Leigh MacMillan

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.

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.

Byndloss selected for Burroughs Wellcome Fund infectious disease award

Vanderbilt’s Mariana Byndloss, DVM, PhD, is one of eight Burroughs Wellcome Fund 2023 Investigators in the Pathogenesis of Infectious Disease.

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

A critical skin enzyme

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

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.

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