Yara Agbaria

MSc student at Prof. Miguel Weil's laboratory

Research title
Drug screening for inhibitors of in vitro polyalanine repeats aggregation as basis for potential therapy of congenital central hypoventilation syndrome (CCHS).

Research project

Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system, and it is associated with mutations of the PHOX2B gene. The most frequent mutations found in CCHS patients are heterozygous in-frame duplications within a 20 alanine stretch, leading to expansions from+5 to+13 alanine residues, whereas correlation length of alanine expanded stretches and phenotype severity has already been reported in CCHS patients.in my project, I aim to find candidates that block the aggregative properties of poly-Ala PHOX2A using an in vitro-cell free system, with a new approach for high throughput screening (never accomplished for CCHS) using an FDA approved library as first attempt .


Research Categories: Cell research, Molecular biology, Neurodegenerative disease, Personalized medicine