A High throughput Organoid Platform for drug discovEry (HOPE) for rare genetic brain disorders: FOXP1 syndrome as a use case. In the HOPE project, researchers aim to establish an organoid (mini-organ) platform to study rare diseases using patient cells, with the FOXP1 syndrome as a model.
Our main goal is to develop an AON-based therapy for SCA1 patients. In a multidisciplinary consortium consisting of committed patients and families, clinicians, biomedical scientists, and a biotechnology company we will validate the lead molecule, perform toxicology studies, and conduct a natural history and biomarker discovery study to determine the best read-out parameters for the phase 1 clinical trial, conducted within this project.
Sargenti Research grant. A translational project regarding a novel variant in APP with a new disease phenotype and unknown disease mechanism. This is a multidisciplinary and interdepartmental study where the patient was identified at the outpatient KG clinic of the LUMC and molecular and cell biological studies on the possible underlying disease mechanism were performed at the NeuroD group in close collaboration with CCB.
In this project, we will develop novel allele-specific RNA targeting strategies for spinocerebellar ataxia type1 (SCA1). Unlike prior therapies, these strategies aim to specifically address the disease-causing mutant ataxin-1 protein, avoiding effects on the wildtype protein. Since delivering compounds to the brain is a significant challenge in RNA targeting therapies, we will also focus on innovative methods for delivering therapeutic modalities into the brain. The delivery component is carried out in collaboration with prof. Zuhorn of the University Medical Center Groningen (UMCG).
EFFeCT brings together experts from nine countries, spanning academia, industry, and non-profit organizations to train the next generation of scientists. The program aims to provide 12 predoctoral researchers with the skills and knowledge required to advance antisense nucleic acid therapeutics, offering a broader context of drug development, from the initial research phases to clinical application.