Division of Genetic Medicine Archives
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.
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.
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.
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.
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.
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.
Study reveals new genetic disorder that causes susceptibility to opportunistic infections
Jan. 20, 2023—An international consortium co-led by Vanderbilt's Rubén Martínez-Barricarte, PhD, has discovered a new genetic disorder that causes immunodeficiency and profound susceptibility to opportunistic infections including a life-threatening fungal pneumonia.
Chan Zuckerberg Initiative grant supports single-cell study of rare inherited disease
Jan. 12, 2023—A multidisciplinary team led by Vanderbilt University Medical Center investigator Alexander Bick, MD, PhD, has been awarded a $2 million, four-year grant to study inflammation at the single-cell level in the rare disease RUNX1-FPD.
VUMC’s Lang, Stover receive genetic counseling awards
Jan. 12, 2023—Vanderbilt's Katie Lang, MS, CGC, and Samantha (Sam) Stover, MS, CGC, were recently honored at the 2022 Heart of Genetic Counseling Award ceremony.
