancer survivors & alkylating agent exposure magnifies diabetes risk.
Tag: Genetic Variant
Faster progression of multiple sclerosis associated with newly identified genetic variant
In a new study of more than 22,000 people with multiple sclerosis (MS), an international team identified for the first time a genetic variant associated with faster progression of the disease and accumulation of disability. Despite the development of effective…
Study Gives Insight Into Cause of Severe Inflammatory Bowel Disease
Cedars-Sinai investigators have identified a genetic variant that increases people’s risk of developing perianal Crohn’s disease, the most debilitating manifestation of Crohn’s disease.
Family ties: Inherited genetic variants increase risk of Hodgkin lymphoma
Large populations studies have previously demonstrated that Hodgkin lymphoma occurs in families, pointing to a likely genetic predisposition that makes these families more likely to develop this cancer.
CHOP Researchers Develop New Computational Tool to Interpret Clinical Significance of Cancer Mutations
Researchers at Children’s Hospital of Philadelphia (CHOP) have developed a new tool to help researchers interpret the clinical significance of somatic mutations in cancer. The tool, known as CancerVar, incorporates machine learning frameworks to go beyond merely identifying somatic cancer mutations and interpret the potential significance of those mutations in terms of cancer diagnosis, prognosis, and targetability. A paper describing CancerVar was published today in Science Advances.
NUS researchers uncover hereditary mutation that drives aggressive head and neck, and lung cancers in Asian population
New research from the Cancer Science Institute of Singapore at the National University of Singapore revealed a genetic variant in a gene called MET that is responsible for more aggressive growth of head and neck, and lung cancers in Asian populations.
Researchers Validate Link Between Genetic Variant and Poor Outcomes in Men with Advanced Prostate Cancer
In a new Cleveland Clinic-led study published in JAMA Oncology, researchers show that a testosterone-related genetic variant – HSD3B1(1245C) – is associated with more aggressive disease and shorter survival in men with metastatic prostate cancer.
Study Identifies Genetic Anomaly Associated with Poor Response to Common Asthma Treatment
A new Cleveland Clinic study has uncovered a genetic anomaly associated with poor response to a common asthma treatment. The findings, published in Proceedings of the National Academy of Sciences, showed that asthmatic patients with the gene variant are less likely to respond to glucocorticoids and often develop severe asthma.
Genetic Variant Largely Found in Patients of African Descent Increases Risk for Heart Failure
A genetic variant in the gene transthyretin (TTR) is a more significant cause of heart failure than previously believed. The study also revealed that a disease caused by this genetic variant, called hereditary transthyretin amyloid cardiomyopathy, is significantly underdiagnosed.