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Division of Genetic Medicine Archives

Large, diverse genetic study of glaucoma implicates vascular and cancer-related genes

Feb. 21, 2024—An international genetic study using multiancestry biobanks has identified novel genetic locations associated with primary open-angle glaucoma, the most common type of glaucoma and the leading cause of irreversible blindness globally.

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Study links gene network and pancreatic beta cell defects to Type 2 diabetes

Dec. 4, 2023—A comprehensive study that integrates multiple analytic approaches has linked a regulatory gene network and functional defects in insulin-producing pancreatic beta cells to Type 2 diabetes.

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After 40 years, genetics still surprises VUMC’s Nancy Cox

Nov. 10, 2023—As she looks back on her 40-plus year career, what surprises Nancy Cox, PhD, an internationally known geneticist at Vanderbilt University Medical Center, is how much progress has been made, and yet how much more there is to learn about the role genetic variation plays in human disease.

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Kidney disease gene also has a protective mutation

Oct. 5, 2023—African Americans have long been known to be at increased risk of kidney disease due to a dangerous genetic mutation that creates a hole in the kidney cells, but Vanderbilt researchers have now discovered a protective genetic mutation that covers the hole to eliminate the risk.

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Research fellowship for genetic counselors established at Vanderbilt

Oct. 3, 2023—Vanderbilt University School of Medicine has received a grant to establish a research fellowship for genetic counselors that will prepare them to contribute more fully to the advancement of personalized medicine.

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Nancy Cox receives American Society of Human Genetics Leadership Award

Jul. 26, 2023—Nancy Cox, PhD, director of the Vanderbilt Genetics Institute, is the recipient of the 2023 ASHG Leadership Award from the American Society of Human Genetics.

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New view of mutations informs disease risk, treatment response

May. 18, 2023—A transcontinental research effort led by scientists from Vanderbilt University Medical Center and the University of Michigan has upended some long-standing assumptions about mutations — how often they occur, what causes them and what they do.

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Neural networks probe proteins

May. 9, 2023—A machine learning method based on neural networks outperformed a mutational scanning model at identifying disease-causing mutations in an Alzheimer’s disease protein, suggesting the method could be useful for facilitating therapeutic design.

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Genetics and chronic pain

Apr. 20, 2023—Polygenic risk scores — scores that reflect the influence of common genetic variants — could be used to predict the likelihood of developing chronic overlapping pain conditions and guide biomarker and targeted prevention efforts.

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Research identifies new target that may prevent blood cancer

Apr. 12, 2023—An international coalition of biomedical researchers co-led by Vanderbilt's Alexander Bick, MD, PhD, has determined a new way to measure the growth rate of precancerous clones of blood stem cells that one day could help doctors lower their patients’ risk of blood cancer.

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Inflammation implicated in exfoliation syndrome

Mar. 28, 2023—Computational genetics tools have implicated inflammatory pathways in exfoliation syndrome, the most common cause of secondary glaucoma, which can result in blindness.

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Researchers clarify role of blood cell mutations in disease

Feb. 2, 2023—Vanderbilt researchers have developed a new method to analyze mutations in blood stem cells that can trigger explosive, clonal expansions of abnormal cells.

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