Research Investigations of Cellular Stress in Development and Diseases

Eunice Kennedy Shriver National Institute Of Child Health & Human Development

Investigators

Linked publications, trials & patents

Abstract

We continue to develop laboratory reagents, characterize experimental models, and establish collaborations to address the overall objective of understanding the role of the integrated stress response in human diseases such as CLN3 and MEHMO syndrome. We continue to conduct extensive characterization of the phenotype of individuals with variants in CLN3, and establish a biorepository of corresponding biosamples (CSF, blood, urine) NCT03307304. To date, our study contains the largest cohort of individuals with CLN3-related disorders extensively characterized and prospectively followed with corresponding biosamples collected. We continue to work with family support organizations and pharmaceutical entities in developing additional therapeutic trials for CLN3. Applying the results from and experiences with the CLN3 project, we initiated similar efforts to study MEHMO syndrome. The collaborative MEHMO and eIF2-related pathways research project combines investigation using iPSC and mouse models, as well as data and materials to be collected in a natural history study.