Best Poster Presentation Award at the National Congress of the Tunisian Association for the Study of Inherited Metabolic Disorders! 🏆

I am pleased to announce that I have been awarded the Best Poster Presentation Award at the National Congress of the Tunisian Association for the Study of Inherited Metabolic Disorders for our work titled “Molecular Diagnosis of Gaucher Disease: A Study of Seven Families.” 🏆

Gaucher disease is an autosomal recessive lysosomal storage disorder caused by mutations in the GBA gene (1q22), leading to a deficiency in β-glucocerebrosidase and resulting in intracellular accumulation of glucocerebroside. Clinically, this metabolic overload manifests as a multisystemic disease classified into three main types: non-neuronopathic type I, acute neuronopathic type II , and subacute neuronopathic type III.

Our study illustrated the phenotypic variability of Gaucher disease and described our department's experience in the molecular diagnosis of Gaucher disease over an 8-year period from 2015 to 2023. This study also emphasized the importance of molecular diagnostics in identifying genetic variations and providing accurate genetic counseling to requesting couples.

I would like to extend my gratitude to the organizing committee and all participants for fostering an engaging and informative environment. I look forward to further contributions in this vital area of research and collaboration with fellow professionals in the field.

#GaucherDisease #InheritedMetabolicDisorders #MedicalGenetics #Research