3 results match your criteria: "MRC Prion Unit at UCL and UCL Institute of Prion Diseases[Affiliation]"
Creation of de novo cryptic splicing for ALS and FTD precision medicine.
Science
October 2024
UCL Queen Square Motor Neuron Disease Centre, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
Article Synopsis
- The study focuses on TDP-REG, a tool designed to take advantage of the specific splicing changes caused by TDP-43 loss of function (TDP-LOF), which is linked to ALS and similar neurodegenerative diseases.
- It utilizes a deep learning algorithm, SpliceNouveau, to create customizable splicing events that enhance protein expression correlated with the disease state, both in lab settings (in vitro) and in living organisms (in vivo).
- TDP-REG allows for targeted editing of genetic sequences, potentially correcting harmful splicing effects and leading to new precision treatment approaches for disorders related to TDP-43.
Alzheimer's disease (AD) is characterized pathologically by amyloid-beta (Aβ) deposition in brain parenchyma and blood vessels (as cerebral amyloid angiopathy (CAA)) and by neurofibrillary tangles of hyperphosphorylated tau. Compelling genetic and biomarker evidence supports Aβ as the root cause of AD. We previously reported human transmission of Aβ pathology and CAA in relatively young adults who had died of iatrogenic Creutzfeldt-Jakob disease (iCJD) after childhood treatment with cadaver-derived pituitary growth hormone (c-hGH) contaminated with both CJD prions and Aβ seeds.
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