Jonathan Mosley

Jill Simmons, MD, and John Shelley found that adding a genetic measure of height to the evaluation of children with short stature might improve diagnosis and clinical outcomes. (photo by Erin O. Smith)
April 25, 2025

Polygenic score for height could improve diagnosis for children with short stature: study

Even after comprehensive testing, about 30% of children with short stature — height below the third percentile on a growth chart — do not have a definitive diagnosis, leading to extended surveillance, testing and anxiety.

By Leigh MacMillan
Photo caption: Jonathan Mosley, MD, PhD, left, Scott Borinstein, MD, PhD, John Shelley, and Vivian Kawai, MD, MPH, are studying how genetic variation not related to disease affects clinical decisions. (photo by Susan Urmy)
June 3, 2024

Genetic variation associated with low white blood cell count impacts clinical decisions

People whose white blood cell levels are near the edge of the “healthy” reference range will hit a clinical decision point that has consequences such as diagnostic procedures and altered treatments.

By Leigh MacMillan
February 1, 2024

A biomarker for early Type 2 diabetes

Genetic analyses suggest that branched chain amino acids may be a sensitive biomarker of early or subclinical Type 2 diabetes and could be used to identify risk and implement preventive measures.

By Bill Snyder
October 31, 2023

Polygenic “scores” may improve cancer screening

Accounting for genetic variability in biomarkers not associated with cancer risk could avoid unnecessary diagnostic procedures, Vanderbilt researchers found.

By Bill Snyder
Research by Mingjian Shi, PhD, left, Jonathan Mosley, MD, PhD, Kerry Schaffer, MD, MSCI, and colleagues found that polygenic risk score does not improve prediction of aggressive prostate cancer.
March 16, 2023

Study evaluates polygenic risk score for prostate cancer risk prediction

A Vanderbilt study found that prostate cancer polygenic risk score has limited utility for enhancing prostate cancer screening.

By Leigh MacMillan
August 11, 2022

Genotype-specific blood counts

Vanderbilt researchers report genotype-specific reference ranges to improve interpretation of laboratory blood results in African Americans with a common gene variant that lowers white blood cell counts.

By Leigh MacMillan
June 16, 2022

BMI genetics influence heart function

Vanderbilt researchers have discovered that a genetic predisposition to elevated body mass index increases the risk of diastolic dysfunction — a cardiac condition that can lead to heart failure.
By Leigh MacMillan
July 22, 2021

For more precise drug treatments, ‘squeeze’ the genome: study finds

Large-scale studies will be required to identify the complexity of genetic variations that affect how patients respond to a given drug and whether they will have side effects, according to researchers at Vanderbilt University Medical Center.
By Bill Snyder
February 27, 2020

Study finds certain genetic test not useful in predicting heart disease risk

A Polygenic Risk Score — a genetic assessment that doctors have hoped could predict coronary heart disease (CHD) in patients — has been found not to be a useful predictive biomarker for disease risk.
By Matt Batcheldor
January 31, 2019

Research bolsters thyroid function, atrial fibrillation link

A study by researchers at Vanderbilt University Medical Center has strengthened the link between thyroid function and atrial fibrillation (AF), an irregular heart rhythm that increases the risk of stroke and other heart-related complications.
By Bill Snyder
October 11, 2018

Team’s study reveals hidden lives of medical biomarkers

What do medical biomarkers do on evenings and weekends, when they might be considered off the clock?
By Paul Govern
February 23, 2017

Researchers chart new informatics path in tracking disease risk

In a study in Circulation: Cardiovascular Genetics, Vanderbilt University’s Jonathan Mosley, M.D., Ph.D., and colleagues use genetic correlation to hitch together two unrelated sets of data, one from a longstanding epidemiological cohort and the other from electronic health records.
By Paul Govern