Neurosciences Commons^™

Cerebellar Dysfunction In A Mouse Model Of Childhood-Onset Manganese-Induced Dystonia Parkinsonism, Alexander N Rodichkin, Amanda M Brown, Pavani Devabathini, Jennifer L Mcglothan, Si Chen, Ajith Pattammattel, Yong S Chu, Tao Lin, Daniel D Pontow, Karam Abilmouna, Ritishka Kapoor, Sarah E Hardin, Yulia Pushkar, Roy V Sillitoe, Tomás R Guilarte

Duncan NRI Faculty and Staff Publications

Humans with pathogenic variants of the manganese (Mn) transporter gene SLC39A14 exhibit highly elevated brain Mn concentrations and childhood-onset dystonia-parkinsonism. Here we show that Slc39a14-knockout (KO) mice, a preclinical model of the disease with elevated Mn concentrations in the CB, express deficits in physiological tremor implicating cerebellar (CB) dysfunction. Imaging of intracellular Mn in Purkinje cells (PCs) using synchrotron-based X-ray fluorescence microscopy confirmed highly elevated Mn concentrations in the PCs of Slc39a14-KO mice. To determine biological pathways altered in the CB of Slc39a14-KO mice relative to wildtype (WT), we performed RNA sequencing and discovered significant upregulation of pathways and genes …

Ocular Blood Flow And Retinal Vascular Reactivity In Alzheimer’S Disease: A Systematic Review Of Retinal Images, Tori Sayers, Alexa Nichols, Amin Ibrahim, Igor Zwir, Andrew Tsin, Lorena Flores-Hernandez, Gladys E. Maestre, Jesus D. Melgarejo

Research Colloquium

Background: Alzheimer’s disease (AD) is the most common form of dementia and one of the leading causes of disability and death in the United States¹. Research efforts aim to identify pathological changes that may help support earlier detection of AD and lead to more accessible tools for monitoring disease progression². The retina is being explored as a potential non-invasive marker of AD, reflecting the shared embryology and microvasculature features between the retina and the brain. Although research has focused on structural changes in retinal vessel diameters and density, few studies have evaluated functional markers of retinal …

Interlink Between Genomics By Gtex Portal And Gut Microbiome In Autism Spectrum Disorder, Sriya Gullapalli, Nina Mourao, Tori Sayers, Lois Baldado, Megan W. Szobody, Arjun Bellamkonda, Blake C. Martin, Kory D. Punch, Kevin Garcia Valdez, Anesu Karen Murambadoro, Miguel Quintanilla, Bethany Woolman, Kelsey Baker, Bharathi S. Gadad

Research Colloquium

Background: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by repetitive behaviors, social deficits, and highly restrictive sensory patterns which results from aberrant early-life central nervous system functioning. While ASD has been traditionally associated with molecular genetic alterations, emerging evidence underscores the role of environmental elements. In fact, pathologic genetic variations of key regulator genes coupled with environmental factors, such as: advanced maternal age, poor maternal health during pregnancy, gestational diabetes mellitus, and altered gut microbiome and/or secondary environmental challenges to the offspring in early childhood have all been attributed to increased risk of developing ASD. In efforts to …

Wernicke’S Encephalopathy With Classic Triad And Normal Mri In A Young Woman Following Rapid-Sequence Bariatric And Biliary Surgery, Hugo Zamarron, Nina Mourao, Roberto A. Cruz Saldana

Research Colloquium

Background: Wernicke’s encephalopathy is a life-threatening neurological disorder caused by thiamine deficiency, most commonly associated with alcoholism. However, postoperative nutritional deficiencies in young patients undergoing bariatric procedures are increasingly recognized. This case is unique due to the rapid succession of bariatric and cholecystectomy surgeries, development of classic Wernicke’s symptoms with a normal MRI, and diagnostic delay due to overlapping differential diagnoses including intracranial hypotension and myelopathy.

Case Presentation: A 22-year-old woman with class III obesity underwent sleeve gastrectomy in July 2022, followed by significant weight loss and persistent intractable vomiting. Due to suspected gallbladder disease, she underwent a cholecystectomy in …

Corticobasal Syndrome With Mixed Pathology In The Absence Of Grn Mutation: A Clinico-Pathological Case Of Ftld-Tdp With Coexisting Alzheimer’S And Lewy Body Pathology, Hugo Zamarron, David Irwin, Jeffery Phillips, Edward Lee, Matthew Tisdall, Corey Mcmillan

Research Colloquium

Background: Corticobasal syndrome (CBS) is a neurodegenerative disorder characterized by often asymmetric fronto-pariteal and extra-pyramidal features that is traditionally associated with tauopathy, but pathological findings are heterogenous, including other forms of frontotemporal lobar degeneration (FTLD) and mixed pathologies of aging. We present clinical, radiographic, and histopathologic features of asymmetry in a unique patient with CBS and underlying FTLD with TDP-43 pathology (FTLD-TDP), co-occurring with other age-related pathologies.

Case Presentation: A 76-year-old man presented with progressive cognitive and motor dysfunction including asymmetric parkinsonism, left-sided dystonia and rigidity, apraxia, visuospatial impairment, and a subtle social disorder including apathy and social withdrawal. The …

Bilateral Small Vessel Strokes In A Young Male With Coccidioidal Meningitis And Suspected Cns Vasculitis, Hugo Zamarron, Ahsan Ali

Research Colloquium

Background: Cerebral small vessel strokes in young, otherwise healthy adults without traditional vascular risk factors are rare and warrant further investigation. Central nervous system (CNS) vasculitis is an uncommon etiology that may be triggered by infections, including fungal pathogens. This case is notable for a suspected primary CNS vasculitis manifesting as bilateral deep infarcts in the setting of Coccidioidal meningitis. It highlights the importance of considering fungal infections and vasculitis in the differential diagnosis of stroke in younger patients.

Case Presentation: A 32-year-old previously healthy male presented with fever, headache, and was diagnosed with aseptic meningitis. He was later readmitted …

Blue-Shifted Ancyromonad Channelrhodopsins For Multiplex Optogenetics, Elena G Govorunova, Oleg A Sineshchekov, Hai Li, Yueyang Gou, Hongmei Chen, Shuyuan Yang, Yumei Wang, Stephen Mitchell, Alyssa Palmateer, Leonid S Brown, François St-Pierre, Mingshan Xue, John L Spudich

Duncan NRI Faculty and Staff Publications

Light-gated ion channels from protists (channelrhodopsins or ChRs) are optogenetic tools widely used for controlling neurons and cardiomyocytes. Multiplex optogenetic applications require spectrally separated molecules, which are difficult to engineer without disrupting channel function. Scanning numerous sequence databases, we identified three naturally blue-shifted ChRs from ancyromonads. They form a separate branch on the phylogenetic tree and contain residue motifs characteristic of anion ChRs (ACRs). However, only two conduct chloride, whereas the closely related Nutomonas longa homolog generates inward cation currents in mammalian cells under physiological conditions, significantly exceeding those by previously known tools with similar spectral maxima (peak absorption at …

Mitochondrial Methylcytosines As Blood-Based Biomarkers For Alzheimer's Disease Dementia Prognosis, Jordi Gascón-Bayarri, Jose Luis Mosquera, Marta Blanch, Pau Martí, Beatriz Fontal, Carla Trapero, Nuria Rojo, Inma Rico, Jaume Campdelacreu, Cristopher Fowler, Simon M. Laws, Adrià Tort-Merino, Raquel Sanchez-Valle, Joan Bello, Juan Fortea, Alberto Lleó, Courosh Mehanian, Russell H. Swerdlow, Ramón Reñé-Ramírez, Marta Barrachina

Research outputs 2022 to 2026

Alzheimer's Disease Dementia (ADD) prognosis is an unmet medical need. Mitochondrial dysfunction is an early AD etiopathogenic factor. The present study analyzed mitochondrial DNA (mtDNA) methylation patterns in blood samples from patients with mild cognitive impairment (MCI) who progressed to ADD (P), MCI remained stable (NP), and Cognitively Normal (CN) individuals. Differentially methylated sites were identified in the D-loop region in both CN vs. NP and NP vs. P comparisons, even before β-amyloid positivity. A Random Forest model was developed using mtDNA methylation data combined with cognitive and risk factor features. Model's performance was assessed by cross-validation and tested on …

Structural Basis For Mtorc1 Activation On The Lysosomal Membrane, Zhicheng Cui, Alessandra Esposito, Gennaro Napolitano, Andrea Ballabio, James H Hurley

Duncan NRI Faculty and Staff Publications

The mechanistic target of rapamycin complex 1 (mTORC1) integrates growth factor (GF) and nutrient signals to stimulate anabolic processes connected to cell growth and inhibit catabolic processes such as autophagy1,2. GF signalling through the tuberous sclerosis complex regulates the lysosomally localized small GTPase RAS homologue enriched in brain (RHEB)3. Direct binding of RHEB-GTP to the mTOR kinase subunit of mTORC1 allosterically activates the kinase by inducing a large-scale conformational change4. Here we reconstituted mTORC1 activation on membranes by RHEB, RAGs and Ragulator. Cryo-electron microscopy showed that RAPTOR and mTOR interact directly with the membrane. Full engagement of the membrane anchors …

A Single Center Study Of The Symbol Digit Modalities Test As A Screening Tool For Cognitive Impairment In Parkinson’S Disease, Daniyell Thomason, Morganne Manuel, Shannin Moody, Jesus Lovera, Brain Copeland, Deidre Devier

School of Medicine Faculty Publications

Background: Parkinson’s Disease (PD) can include physical signs and possibly cognitive impairment, resulting from the convergence of pathologicalprocesses involving dopaminergic dysfunction, accumulation ofalpha-synuclein, cholinergic deficits, and disruption of otherneurotransmitter systems. We used screening tests to evaluate thecharacteristics of cognitive performance in patients with PD and to assess their validity compared tothe Montreal Cognitive Assessment (MoCA). Methods: This is a natural history study of participants with PD and controls screened for possible cognitive impairment using the MoCA, Symbol Digit Modalities Test (SDMT), and King-Devick (KD). The groups were compared on performance and then factors associated with cognitive performance (age, diagnosis, and …

Developmental Transformations Of Purkinje Cells Tracked By Dna Electrokinetic Mobility, Cheryl Brandenburg, Garrett W Crutcher, Andrea J Romanowski, Sarah G Donofrio, Lita R Duraine, Richard N A Owusu-Mensah, Benjamin H Cooper, Izumi Sugihara, Gene J Blatt, Roy V Sillitoe, Alexandros Poulopoulos

Duncan NRI Faculty and Staff Publications

Brain development begins with neurogenesis in progenitor zones and ends with expansive, intricately-patterned cellular diversity in the adult brain. We took advantage of bioelectric interactions between DNA and embryonic tissue to perform "stereo-tracking," a developmental targeting strategy that differentially labels cells at different depths within progenitor zones. This 3D labeling was achieved by delivery of plasmids with distinct electrokinetic mobilities in utero. We applied stereo-tracking with light sheet imaging in the cerebellum and identified that Purkinje cells follow embryonically committed developmental trajectories, linking distinct progenitor zone subfields to the mature topography of the cerebellar cortex. We additionally identified an unexpected …

Myelin Mapping In Psychosis, Victoria Lynn King

All ETDs from UAB

It is well established that myelin in the central nervous system is an axonal insulator which speeds the conduction velocity of action potentials. However, its role in the cortex has also been shown to support metabolic demands and aid in cortical plasticity. Myelin develops throughout childhood and adolescence from sensorimotor areas to association areas and peaks during adolescence. Importantly, this is the same time that psychosis-spectrum disorders (PSDs) begin to present clinically; thus, given the critical role of myelination in shaping the mature cortex, disruptions in this process – particularly during adolescence – are thought to partially explain the onset …

Identifying The Neurobiological Substrates Of Gulf War Illness, Chloe Lisette Jones

All ETDs from UAB

Gulf War Illness (GWI) affects approximately 30% of veterans who served in the 1991 Persian Gulf War and is characterized by chronic pain and fatigue, as well as cognitive, mood, gastrointestinal, and respiratory symptoms. Animal research has suggested that GWI is caused by a combination of neurotoxicants such as nerve gas, anti-nerve agent pills, and pesticides, though a definitive pathophysiological model has not been established. In this human observational study, 20 veterans with GWI and 20 healthy Gulf War veterans (HV) underwent whole-brain magnetic resonance spectroscopy (MRS) to non-invasively measure several metabolites associated with neuroinflammation. Whole blood was also collected …

Impact Of Alpha-Synuclein Aggregation On Corticostriatal Synaptic Function And Morphology, Charlotte Franziska Brzozowski

All ETDs from UAB

Lewy Body Dementias (LBDs), including Parkinson’s Disease Dementia (PDD) and Dementia with Lewy Bodies (DLB), are defined by α-synuclein (α-syn) accumulation in Lewy Pathology (LP). LP is abundant in cortical layer V intratelencephalic (IT) neurons, a subset of neurons that also degenerate in the pre-supplementary motor area (preSMA) in humans, which is homologous to the secondary motor cortex (M2) in mice, as observed in PD postmortem tissue. IT neuron projections to the striatum are an intrinsic part of the motor basal ganglia circuitry, believed to modulate cognitive aspects of executive motor control, such as updating motor plans. M2 projections to …

Understanding Psychotic Disorders Using Normative Modeling-Derived Individual-Level Brain Structural Abnormalities, Natalie Remiszewski

All ETDs from UAB

Psychosis is an heterogenous condition that occurs in many psychiatric disorders. It has a variable symptom presentation and recent initiatives have suggested that investigating the underlying neurobiology of psychiatric disorders rather than their symptomatology would provide a more accurate picture for diagnosis, prognosis, and treatment. Grey matter has been implicated in the pathophysiology of psychosis and psychotic disorders, though significant natural variation due to age and sex have impeded the distinction of pathologically relevant grey matter abnormalities in psychosis. Additionally, case-control approaches to exploring grey matter abnormalities in psychotic disorders often obscure subtle variation in individuals. Here, we utilize a …

Identifying Functional Regional Changes In Patients With Parkinson’S Disease And Freezing Of Gait, Taylor Robin Davis

All ETDs from UAB

Freezing of gait (FOG) affects anywhere from 20-80% of those with Parkinson’s Disease (PD) with the prevalence increasing with disease severity and length. This detrimental symptom is unpredictable and poorly characterized, which adds to the negative experience of FOG as it is difficult to treat. Using resting-state fMRI (rs-fMRI), we set out to determine the functional changes in those with PD-FOG and map onto regions of the brain where signal power, measured using fractional amplitude of low-frequency fluctuations (fALFF), synchronicity, as measured by regional homogeneity (ReHo), and strength and direction of intra-network connections as measured by static effective connectivity, are …

Understanding The Functional Consequence Of Cul3 Deletion In The Mammalian Brain, Prathibha Sekar

All ETDs from UAB

Polyubiquitination is a post-translational modification which often results in degradation of the ubiquitin-tagged protein. E3 ubiquitin ligases are multi-subunit protein complexes that assist in this ubiquitination process. Multiple genes that play a role in ubiquitination are implicated in autism spectrum disorder, a highly heterogeneous neurodevelopmental disorder. CULLIN3 (CUL3), a scaffolding protein part of the E3 ubiquitin ligase complex, is the product of a high-risk autism gene implicated across multiple large scale sequencing studies of autism patients. Additionally, CUL3 haploinsufficiency is associated with a syndromic disorder called NEDAUS (Neurodevelopmental disorder with or without autism or seizures) characterized by intellectual disability (ID), …

Murder On The Axonal Express: Synucleinopathy Disruption Of 14-3-3 Protein-Protein Interactions Impairs Axonal Trafficking, Frank Sanders Pair

All ETDs from UAB

14-3-3s are a family of proteins highly expressed in the brain. These proteins exert their functions mainly through protein-protein interactions (PPIs) and have thousands of binding partners. 14-3-3s have been shown to be present in pro-teinaceous aggregates of alpha-synuclein (αsyn), a pathological hallmark of synucleinopathies. This includes such diseases as Parkinson’s Disease (PD) and Dementia with Lewy Bodies (DLB). 14-3-3 proteins, particularly the 14-3-3θ isoform, have been shown to be protective in multiple synucleinopathy models. However, reduced soluble levels of 14-3-3s and increased phosphorylation of 14-3-3θ at S232 observed in synucleinopathies like DLB may impair their protec-tive ability, potentially due …

A High-Salt Diet Modulates Renal Afferent Nerve Activity; Potential Role Of The Endothelin System, Jiaxi Shen

All ETDs from UAB

Hypertension is a prevalent disease around the world. Increased blood pressure leads to a higher risk of stroke and coronary heart disease. Diet, lifestyle, and gene regulation are potential causative factors, and salt-sensitive hypertension is one common types of hypertension. In response to a high-salt diet, blood pressure may elevate with increasing risks of cardiovascular disease (CVD). Endothelin-1, which binds to endothelin A (ETA) and B (ETB) receptors, is strongly involved in controlling the blood vessels and sensory nerve signaling pathway between the kidney and the central nervous system during high salt dietary challenge. The function of the ETB receptor …

Amygdala Npy+ Interneurons Are Activated By Aversive Stim-Uli, Patric Perez

All ETDs from UAB

Neuropeptide Y (NPY) serves as a critical endogenous anxiolytic and stress-buffering molecule, yet the temporal and spatial dynamics of NPY+ cells during fear learning re-main unknown. Temporal dynamics can be measured with in vivo calcium imaging tech-niques, which enable real-time monitoring of cell-type-specific neural activity in freely behaving animals. Snapshots of neuronal activation can be measured using c-Fos im-munohistochemistry, thereby providing excellent spatial resolution. Here, I employ cut-ting-edge approaches to characterize the temporal and spatial activation patterns of NPY+ cells in amygdala, a key fear-regulating brain region negatively impacted by aversive events. I first used in vivo fiber photometry, together …

Understanding Visual Memory Encoding And The Effects Of Endurance Exercise In Healthy Adults And People With Temporal Lobe Epilepsy, Brandon Steve Mitchell

All ETDs from UAB

The visual memory encoding (VME) of indoor and outdoor scenes is a complex cognitive process that primarily utilizes the bilateral hippocampi and medial temporal lobe (MTL) structures along the parahippocampal gyrus. Alpha and theta frequency band oscillations are important in the processing of visual information and memory formation, respectively. We completed hree studies investigating the cognitive process of VME in healthy adults and people with temporal lobe epilepsy (pwTLE). The first study was cross-sectional and utilized a functional magnetic resonance imaging (fMRI)-constrained magnetoencephalography (MEG) analysis in healthy adults to explore VME. The fMRI results were used as spatial priors to …

An Analysis Of Gamma-Aminobutyric Acid Levels With Structural And Functional Connectivity In Antipsychotic Medication-Naïve First Episode Psychosis Patients, Genelle Dano Samson

All ETDs from UAB

Schizophrenia is a complex psychiatric disorder characterized by hallucinations, delusions, disorganized thinking, and abnormalities in emotional expression, social interaction, and motivation. Cognitive deficits and alterations in perception are core features of psychosis spectrum disorders, though the neurobiological bases of these impairments are not thoroughly understood. Examination of the structures responsible for cognition, along with how their connectivity and neurochemistry are altered in psychosis, is crucial to understanding and treating schizophrenia. Gamma-aminobutyric acid (GABA) is the primary inhibitory neurotransmitter in the central nervous system and plays a crucial role in the regulation of neuronal activity. Evidence from animal models and postmortem …

Development Of A Patient-Centered Outcome Tool For Blepharospasm: A Stepwise Modified Delphi Study, Brian D Berman, Fares Qeadan, Amanda D Henderson, Andrew R Harrison, Giovanni Defazio, Mark Hallett, Gamze Kilic-Berkmen, Laura Wright, Samantha Pentecost, Paul Reyes, Anna Tingin, Joseph Jankovic, Jane Boyd, Charlene Hudgins, Janet Hieshetter, Joel S Perlmutter, Hyder A Jinnah, Sarah Pirio Richardson

Faculty, Staff and Students Publications

Blepharospasm (BSP) is characterized by excessive orbicularis oculi muscle activity leading to abnormal blinking and involuntary eyelid closure. Botulinum neurotoxin (BoNT) injections are the main treatment for BSP, but they only partially and transiently relieve symptoms, leading to a waxing and waning therapeutic response. A patient-centered outcome (PCO) tool that measures BSP symptoms in a simple and efficient way could inform the development of better treatments. Using a stepwise modified Delphi approach, potential PCO items were first identified using the Dystonia Coalition Database with data from over 200 individuals with BSP who had provided responses to existing clinical assessment scales. …

Computationally Resolved Neuroprogenitor Cell Biomarkers Associate With Human Disorders, Gerarda Cappuccio, William T Choi, Fatih Semerci, Jill A Rosenfeld, Toni Claire Tacorda, Guantong Qi, Anthony W Zoghbi, Yi Zhong, Hu Chen, Pengfei Liu, Zhandong Liu, Mirjana Maletić-Savatić

Duncan NRI Faculty and Staff Publications

Adult hippocampal neurogenesis, the process of generating new neurons, relies on a rare population of neural stem and progenitor cells (NPCs) within the dentate gyrus complex microenvironment. Discovering the specific genes that define these cells is vital yet challenging due to overlapping expression patterns, limiting detection of rare cell populations using traditional approaches. By employing the computational digital sorting algorithm (DSA) that deconvolves complex gene expression data based on pattern recognition, we identified 129 genes enriched in murine NPCs. We validated these genes against published single-cell RNA sequencing (scRNA-seq) data and discovered that 25 human orthologs were known to cause …

Gene Context Drift Identifies Drug Targets To Mitigate Cancer Treatment Resistance, Amir Jassim, Birgit V Nimmervoll, Sabrina Terranova, Erica Nathan, Linda Hu, Jessica T Taylor, Katherine E Masih, Lisa Ruff, Matilde Duarte, Elizabeth Cooper, Gunjan Katyal, Melika Akhbari, Reuben J Gilbertson, Jennifer C Coleman, Joseph S Toker, Colton Terhune, Gabriel Balmus, Stephen P Jackson, Hailong Liu, Tao Jiang, Michael D Taylor, Kui Hua, Jean E Abraham, Mariella G Filbin, Anthony Hill, Anarita Patrizi, Neil Dani, Aviv Regev, Maria K Lehtinen, Richard J Gilbertson

Faculty, Staff and Students Publications

Cancer treatment often fails because combinations of different therapies evoke complex resistance mechanisms that are hard to predict. We introduce REsistance through COntext DRift (RECODR): a computational pipeline that combines co-expression graph networks of single-cell RNA sequencing profiles with a graph-embedding approach to measure changes in gene co-expression context during cancer treatment. RECODR is based on the idea that gene co-expression context, rather than expression level alone, reveals important information about treatment resistance. Analysis of tumors treated in preclinical and clinical trials using RECODR unmasked resistance mechanisms -invisible to existing computational approaches- enabling the design of highly effective combination treatments …

Regulation Of Food Intake By Connexin43 Via Adipocyte-Sensory Neuron Electrical Synapses, Xi Chen, Xing Fang, Hong Zhou, Jieyi Meng, Yang He, Leon G Straub, Andrew Lemoff, Clair Crewe, Shangang Zhao, Yong Xu, Yi Zhu

Duncan NRI Faculty and Staff Publications

Background and objective: Connexin43 (Cx43), encoded by Gja1, forms gap junctions between adjacent cells. In adipose tissue, it is upregulated during adipose beiging while downregulated by high-fat-diet (HFD) feeding. Adipocyte-specific Gja1 overexpression enhances adipose tissue beiging in response to mild cold stress of room temperature. Moreover, those mice display a surprising decrease in food intake, but the mechanism remains unclear. This study investigates how adipocyte Cx43 influences feeding behavior.

Methods: Mice with adipose tissue-specific Gja1 overexpression (Adipoq-Cx43) were fed with HFD. Food intake, weight gain, substrate utilization, and serum lipolysis were assessed. RNA-seq, proteomics, and cytokine measurements were employed to …

Human Adipose Stem Cell-Derived Small Extracellular Vesicles Modulate Glial Cell Response In Aged And Young Tbi Mouse Models, Salma S. Abdelmaboud

USF Tampa Graduate Theses and Dissertations

Traumatic brain injury (TBI) is a leading cause of long-term neurological impairment, with aging significantly increasing vulnerability and worsening outcomes. Older individuals experience greater cognitive and motor deficits after TBI and often show diminished responses to therapeutic interventions. Both aging and TBI independently promote heightened neuroinflammation and cognitive dysfunction, increasing susceptibility to poor recovery. This study investigated the therapeutic potential of small extracellular vesicles (sEVs) derived from human adipose-derived stem cells (hASCs) to promote neurological recovery and modulate neuroinflammation in a mouse model of TBI. Male C57BL/6 mice aged 3, 15, and 20 months underwent controlled cortical impact (CCI) and …

Implementing A Training Resource For Large-Scale Genomic Data Analysis In The All Of Us Researcher Workbench, Jasmine Baker, Erik Stricker, Julie Coleman, Shamika Ketkar, Taotao Tan, Ashley M Butler, Laterrica Williams, Latanya Hammonds-Odie, Debra Murray, Brendan Lee, Kim C Worley, Elizabeth G Atkinson

Duncan NRI Faculty and Staff Publications

A lack of representation in genomic research and limited access to computational training create barriers for many researchers seeking to analyze large-scale genetic datasets. The All of Us Research Program provides an unprecedented opportunity to address these gaps by offering genomic data from a broad range of participants, but its impact depends on equipping researchers with the necessary skills to use it effectively. The All of Us Biomedical Researcher (BR) Scholars Program at Baylor College of Medicine aims to break down these barriers by providing early-career researchers with hands-on training in computational genomics through the All of Us Evenings with …

Neonatal Striatal Volume Is Associated With Infant Anhedonia, Melissa Nevarez-Brewster, Catherine H. Demers, Jessica L. Irwin, Laura M. Glynn, Martin A. Styner, Mercedes Hoeflich Haase, M. Camille Hoffman, Diego A. Pizzagalli, Benjamin L. Hankin, Elysia Poggi Davis

Psychology Faculty Articles and Research

Anhedonia is increasingly recognized as a transdiagnostic risk factor for psychopathology. New evidence demonstrates that anhedonia is present in infancy and early childhood. Structural variability in striatal regions involved in reward processing and pleasure seeking is concurrently linked to anhedonia, yet few studies have examined whether striatal differences presage anhedonia, and none have examined prospective associations before middle childhood. The present study examined whether neuroanatomical markers that confer risk for anhedonia can be detected as early as the neonatal period. Specifically, we tested whether the volume of striatal regions in neonates predicted the emergence of infant anhedonic behaviors at six …

Systematic Review And Evidence Gap Mapping Of Alzheimer's Disease Biomarker Studies In Those With Intellectual And Developmental Disability, Lubnaa B. Abdullah, Ney Alex Alliey, Emma Elizondo, Ney Alliey Rodriguez, Gladys Maestre, James Hall

School of Medicine Publications

There are a relatively small number of investigations into brain aging in those with intellectual and developmental disability (I/DD). This project seeks to (1) characterize the internationally available multi-omics Alzheimer's disease (AD) biomarker studies including those with I/DD, and (2) discuss future research directions. PubMed, Web of Science, and Scopus were searched under the following criteria: cross-sectional or longitudinal AD-omics studies on adults (18 +) with I/DD. 532 studies were identified, 186 studies were evaluated for full-text, 79 studies were excluded, and 117 studies were extracted. Most biological specimens were analyzed in blood, plasma, or serum. Metabolomics, hormonomics, and transcriptomics …