Division of Genetic Medicine and Clinical Pharmacology Archive — Page 2 of 12

Michelle Southard-Smith, PhD, and graduate student Joseph Benthal. (photo by Susan Urmy)
August 6, 2025

Clues offer new hope for treating GI tract disorders

Hirschsprung disease is a congenital disorder that occurs in approximately 1 in 5,000 babies. Caused by a lack of ENS neurons in the muscles of the colon, Hirschsprung disease disrupts gut motility, resulting in bowel obstruction.

July 28, 2025

Large-scale study uncovers 57 genetic hotspots into stuttering origins

The video is produced by the research team to explain the results of the study. Findings from the largest genetic analysis of stuttering are published in Nature Genetics; they point to 48 genes associated with stuttering and highlight neurological pathways of risk.

July 15, 2025

Multidisciplinary study develops tools for new ‘genomics of interorgan communication’

The research characterizes the molecular “cargo” of circulating extracellular vesicles in obesity and links the findings to human genetic approaches to identify potential therapeutic targets for metabolic disease.

(iStock image)
June 23, 2025

Low blood cell counts drive cancer in explosive blood disorder: study

The analysis of genetic sequencing data from more than 34,000 people over a 17-year period by researchers at VUMC was published in eClinicalMedicine.

From left, graduate student Taylor Nagai, Ela Knapik, MD, senior research scientist Dharmendra Choudhary, PhD, and research assistant Cory Guthrie in Knapik’s lab surrounded by tanks of zebrafish, the model organism that drives their research. (photo by Erin O. Smith)
June 12, 2025

Tiny zebrafish aid discovery of rare, fatal genetic disease

The children were born in Turkey with a smaller-than-normal head size, cataracts, severe developmental delay, intellectual disability and epilepsy.

April 2, 2025

New gene discoveries target uterine fibroids

The research is another step toward development of targeted therapies aimed at reducing the incidence and medical burden of this common condition.