Andrew C. Berical

A stem cell-based platform for functional analysis of genetic variants in lung disease

This study develops an iPSC-based platform to functionally analyze genetic variants in lung disease, demonstrating its application in diagnosing a variant of uncertain significance in primary ciliary dyskinesia.

Loss of an extensive ciliary connectome induces proteostasis and cell fate switching in a severe motile ciliopathy

The paper identifies cellular defects beyond motility loss in ciliopathies caused by CCDC39/CCDC40 variants, showing proteostasis disruption and cell fate switching.

A multimodal iPSC platform for cystic fibrosis drug testing

This study develops an iPSC platform to test CFTR modulators in cystic fibrosis patients with rare mutations, showing genotype-specific responses to drugs.

Derivation of Airway Basal Stem Cells from Human Pluripotent Stem Cells

This paper reports the derivation of airway basal stem cells from human iPSCs, demonstrating their ability to self-renew and differentiate into airway epithelial cell types, and model lung diseases.