The lack of animal models that mimic human disease impedes the study of many pathologies that still lack treatment beyond symptom relief. This is what has happened so far with PURA syndrome, a rare disorder affecting brain development for which a mouse model has finally been developed. Other times, small and large models exist, but an effective treatment remains elusive, as is the case with Krabbe disease, a fatal disease in children that could be prevented with the advances in gene therapy.
A collaboration of scientists from the NIH Brain Initiative consortium has published eight simultaneous studies in Neuron, Cell, Cell Genomics, Cell Reports and Cell Reports Methods, with the results of the Armamentarium project, a new set of gene therapy tools for the research and treatment of human brain disorders. The methodology, based on genetic techniques, RNA detection, genomic enhancers and viral vectors, is designed to access different CNS cell types, neuronal and non-neuronal cells, with common and reproducible protocols now available for any laboratory.
Glioblastoma (GBM) is an aggressive cancer from the CNS usually characterized by a very bad prognosis. It is known that around 30%-35% of patients with GBM develop epilepsy as a comorbidity of the disease.
Being able to detect and monitor the aggregation of α-synuclein in situ could lead to more objective, earlier diagnosis of Parkinson’s disease as well as allow real-time monitoring of whether patients are responding to treatment.
Down syndrome (DS) is the most prevalent genetic cause of Alzheimer’s disease (AD). Previous evidence suggests that increased dosage of the amyloid precursor protein (APP) gene plays a crucial role in AD in individuals with Down syndrome (DS-AD), making APP expression a crucial therapeutic target.
Huidagene Therapeutics Co. Ltd. has presented data for HG-303, a new CRISPR-hfCas12Max-based therapeutic approach that knocks down ATXN2 expression for the treatment of amyotrophic lateral sclerosis (ALS).
Since the development of the base and prime editing technique by David Liu at the Broad Institute, their applications in biomedicine have continued to grow, reaching 17 clinical trials for base editing and one clinical assay for prime editing. The 28th Annual Meeting of the American Society of Gene & Cell Therapy (ASGCT) marked a historic milestone this year by presenting the first case of treatment with base editors of a baby with a deadly metabolic disease.
It is far easier and safer to inject drugs into veins than directly into the brain, yet it is extremely difficult for systemically delivered drugs to cross the blood-brain barrier and achieve therapeutic concentrations there.
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