The fifth annual AMDA Research Grant (the 2014 Helen Walker Research Grant) was awarded to Dr. Giancarlo Parenti with the Federico II University in Naples, Italy for his Project: “Analysis of Circulating and Tissue Specific microRNAsSmall molecules that help control how genes are expressed in cells. More in Pompe DiseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.”
Despite advances in treatment, Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More remains associated with unmet medical needs. The aim of the project is to address one of these unmet needs by exploring the possibility of using microRNasSmall molecules that help control how genes are expressed in cells. More (miRNAsSmall molecules that help control how genes are expressed in cells. More) as markers of disease progression and therapeutic efficacy.
The project is directed towards the identification of differentially expressed miRNAsSmall molecules that help control how genes are expressed in cells. More as new biomarkersA measurable sign in the body that helps track disease progression or treatment response. More for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More and as tools to follow disease progression and therapeutic efficacy. Dr. Parenti and his group have evaluated the expression of miRNAsSmall molecules that help control how genes are expressed in cells. More in the Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More murine modelA laboratory mouse used to study disease and test treatments before human trials. More by using next generation sequencingAdvanced technology used to quickly analyze genetic material and identify gene changes. More (NGSAdvanced technology used to quickly analyze genetic material and identify gene changes. More), a powerful and innovative tool that allows large-scale analysis of genes and nucleotide sequences. Differentially expressed miRNAsSmall molecules that help control how genes are expressed in cells. More identified by NGSAdvanced technology used to quickly analyze genetic material and identify gene changes. More in the Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More mouse will be validated in cultured cells from patients and in patients’ samples obtained from plasma and tissue repositories. Studies in cultured cells will be performed to identify possible miRNA-targeted therapeutic strategies.
They expect that circulating and tissues-specific differentially expressed miRNAsSmall molecules that help control how genes are expressed in cells. More can provide valuable biomarkersA measurable sign in the body that helps track disease progression or treatment response. More to monitor disease progression and the effects of therapies in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.
This effort has the potential to generate reliable tools that can be used to monitor disease progression and ERT efficacy, and to provide information to optimize therapeutic interventions. The generated data may also provide insight into the mechanisms involved in the pathophysiology of Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More, and into the functional role of miRNAsSmall molecules that help control how genes are expressed in cells. More in the pathogenesis of the disease, possibly leading to the identification of potential therapeutic targets.
Congratulations Dr. Parenti!