Medical Sciences Commons^™

The Ccu Disease Hunters: Putting Undergraduate Research To Work To Improve Community Health And Training The Next Generation Of Doctors, Paul E. Richardson

Journal of the South Carolina Academy of Science

No abstract provided.

Table Of Contents

Journal of the South Carolina Academy of Science

No abstract provided.

Science In Service Of Society: My Journey In Immunology And Public Engagement, Prakash Nagarkatti

Journal of the South Carolina Academy of Science

No abstract provided.

Restoration Of Neural-Based Function: Collaborative, Multidisciplinary Research To Develop Neurorehabilitation Knowledge, Measures, And Tools To Improve Function In The Real World, Steven A. Kautz

Journal of the South Carolina Academy of Science

No abstract provided.

Implementation Of Self-Directed Learning In Preclinical Respiratory Course, Tai Metzger, Kaycee L. Fillmore, Inaya Hajj-Hussein, Dwayne Baxa, Kyeorda Kemp, Virginia Uhley, Claudio Cortes

Posters

Self-directed learning (SDL) is essential to incorporate into the medical curriculum to develop lifelong learning skills. The Liaison Committee on Medical Education (LCME) defines four specific components of SDL that must be incorporated into medical education. We created an team-based SDL activity and evaluated whether this format aligned with the SDL components defined by the LCME, using students’ evaluations and reflections.

Pharmacogenomic-Guided Prescribing And Polypharmacy Across Age Groups In Obsessive-Compulsive Disorder: A Retrospective Study, Sheldon R Garrison, Matthew W Boyer, Anthony W Zoghbi, Rachel A Schwartz, Nicolette Weisensel, Martin E Franklin, Madeline M Hartig, Maharaj Singh, Sreya Vadapalli

Faculty, Staff and Students Publications

Background: This study evaluated medication utilization in children, adolescents, and adults with obsessive-compulsive disorder (OCD), a chronic psychiatric condition characterized by intrusive thoughts and repetitive behaviors. Although first-line treatments include selective serotonin reuptake inhibitors (SSRIs) and cognitive behavioral therapy (CBT), the heterogeneous biological underpinnings contribute to suboptimal outcomes, with 40-60% of individuals not responding to SSRIs. This complex phenotype often leads to psychotropic polypharmacy, which may be mitigated by incorporating combinatorial pharmacogenomic (PGx) testing into protocol-based care to identify potential gene-drug interactions.

Methods: A retrospective review was conducted of individuals with OCD aged 8 to 65 years who received either …

Comparative Behavioral Impacts Of Neuroactive Pharmaceuticals On Crayfish Locomotion, Grace Elizabeth Smith

Masters Theses

Pharmaceuticals are increasingly recognized as contaminants of concern in aquatic ecosystems, often entering waterways due to incomplete removal by wastewater treatment plants. Despite frequent detection, the effects of these compounds on non-target, neurochemically sensitive organisms such as crayfish remains underexplored. Gabapentin, an anticonvulsant that binds to presynaptic voltage-gated calcium channels and reduces excitatory neurotransmitter release, is one such emerging contaminant. Given crayfish’s ecological importance and sensitivity to neuroactive substances, exposure to gabapentin may disrupt key behaviors such as locomotion. To place gabapentin’s effects in context, we also examined escitalopram (Lexapro), a selective serotonin reuptake inhibitor that elevates synaptic 5-HT, and …

The Effects Of Blue Light From Technology On Sleep Health In Adolescents And Young Adults: A Literature Review, Matthew F. Dilloian, Dianne Langford Ph.D., Charalampos Papachristou Ph.D.

Rowan-Virtua Research Day

Background: Digital screens, such as smartphones, computers, and tablets, emit blue light in the short wavelength range of ~400–500 nm. This exposure impacts the suprachiasmatic nucleus, the brain's biological clock, which regulates the sleep-wake cycle via melatonin secretion from the pineal gland. Blue light is known to suppress melatonin, potentially leading to poor sleep quality and sleep disruptions. Significance: With approximately 90% of Americans using electronic devices within one hour of bedtime, understanding these effects is critical for public health. Previous research often excluded young adults, specific target populations, like athletes, or focused solely on the biochemistry of blue …

The Neurobiology Of Interruptions In Emergency Medicine: The Case For Informed Interruption Management In Support Of Cognitive Stability In High-Reliability Clinical Environments, James Espinosa, Henry Schuitema, Alan Lucerna

Rowan-Virtua Research Day

Background: Interruptions are ubiquitous in Emergency Departments (EDs) and have been associated with task delay, multitasking, and increased error risk. While operational and human-factors impacts are well described, the underlying neurocognitive mechanisms remain underexplored. Not all interruptions are avoidable.  However,  interruptions in emergency medicine represent neurocognitive destabilization events that can degrade task representation and increase vulnerability to error during task resumption. Recognizing the neural mechanisms underlying interruptions reframes their management as a systems-level patient safety priority. The aim is not elimination of clinically necessary communication, but thoughtful reduction, prioritization, and design that protects cognitive stability.

Objective: To synthesize cognitive neuroscience …

Procedural Narration As An Important Cognitive Adjunct To Analgesia: Naming And Neurobiologically Grounding An Established Emergency Medicine Practice, James Espinosa, Alan Lucerna

Rowan-Virtua Research Day

Background: Experienced emergency physicians routinely provide real-time verbal guidance during procedures. Although widespread and intuitive, this practice has not been commonly conceptualized within pain neuroscience.

Objective: To name and mechanistically ground procedural narration as a form of cognitive analgesia, and to promote its intentional use and teaching in Emergency Medicine.

Methods: Narrative review integrating predictive coding theory, placebo/nocebo research, affective neuroscience, descending inhibitory pathway literature, and attentional modulation studies.

Results: Procedural narration reduces uncertainty, aligns expectation with sensation, modulates limbic threat processing, engages prefrontal cortical regulation, and supports descending inhibitory control of nociception.

Conclusion: Procedural narration is not a novel …

Impaired Mitochondrial Magnesium Transport Induces Genome-Wide Transcriptional Changes In Hepatic Steatosis, Inflammatory Signaling, And Detoxification Pathways During High-Fat Diet Feeding, Abhishek Shastry, Thiruvelselvan Ponnusamy, Asha Parveen Sakkarai Mohamed, Marianne Assogba, Natarajaseenivasan Kalimuthusamy, Shanmughapriya Santhanam

Rowan-Virtua Research Day

Calcium overload during fatty diet consumption induces oxidative stress and mitochondrial apoptosis. Intramitochondrial magnesium inhibits calcium uptake into mitochondria; therefore, modulating the activity of the mitochondrial magnesium transporter Mrs2 may regulate calcium-induced hepatocellular stress. As previous work demonstrates that liver-specific Mrs2 inhibition increases hepatic lipid deposition, RNA-sequencing was performed to identify potential transcriptional mechanisms for hepatocellular stress.

Mrs2 knockout (Mrs2^KO) mice were generated by crossing male Mrs2^fl/fl mice with liver-specific-Cre transgenic mice. Eight-week-old wild-type (Mrs2^WT) and Mrs2^KO mice were placed on chow or high-fat diet (HFD) for 12 months (n=3/group). Whole liver was collected …

Immediate Nerve And Tendon Transfers After Wide Resection Of A Radial Nerve Malignant Peripheral Nerve Sheath Tumor: A Case Report And Surgical Technique, Joanne Zhou, Sai Shreya Kambham, Andrew Fang, Christopher Frey, Michael Macavoy

Faculty, Staff and Student Publications

The authors have reported on immediate nerve and tendon transfers postresection of a radial nerve-based malignant peripheral nerve sheath tumor in a 15-year-old female with neurofibromatosis. The median nerve branch to flexor carpi radialis was transferred to the posterior interosseous nerve, the median nerve branch to flexor digitorum superficialis was transferred to the nerve to extensor carpi radialis brevis, and the pronator teres tendon was transferred to the extensor carpi radialis brevis tendon, with 3-year outcomes reported. Tumor excision, tendon, and nerve transfer yielded negative margins and remission. Functional wrist/finger extension appeared at 6 months and increased until 3 years …

Anticholinergic Toxicity Presenting As Acute Stroke Mimic: A Case Report, Dean Austin Esma, Kelsey Murray, James Espinosa, Alan Lucerna

Rowan-Virtua Research Day

Anticholinergic toxicity classically presents with a constellation of peripheral and central symptoms including tachycardia, mydriasis, dry skin, urinary retention, and altered mental status. However, central anticholinergic effects can predominate, presenting as isolated delirium without peripheral manifestations. This report presents a case of a 57-year-old woman who developed acute altered mental status and aphasia following cumulative anticholinergic exposure from over-the-counter cold medications, initially triggering a stroke alert

Sleep Architecture And Delirium In Patients With Intracerebral Hemorrhage: A Preliminary Observational Study, Lily Roessler, Kevin Eaise, Jamie Feinour Msn, Crnp, Jennifer Jond Ms, Pa-C, Vanessa Salasky Md, Mikel Shea Ehntholt Md, Bethany C. Young

Rowan-Virtua Research Day

Background: Delirium is common among ICU stroke patients and could possibly be associated with disrupted sleep. However, the relationship between specific sleep characteristics and delirium remains unclear.

Objective: To evaluate the association between sleep architecture and delirium in intracerebral hemorrhage (ICH) patients in the ICU.

Methods: We performed a primary analysis of 14 ICU ICH patients who underwent polysomnography. Sleep variables included total sleep time, sleep efficiency, sleep stages (N1, N2, N3, REM), arousal index, and sleep latency. Delirium was assessed using the Confusion Assessment Method for the ICU (CAM-ICU). Patients were categorized by presence or absence of delirium. Continuous …

Missense Mutations In The Snca Gene: Molecular Mechanisms And Clinical Implications, Pranaya Gade, Nishant Patel, Jamir Pitton Rissardo, Jorge Patino, Ana Fornari-Caprara, Ian Walker

Rowan-Virtua Research Day

The SNCA gene on chromosome 4 encodes the alpha-synuclein (αSyn) protein, which plays a central role in the pathogenesis of synucleinopathies, including Parkinson’s disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA). While αSyn has established roles in synaptic vesicle dynamics and neuronal signaling, alterations in SNCA regulation and sequence contribute to protein misfolding, aggregation, and loss of function. Alterations in secondary and tertiary structure, as well as protein aggregation, affect biochemical interactions, ultimately leading to pathogenesis. This review outlines the molecular architecture of the SNCA gene, including regulatory regions, alternative splicing, and untranslated regions that influence …

Irritability And Related Behavioral Adverse Events Associated With Levetiracetam: A Meta‑Analysis And Meta‑Regression Of Randomized Trials, Ana Leticia Fornari Caprara Md, Daarsh Goradia, Nishant Patel, Jarvish Shah, Pranaya Gade, Jamir Pitton Rissardo Md

Rowan-Virtua Research Day

Background: Levetiracetam is commonly used in epilepsy management but has been associated with irritability‑predominant aggressive behavioral adverse events, including irritability and aggression. Reported risks vary across trials, and the influence of comparator type and outcome definition remains unclear. We aimed to estimate the risk of irritability‑related aggressive behavioral adverse events associated with levetiracetam and to assess whether outcome definition or comparator subgroup modifies this risk. Methods: We searched ClinicalTrials.gov for interventional trials with posted results involving levetiracetam. Studies reporting irritability, aggression, agitation, or related irritability‑driven behaviors in comparisons with placebo or another antiseizure medication were included. Random‑effects Mantel–Haenszel meta‑analyses were …

Efficacy And Safety Of Levetiracetam For Essential Tremor: A Systematic Review And Meta‑Analysis, Jamir Pitton Rissardo, Daarsh Goradia, Nishant Patel, Jarvish Shah, Pranaya Gade, Ana Leticia Fornari Caprara Md

Rowan-Virtua Research Day

Background: Essential tremor (ET) is a common movement disorder with limited therapeutic options. Levetiracetam has been proposed as a potential treatment, but published studies report inconsistent efficacy and safety findings. We performed a meta‑analysis to quantify the efficacy and safety of levetiracetam in patients with essential tremor using pooled effect estimates. Methods: A systematic review of PubMed was performed to identify clinical studies evaluating levetiracetam for ET. Continuous efficacy outcomes were pooled using standardized mean differences (SMD) with inverse‑variance random‑effects models. Binary adverse events were pooled using risk ratios (RR) with Mantel–Haenszel random‑effects models. Heterogeneity was assessed using I2 statistics. …

Efficacy And Safety Of Droxidopa For Neurogenic Orthostatic Hypotension: A Systematic Review And Meta‑Analysis, Jamir Pitton Rissardo, Jarvish Shah, Nishant Patel, Daarsh Goradia, Pranaya Gade, Ana Leticia Fornari Caprara Md

Rowan-Virtua Research Day

Neurogenic orthostatic hypotension (nOH) causes disabling symptoms such as dizziness, impaired daily activities, and increased fall risk. Droxidopa is approved for symptomatic treatment, but individual trials have reported heterogeneous results across outcomes and populations. We aim to evaluate the efficacy of droxidopa on symptoms, functional impact, blood pressure, and safety outcomes in patients with nOH. Methods: We conducted a systematic review and meta‑analysis of randomized controlled trials comparing droxidopa with placebo in nOH. Continuous outcomes were pooled using random‑effects models with standardized mean difference (SMD) for symptom scales and mean difference (MD) for standing systolic blood pressure (SBP). Binary outcomes …

When Venom Isn’T The Only Threat: Roseomonas Mucosa Bacteremia Following A Snake Bite, Cyrus Davati, Kishan Patel, James A. Espinosa Md, Alan Lucerna

Rowan-Virtua Research Day

Snake bites in the ED  overall are rare in the United States. While mortality is low due to modern interventions, the sequelae - including tissue necrosis, digit amputation, and subsequent infection  remain a significant concern.  Here we present the case of a  presumptively non-venomous snakebite, which  was associated with R. mucosa bacteremia.

From Confirmation To Guidance: Making The Case For Intraprocedural Pocus As The Next Developmental Step In Ultrasound-Supported Shoulder Reduction A Conceptual Practice Proposal And Research Agenda, James Espinosa

Rowan-Virtua Research Day

Point-of-care ultrasound (POCUS) is well established for the diagnosis of shoulder dislocation and for the confirmation of successful reduction. However, its role during the reduction maneuver itself remains under-described. This conceptual practice proposal argues that intraprocedural POCUS represents the logical next developmental step in ultrasound-supported shoulder reduction. By introducing real-time visualization of humeral head translation during reduction attempts, clinicians may identify ineffective vectors earlier, adjust technique midstream, and potentially reduce repeated attempts or escalation of procedural sedation. This work does not present outcome data but instead proposes a practical framework, workflow model, and research agenda for intraprocedural implementation. Future study …

The Complex World Of Emergency Department Medication Dosing: Weight Scalars, Dose And Area Under The Curve (Auc) In Medication Dosing--Areas For Future Research, James Espinosa, Alan Lucerna

Rowan-Virtua Research Day

Weight-based dosing is foundational to emergency medicine practice. With modern ED beds capable of automatic patient weighing, inaccuracies in estimated weight have largely diminished. However, medication misalignment persists, particularly in patients at extremes of body weight and in high-stakes clinical contexts such as rapid sequence intubation (RSI), antimicrobial therapy, and anticoagulation. Emerging pharmacokinetic literature emphasizes total drug exposure—represented by the area under the concentration–time curve (AUC)—as a stronger correlate of efficacy and toxicity than single-point serum levels. This review explores where weight precision most likely matters in the ED, examines weight scalars, and reframes dosing decisions through an exposure-centered paradigm. …

When The Clock Stands Still: Clock Time Vs. Experienced Time In The Emergency Department Brief Review: Neurobiology Of Time Perceptiontemporal Distortion As A Marker Of Cognitive Load And Operational Turbulence, James Espinosa, Alan Lucerna

Rowan-Virtua Research Day

Background: Emergency clinicians frequently report that time during ED shifts can feel unusually slow or unusually fast. This shared observation has rarely been examined formally in emergency medicine. Altered time perception has also been described in high demand professions such as aviation, sports, military operations, and emergency response. Individuals often report time dilation during critical events and time compression during highly coordinated performance. These findings suggest that temporal perception reflects underlying neurocognitive responses to environmental demands. Emergency departments share many characteristics with these environments, including rapid decision making, task switching, and intermittent high stakes events.

Objective:  Brief narrative review concerning …

Olfaction And Clinical Cognition In Medicine: An Under-Theorized Sensory Modality In Healthcare, James Espinosa, Alan Lucerna

Rowan-Virtua Research Day

Background: Olfaction is the most evolutionarily ancient sensory modality and retains privileged neuroanatomical connections to limbic and threat-detection systems. Despite its biological significance, olfactory perception is under-discussed in contemporary medical education and academic literature, particularly in healthcare environments.

Objective: To examine olfaction as a low-bandwidth, high-salience diagnostic signal in medicine; to explore its neurobiological foundations; and to analyze its ethical, social, and professional implications within Emergency Medicine and other clinical settings.

Methods: Narrative synthesis of neuroscience, evolutionary biology, volatile organic compound (VOC) research, and clinical observational practice.

Discussion: Olfactory pathways bypass primary thalamic relay and project directly to limbic structures …

The Physics And Biology Of High-Risk Falls: Biomechanical Analysis And Physics Assists In Understanding Why The Threshold For High-Risk Was Lowered To 10 Feet, James Espinosa, Alan Lucerna

Rowan-Virtua Research Day

Background: Recent revisions to the National Guideline for the Field Triage of Injured Patients lowered the high-risk fall threshold from >20 feet  to >10 feet for all ages. Guideline changes are multifactorial and typically reflect epidemiologic registry data, injury severity trends, and systems-level performance feedback. However, biomechanical analysis assists in understanding the importance of the change.

Objective: To demonstrate that a 10-foot fall generates sufficient kinetic energy and deceleration forces to exceed structural tolerance thresholds in multiple human tissues, and to show that fundamental physics independently supports the recent trauma protocol change.

Methods: Application of gravitational motion equations (v = …

Sex Differences In Insulin Resistance And Triglyceride/Hdl-Cholesterol Ratio In Human Subjects, Jiyoon Jung, Lakshman Segar, Christine Whitehair, James Bailey, Ashley Coleman, George Scott

Rowan-Virtua Research Day

Background: Insulin resistance (IR) plays a major role in dyslipidemia and the associated cardiovascular disease risk. To date, it remains unclear as to how IR alters plasma lipid profile in males versus females. The present study is an initial step to determine sex-specific differences in IR and plasma lipid profile using 40 μL of capillary blood. Methods: 19 adults aged 30-64 were recruited from Rowan Medicine-Sewell clinics, with 13 participants (9 males, 4 females) consenting to the study. After collecting 40 μL of capillary blood via finger prick, the samples were analyzed for glucose, triglyceride (TG), and HDL-cholesterol (HDL-C) using …

In School Age Children With Autism Spectrum Disorder, Does Academic Achievement And Social Development Improve In Inclusive Classroom Environments?, Ashley A. Macquaid

Rowan-Virtua Research Day

Autism Spectrum Disorder (ASD) is a developmental disorder characterized by difficulties in social skills, communication, and sensory processing 1. ASD affects approximately 1 in 100 children internationally 2. With the growing prevalence, classroom inclusivity of individuals with autism has emerged as a priority in education. However, current literature presents a range of positive and negative factors without clear indication of effective classroom placement for students' specific needs. This research aims to determine if inclusive classroom environments improve academic achievement and social development for school-age children with ASD. A systematic search on PubMed, Embase, and Cochrane databases yielded studies published between …

Adolescent Opioid Use And Prefrontal Cortex Development - A Systematic Review, Jonathan Perumpail, Liam Kerrick, Shreya Kadi

Rowan-Virtua Research Day

Adolescence represents a critical period of neurodevelopment characterized by ongoing maturation of the prefrontal cortex (PFC), a brain region essential for executive function, impulse control, and behavioral regulation. Exposure to opioids during this vulnerable window may disrupt neural development and lead to long-term consequences. This review synthesizes current preclinical and human evidence examining the effects of adolescent opioid exposure on PFC development. Across rodent models, opioid exposure is associated with impaired synaptogenesis, altered dopaminergic signaling, and dysregulation of the prefrontal-mesolimbic circuits involved in decision making. Human studies showed reduced functional connectivity and white matter changes in those with opioid use …

Feasibility Of 90-Day Follow Up For Patients With Intracerebral Hemorrhage: Early Data From A Neuro Icu Sleep Quality And Delirium Study, Sierra Triolo, Bethany C. Young, Mikel Shea Ehntholt, Anuoluwapo Fadare, Jamie R. Feinour, Jennifer A. Jond, Jonathan Perumpail, Kevin Eaise, Lily Roessler, Shay Lynn Greco, Vanessa Salasky

Rowan-Virtua Research Day

Background. Neuro intensive care unit (ICU) patients often experience sleep deprivation due to serial neurologic assessments, among other factors. Subjective sleep disturbance has been associated with increased delirium risk in patients with intracerebral hemorrhage (ICH).¹ However, relationships between specific sleep features, delirium and subsequent outcomes in neurocritically ill patients have not been studied.¹ Additionally, ICH-related clinical research has not historically been conducted at Virtua Our Lady of Lourdes (VOLOL) Hospital. This study aimed to assess feasibility of obtaining quantitative sleep data, delirium assessments, and 90-day functional outcomes in neurocritical care patients with ICH.

Hypothesis. We hypothesized that 90-day …

Applying User-Centered Design To Develop A Culturally Sensitive, Low-Calorie Meal Plan For Enhancing Dietary Behavioral Control In Masld, Maya Balakrishnan, Paola Martinez, Brett Deng, Ivonne Arguelles, Crystal Arguelles, Terri L Fletcher, Natalia I Heredia, Myriam Ibarra, Anna Christine Rome

Faculty, Staff and Students Publications

Background: Dietary changes are essential for managing metabolic dysfunction-associated steatotic liver disease (MASLD), yet patients often face barriers related to knowledge, skills, cost, time, and cultural fit.

Aims: The purpose of this paper is to report a process for culturally tailoring a dietary intervention and its application to create a calorie-restricted meal plan for Mexican and Central American patients with MASLD. Guided by the Theory of Planned Behavior and user-centered design, we produced a culturally tailored seven-day structured meal plan aligned with dietary guidelines for MASLD and weight loss.

Methods: We conducted a three-phase, mixed-methods process among Mexican/Central American patients …

Large-Scale Genetic Characterization Of Parkinson’S Disease In The African And African Admixed Populations, Fulya Akçimen, Kimberly Paquette, Peter Wild Crea, Kathryn Step, Emily Waldo, Mathew J Koretsky, Paula Saffie-Awad, Charles Achoru, Funmilola Taiwo, Simon Ozomma, Gerald Onwuegbuzie, Marzieh Khani, Spencer Grant, Lukman Owolabi, Chiamaka Okereke, Olajumoke Oshinaike, Emmanuel Iwuozo, Suleyman Can Akerman, Paul Suhwan Lee, Shyngle Oyakhire, Nosakhare Osemwegie, Kensuke Daida, Sani Abubakar, Adedunni Olusanya, Mariam Isayan, Christiane Alvarez, Rami Traurig, Adebimpe Ogunmodede, Sarah Samuel, Mary B Makarious, Fadimatu Sa'ad, Rashidat Olanigan, Kristin Levine, Ewere Marie Ogbimi, Dan Vitale, Francis Odiase, Francis Ojini, Olanike Odeniyi, Zih-Hua Fang, Nkechi Obianozie, Deborah A Hall, Ernest Nwazor, Tao Xie, Francesca Nwaokorie, Mahesh Padmanaban, Paul Nwani, Ejaz A Shamim, Alero Nnama, David Standaert, Morenikeji Komolafe, Marissa Dean, Godwin Osaigbovo, Elizabeth Disbrow, Ismaila Ishola, Ashley Rawls, Frank Imarhiagbe, Shivika Chandra, Cyril Erameh, Vanessa Hinson, Naomi Louie, Ahmed Idowu, J Solle, Scott A Norris, Abdullahi Ibrahim, Camilla Kilbane, Gauthaman Sukumar, Lisa M Shulman, Daniel Ezuduemoih, Julia Staisch, Sarah Breaux, Clifton Dalgard, Erin R Foster, Abiodun Bello, Andrew Ameri, Raquel Real, Erica Ikwenu, Huw R Morris, Roosevelt Anyanwu, Erin Furr Stimming, Kimberley Billingsley, Wemimo Alaofin, Pilar Alvarez Jerez, Osigwe Agabi, Dena G Hernandez, Rufus Akinyemi, Sampath Arepalli, Laksh Malik, Raymond Owolabi, Yakub Nyandaiti, Hampton L Leonard, Kolawole Wahab, Oladunni Abiodun, Carlos F Hernandez, Fatima Abdulai, Hirotaka Iwaki, Soraya Bardien, Christine Klein, John Hardy, Henry Houlden, Kamalini Ghosh Galvelis, Mike A Nalls, Nabila Dahodwala, Whitley Aamodt, Emily Hill, Alberto Espay, Stewart Factor, Chantale Branson, Cornelis Blauwendraat, Andrew B Singleton, Oluwadamilola Ojo, Lana M Chahine, Njideka Okubadejo, Sara Bandres-Ciga

Faculty, Staff and Student Publications

Elucidating the genetic contributions to Parkinson's disease aetiology across diverse ancestries is a critical priority for the development of targeted therapies in a global context. We conducted the largest sequencing characterization of potentially disease-causing, protein-altering and splicing mutations in 710 cases and 11 827 controls from genetically predicted African or African admixed ancestries. We explored copy number variants (CNVs) and runs of homozygosity in prioritized early onset and familial cases. Our study identified rare GBA1 coding variants to be the most frequent mutations among patients with Parkinson's disease, with a frequency of 4% in our case cohort. Of the 18 …