Publications by authors named "G A Heiman"
Article Synopsis
- Tourette disorder (TD) affects 1 in 160 children, but understanding is limited due to inadequate animal models that replicate the condition's characteristics and behaviors.
- Using CRISPR/Cas9 gene editing, researchers created mouse models with mutations similar to those found in humans with TD, revealing traits like cognitive deficits, sensorimotor gating issues, and increased repetitive behaviors, particularly in females.
- Treatment with aripiprazole improved certain behaviors, while unsupervised machine learning highlighted distinct movement patterns; findings suggest that while the mice display key TD traits, the effects can differ based on sex.
Article Synopsis
- Tourette disorder (TD) affects 1 in 160 children, but understanding is limited due to inadequate animal models; researchers used CRISPR/Cas9 to create mice with mutations similar to human TD genes.
- The generated mice displayed behaviors like cognitive issues and sensorimotor gating deficits, with these traits being more pronounced in females, despite TD being more common in males.
- The findings suggest that TD-like behaviors in these mouse models are influenced by sex and can be treated with aripiprazole, highlighting the potential for these models in future research on TD.
Article Synopsis
- Autism spectrum disorder (ASD), Tourette syndrome (TS), and ADHD show a significant male bias, influenced by genetic and biological factors.
- Researchers analyzed chromosome X for rare genetic variations using whole exome sequencing in ASD cases, focusing on maternal inheritance.
- A new high-confidence risk gene for ASD (MAGEC3) was identified, and similar genetic variations contributing to vulnerability were found in males with TS and ADHD, enhancing understanding of the genetic basis of these disorders.
Article Synopsis
- Tourette syndrome (TS) is a neurodevelopmental disorder that typically begins in childhood, characterized by persistent motor and vocal tics lasting over a year.
- A genome-wide meta-analysis was conducted with a total of 6,133 TS individuals and 13,565 controls, revealing a significant genetic locus on chromosome 5q15 linked to the NR2F1 gene.
- The study found connections between genetic markers and brain tissue, particularly implicating brain volume differences in areas such as the thalamus and putamen, paving the way for further research into TS neurobiology.
Objectives: To ascertain the rate of unexpected findings on carrier screening (CS) and assess whether implications are disclosed to patients.
Methods: We performed a retrospective observational study of subjects who had CS after pre-test counseling from a licensed genetic counselor at a large tertiary care center. We quantified the rate of unexpected finding on CS, defined as manifesting carriers (MCs), genotypes predicting phenotype, and chromosome abnormalities.