A5033855899- Genetic Associations and Epidemiology
- Bioinformatics and Genomic Networks
- Alzheimer's disease research and treatments
- Williams Syndrome Research
- Functional Brain Connectivity Studies
- Advanced Neuroimaging Techniques and Applications
- Dementia and Cognitive Impairment Research
- Genetic Mapping and Diversity in Plants and Animals
- Advanced MRI Techniques and Applications
- Genetics, Bioinformatics, and Biomedical Research
- Congenital heart defects research
- Neuroinflammation and Neurodegeneration Mechanisms
- Gene expression and cancer classification
- Genetics and Neurodevelopmental Disorders
- Folate and B Vitamins Research
- Mitochondrial Function and Pathology
- Cognitive Abilities and Testing
- Nuclear Receptors and Signaling
- Neuroscience and Music Perception
- Genomic variations and chromosomal abnormalities
- Health, Environment, Cognitive Aging
- Down syndrome and intellectual disability research
- Genomics and Rare Diseases
- MRI in cancer diagnosis
- Genetic and phenotypic traits in livestock
Alkermes (United States)
2023
Vanderbilt University
2003-2019
Novartis (United States)
2017-2018
Vanderbilt University Medical Center
2003-2015
John F. Kennedy Center for the Performing Arts
2011-2015
Center for Human Genetics
2004-2014
Allen Institute for Brain Science
2003
Mitochondrial DNA (mtDNA) variation can affect phenotypic variation; therefore, knowing its distribution within and among individuals is of importance to understanding many human diseases. Intra-individual mtDNA (heteroplasmy) has been generally assumed be random. We used massively parallel sequencing assess heteroplasmy across ten tissues demonstrate that in unrelated there are tissue-specific, recurrent mutations. Certain tissues, notably kidney, liver skeletal muscle, displayed the...
Aims: Blood biomarkers can improve drug development for Alzheimer’s disease (AD) and its treatment. Neuron-derived extracellular vesicles (NDEVs) in plasma offer a minimally invasive platform developing novel that may be used to monitor the diverse pathogenic processes involved AD. However, NDEVs comprise only minor fraction of circulating (EVs). Most published studies have leveraged L1 cell adhesion molecule (L1CAM) NDEV immunocapture. We aimed develop optimize an alternative, highly...
Williams syndrome is a genetic neurodevelopmental disorder with distinctive phenotype, including cognitive-linguistic features, nonsocial anxiety, and strong attraction to music. we preformed functional MRI studies examining brain responses musical other types of stimuli in young adults typically developing controls. In Study 1, the group exhibited unforeseen activations visual cortex stimuli, it was this novel finding that became focus two subsequent studies. Using retinotopy, color...
Williams syndrome (WS) is a rare genetic neurodevelopmental disorder characterized by increased non-social anxiety, sensitivity to sounds and hypersociability. Previous studies have reported contradictory findings with regard regional brain variation in WS, relying on only one type of morphological measure (usually volume) each study. The present study aims contribute this body literature perhaps elucidate some these discrepancies examining concurrent measures cortical thickness, surface...
The emergence of resting-state functional connectivity (rsFC) analysis, which examines temporal correlations low-frequency (<0.1 Hz) blood oxygen level-dependent signal fluctuations between brain regions, has dramatically improved our understanding the architecture typically developing (TD) human brain. This study examined rsFC in Down syndrome (DS) compared with another neurodevelopmental disorder, Williams (WS), and TD. Ten subjects DS, 18 WS, 40 TD each participated a 3-Tesla MRI scan. We...
Summary Variations in the KCNJ6 gene appear to influence both acute and chronic pain phenotypes. G-protein coupled inwardly rectifying potassium (GIRK) channels are effectors determining degree of analgesia experienced upon opioid receptor activation by endogenous exogenous opioids. The impact GIRK-related genetic variation on human responses has received little research attention. We used a tag single nucleotide polymorphism (SNP) approach comprehensively examine pain-related effects KCNJ3...
Three inferior prefrontal regions in the monkey receive afferents from somatosensory cortices: orbitofrontal cortex (OFC), ventral area of principal sulcus, and anterior frontal operculum. To determine whether these areas show responses to tactile stimuli humans, we examined data an ongoing series PET studies processing. Unlike previous work showing activity hedonic (pleasant/unpleasant) sensory stimulation, used had a neutral valence. Our provide evidence for at least two discrete brain...
Individuals with Down Syndrome (DS) are reported to experience early onset of brain aging. However, it is not well understood how pre-existing neurodevelopmental effects versus neurodegenerative processes might be contributing the observed pattern atrophy in younger adults DS. The aims current study were to: (1) confirm previous findings age-related changes DS compared typical development (TD), (2) test for an effect these a second disorder, Williams syndrome (WS), and (3) identify regional...
BackgroundNovel risk variants for late-onset Alzheimer's disease (AD) have been identified and replicated in genome-wide association studies. Recent work has begun to address the relationship between these biomarkers of AD, though results mixed. The aim current study was characterize single marker epistatic genetic effects top candidate Single Nucleotide Polymorphisms (SNPs) relation amyloid deposition. MethodsWe used a combined dataset across ADNI-1 ADNI-2, looked within each separately...
Abstract Background Trait heterogeneity, which exists when a trait has been defined with insufficient specificity such that it is actually two or more distinct traits, implicated as confounding factor in traditional statistical genetics of complex human disease. In the absence detailed phenotypic data collected consistently combination genetic data, unsupervised computational methodologies offer potential for discovering underlying heterogeneity. The performance three methods – Bayesian...
The genetic etiology of late-onset Alzheimer's disease (LOAD) has proven complex, involving clinical and heterogeneity gene-gene interactions. Recent genome wide association studies in LOAD have led to the discovery novel risk
A subset of individuals present at autopsy with the pathologic features Alzheimer's disease having never manifest clinical symptoms. We sought to identify genetic factors that modify relationship between phosphorylated tau (PTau) and dilation lateral inferior ventricles.
Background: While a great deal of work has gone into understanding the relationship between CSF biomarkers, brain atrophy, and disease progression, less attempted to investigate how genetic variation modifies these relationships. The goal this study was two-fold. First, we sought identify high-risk v. low-risk individuals based on their tau Aβ load characterize with regard atrophy in an AD-relevant region interest. Next, variants that modified biomarker classification neurodegeneration....
Abstract Common diseases with a genetic basis are likely to have very complex etiology, in which the mapping between genotype and phenotype is far from straightforward. A new comprehensive statistical computational strategy for identifying missing link has been proposed, emphasizes need address heterogeneity first stage of any analysis gene‐gene interactions second stage. We applied this two‐stage late‐onset Alzheimer disease (LOAD) data, included functional positional candidate genes...