Student

Serena Noss

Graduate Student

Adviser: Santhosh Girirajan

Email svn5513@psu.edu

Molecular, Cellular, and Integrative Biosciences IGDP

Researchers have developed a new framework to study the functional impact of genetic background on the expression and severity of neurodevelopmental features associated with a deletion of a portion of chromosome 16. The research team used induced pluripotent stem cells (iPSC) derived from patients with the deletion, their families and a healthy donor that they differentiated into different types of neuronal cells — image shows immunostained iPSC-derived neurons on the left and iPSC-derived neural progenitor cells on the right — to study how interactions among a patient’s entire genetic architecture and the deletion help determine the features that the individual will manifest. Credit: Girirajan Laboratory / Penn State. Creative Commons

May 05, 2026

How can the same genetic mutation lead to different clinical outcomes?

New research helps explain why disease-associated genetic variants can lead to variable clinical outcomes, influenced both by the patterns of secondary variants, or genetic background, and by how cohorts of individuals in a study are ascertained. In a family, shown on left, secondary variants can influence the severity of clinical outcomes, which is indicated by intensity of blue shading, or which features are present between a parent and a child that both carry the primary variant. However, this relationship between secondary and primary variants is different if the primary variant was discovered in a biobank that includes mostly healthy individuals, in the middle, or people identified for a shared clinical feature, on right. Credit: Corrine Smolen/Girirajan Laboratory / Penn State. Creative Commons

October 07, 2025

Background genetic variants influence clinical features in complex disorders

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