Genetics & Genomics

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.

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.

New lab for transplant, other specialized testing launches at Vanderbilt Medical Laboratories

The new Histocompatibility and Immunogenetics Laboratory launched its first phase of testing June 26 and ultimately will fully support clinical testing for the Vanderbilt Transplant Center, the nation’s third busiest transplant center by volume.

(iStock image)

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)

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.

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)

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.

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