, EBioMedicine, Volume 59, September 2020
Background: Cholinergic neuronal loss is one of the hallmarks of AD related neurodegeneration; however, preclinical promise of α7 nAChR drugs failed to translate into humans. CHRFAM7A, a uniquely human fusion gene, is a negative regulator of α7 nAChR and was unaccounted for in preclinical models. Methods: Molecular methods: Function of CHRFAM7A alleles was studied in vitro in two disease relevant phenotypic readouts: electrophysiology and Aβ uptake. Genome edited human induced pluripotent stem cells (iPSC) were used as a model system with the human context.
, Neuron, Volume 104, 20 November 2019
Neuropathic pain (NeuP) arises due to injury of the somatosensory nervous system and is both common and disabling, rendering an urgent need for non-addictive, effective new therapies. Given the high evolutionary conservation of pain, investigative approaches from Drosophila mutagenesis to human Mendelian genetics have aided our understanding of the maladaptive plasticity underlying NeuP. Successes include the identification of ion channel variants causing hyper-excitability and the importance of neuro-immune signaling.
, Biomedical Signal Processing and Control, Volume 41, March 2018
Fear of crime, which may be present without experiencing an actual crime, can restrict one's daily physical and mental activities and reduce quality of life. In previous research, fear of crime was measured by regional surveys. Though useful for confirming group characteristics, regional surveys cannot measure in real-time, assess individual characteristics, or provide an objective measure of anxiety.