Related Experiment Video
Updated: Jun 13, 2026

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder
Published on: September 6, 2024
The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment
Daniele Moratto1, Silvia Giliani, Lucia D Notarangelo
1University of Brescia, Angelo Nocivelli Institute of Molecular Medicine, c/o Spedali Civili, Piazzale Spedali Civili 1, 25123 Brescia, Italy. trotti@bresciaonline.it
Abstract:
Development of patient-tailored prognostic and therapeutic strategies remains a major, yet largely unmet, goal of medicine. Studies performed in patients who carry mutations in the Wiskott-Aldrich syndrome protein (WASP) gene have indicated the feasibility, but also the limitations, of this approach. In this review, we discuss the importance of specific WASP mutations, and their effects on protein expression and function in determining the spectrum of clinical phenotypes associated with WASP defects. The array of currently available and foreseeable therapeutic options is reviewed in this context as a model for other more common genetic disorders.
More Related Videos
Related Concept Videos
Pleiotropy
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenomics: Identification of New Drug Targets
iPS Cell Differentiation
Pedigree Analysis
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...

