Leigh MacMillan

June 22, 2023

Mosaicism and genetic disease

Genetic mosaicism — when the body’s cells do not all have the same genetic makeup — could generate variants previously thought to be spontaneous in genetic disease, and detecting parental mosaicism could clarify recurrence risk for future children.

June 8, 2023

Targeting calcium handling in A-fib

The drug ent-verticilide reduced A-fib incidence and duration in an animal model, suggesting it may be a viable therapeutic option.

May 22, 2023

Neurofluid flow and Alzheimer’s disease

Vanderbilt researchers used novel MRI methods to noninvasively quantify measures of neurofluid circulation and found that hypertrophy of a site of cerebrospinal fluid egress may be related to amyloid-beta retention in Alzheimer’s disease.

skin cross section
May 18, 2023

A critical skin enzyme

Detailed studies of the enzymatic properties of PNPLA1 support the requirement for this protein in skin barrier formation.

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.

May 8, 2023

Diabetes drugs associated with fewer adverse cardiac events in older veterans: study

Vanderbilt research finds that GLP1 receptor agonists — a class of diabetes medications — are associated with fewer major adverse cardiovascular events than another type of diabetes drug (DPP4 inhibitors) in older veterans with no prior heart disease.