Division of Genetic Medicine

May 18, 2023

New view of mutations informs disease risk, treatment response

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.

By Bill Snyder
May 9, 2023

Neural networks probe proteins

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.

By Leigh MacMillan
April 20, 2023

Genetics and chronic pain

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.

By Bill Snyder
April 12, 2023

Research identifies new target that may prevent blood cancer

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.

By Bill Snyder
March 28, 2023

Inflammation implicated in exfoliation syndrome

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

By Leigh MacMillan
The research team included, from left, Hannah Poisner, Sydney Olson, J. Brett Heimlich, MD, PhD, Ningning Hu, MS, Alyssa Parker, Alexander Bick, MD, PhD, Joseph Van Amburg and Tara Mack.
February 2, 2023

Researchers clarify role of blood cell mutations in disease

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

By Bill Snyder
January 20, 2023

Study reveals new genetic disorder that causes susceptibility to opportunistic infections

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. 
By Bill Snyder
January 12, 2023

Chan Zuckerberg Initiative grant supports single-cell study of rare inherited disease

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.
By Leigh MacMillan
January 12, 2023

VUMC’s Lang, Stover receive genetic counseling awards

Vanderbilt's Katie Lang, MS, CGC, and Samantha (Sam) Stover, MS, CGC, were recently honored at the 2022 Heart of Genetic Counseling Award ceremony.
By Danny Bonvissuto
December 8, 2022

Researchers develop framework for multiancestry genomic studies

Vanderbilt researchers have developed a framework for the analysis of multiancestry, large-scale genomic studies across multiple biobanks.
By Leigh MacMillan
November 17, 2022

Surgery for hereditary breast cancer

Similar rates of bilateral mastectomy in women with inherited mutations in high- and moderate-penetrance genes raises concerns about possible overtreatment of some patients, Vanderbilt researchers report.
By Leigh MacMillan
October 13, 2022

Study to search EHR for undiagnosed genetic diseases

A team at Vanderbilt University Medical Center will explore computational solutions to help address the problem of missed or delayed diagnosis for patients with rare genetic diseases.
By Paul Govern
August 3, 2022

Embryo screening for mental illness questioned

Report finds polygenic embryo screening (PES) does not provide an accurate measure of the risk of developing psychiatric disorders later in life.
By Bill Snyder
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