Publications by authors named "Nicholas D Burt"
Introduction: Cognitive impairment in people with Parkinson's disease (PD) is associated with balance deficits and fall risk. Despite this, cognition is not routinely assessed by rehabilitation professionals. Establishing associations between specific domains of balance and cognition in PD using practical clinical measures could help inform evaluation and intervention by clinicians.
View Article and Find Full Text PDFNew technologies and large-cohort studies have enabled novel variant discovery and association at unprecedented scale, yet functional characterization of these variants remains paramount to deciphering disease mechanisms. Approaches that facilitate parallelized genome editing of cells of interest or induced pluripotent stem cells (iPSCs) have become critical tools toward this goal. Here, we developed an approach that incorporates libraries of CRISPR-Cas9 guide RNAs (gRNAs) together with inducible Cas9 into a piggyBac (PB) transposon system to engineer dozens to hundreds of genomic variants in parallel against isogenic cellular backgrounds.
View Article and Find Full Text PDFBackground: Non-motor symptoms of Parkinson's disease (PD) such as cognitive impairment are common and decrease patient quality of life and daily functioning. While no pharmacological treatments have effectively alleviated these symptoms to date, non-pharmacological approaches such as cognitive remediation therapy (CRT) and physical exercise have both been shown to improve cognitive function and quality of life in people with PD.
Objective: This study aims to determine the feasibility and impact of remote CRT on cognitive function and quality of life in patients with PD participating in an organized group exercise program.
Article Synopsis
- Autism Spectrum Disorder (ASD) is a genetic neurodevelopmental condition linked to social and communication deficits, with various gene variants contributing to its risk.
- Research found that gene coexpression patterns in human brains align with changes observed in neuron CRISPR experiments, highlighting a connection to synaptic pathways in ASD.
- A notable correlation exists between convergent gene expression, rare genetic variations, and ASD characteristics, suggesting that analyzing coexpression can reveal new genes relevant to the disorder beyond traditional sequencing methods.
Article Synopsis
- Point mutations and structural variants that disrupt MEF2C coding sequences are linked to various neurodevelopmental disorders, but the detailed effects on neurodevelopment and the regulatory mechanisms remain unclear.
- Researchers created an allelic series of human stem cells and neurons with CRISPR-engineered mutations to investigate how these changes affect MEF2C expression, finding notable alterations in gene expressions related to neurodevelopment and synaptic function.
- The study revealed that deleting MEF2C decreases synaptic activity and impacts gene expression significantly, while changes to specific genomic boundaries can buffer against some regulatory disruptions, illustrating the complexity of genetic regulation in neuronal cells.
Chromosome 16p11.2 reciprocal genomic disorder, resulting from recurrent copy-number variants (CNVs), involves intellectual disability, autism spectrum disorder (ASD), and schizophrenia, but the responsible mechanisms are not known. To systemically dissect molecular effects, we performed transcriptome profiling of 350 libraries from six tissues (cortex, cerebellum, striatum, liver, brown fat, and white fat) in mouse models harboring CNVs of the syntenic 7qF3 region, as well as cellular, transcriptional, and single-cell analyses in 54 isogenic neural stem cell, induced neuron, and cerebral organoid models of CRISPR-engineered 16p11.
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