Advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases.
Genetic investigations of people with impaired development of spoken language provide windows into key aspects of human biology. Over 15 years after FOXP2 was identified, most speech and language impairments remain unexplained at the molecular level.
We present and characterize a robust method for rapid, scarless introduction or correction of disease-associated variants in hPSCs using CRISPR/Cas9. Utilizing non-integrated plasmid vectors that express a puromycin N-acetyl-transferase (PAC) gene, whose expression and translation is linked to that of Cas9, we transiently select for cells based on their early levels of Cas9 protein.
Children use the presence of familiar objects with known names to identify the correct referents of novel words. In natural environments, objects vary widely in salience. The presence of familiar objects may sometimes hinder rather than help word learning.
Although folding a piece of paper might seem simple for adults, it requires a complex integration of skills that might be difficult for children.
Early diagnosis of speech disorders in children with cerebral palsy (CP) is of critical importance. A key problem is differentiating those with borderline or mild speech motor deficits from those who are within an age appropriate range of variability.
Individuals who have experienced chronic and high levels of stress during their childhoods are at increased risk for a wide range of behavioral problems, yet the neurobiological mechanisms underlying this association are poorly understood.
The aberrant accumulation of toxic protein aggregates is a key feature of many neurodegenerative diseases, including Huntington’s disease, amyotrophic lateral sclerosis and Alzheimer’s disease. As such, improving normal proteostatic mechanisms is an active target for biomedical research.
Individuals with phenylketonuria (PKU) have a risk of cognitive impairment and inflammation. Many follow a low-phenylalanine (low-Phe) diet devoid of animal protein in combination with medical foods (MFs).
A single injection of antisense oligonucleotides into the lateral ventricle of adult mice leads to nearly complete elimination of GFAP throughout the CNS (GFAP quantitation by ELISA).
The thalamus is a key sensorimotor relay area that is implicated in autism spectrum disorder (ASD). However, it is unknown how the thalamus and white-matter structures that contain thalamo-cortical fiber connections (e.g., the internal capsule) develop from childhood into adulthood and whether this microstructure relates to basic motor challenges in ASD.
