Medical Sciences Commons^™

Surgical Outcomes Of Hidradenitis Suppurativa Excision: Factors Impacting Wound Healing Time, Christina Huang, Scott H. Koeneman, Sherry Yang, Sami Tannour

Department of Surgery Faculty Papers

Hidradenitis suppurativa (HS) can be treated surgically to excise recurrent and recalcitrant regions of disease activity. However, surgical outcomes are highly variable depending on closure method, concomitant medical management and area of excision. In this study, we aim to characterise the healing courses from HS excision in a case series. To reduce operator variability, we opted to conduct a case series from a single surgeon. Surgeries conducted from June 2024-December 2025 by surgeon S.T. were included, and the postoperative course was followed until February 2026. Surgical details and postoperative course for 34 sites of HS across 20 patients were analysed. …

Assessing Hpv And Hpv Vaccine Awareness And Perception Amongst Undergraduate Students, Maura Hawkins

Honors Theses

Human Papillomavirus (HPV) is one of the most common sexually transmitted infections in the United States. Vaccination rates remain low among college-aged students despite an effective vaccine being available. This study investigates HPV and HPV vaccination-related knowledge, beliefs, and perceptions among undergraduate students to inform targeted intervention strategies. Participants included undergraduate students (n = 19) who attended one of three focus groups conducted in April 2025 at the University of South Alabama. Structured interview guides explored HPV knowledge, perceived risk and severity, attitudes towards vaccination, autonomy in health decision-making, trust in health information sources, and preferred educational strategies. Discussions were …

Tumor–Immune Dynamics With Memory And Time Delay: A Fractional-Order Model With Ctla-4 Regulation, Mutaz Mohammad, Mohyeedden Sweidan, Alexander Trounev, Fathalla Rihan

Mathematical Modelling and Numerical Simulation with Applications

This study develops a fractional-order tumor-immune interaction model incorporating Caputo memory effects, delayed immune activation, and CTLA-4 checkpoint regulation. The model describes the coupled dynamics of tumor cells, CD4$^{+}$ T cells, IFN-$\gamma$, and CTLA-4, and extends classical integer-order tumor-immune models by accounting for hereditary immune responses and biologically motivated latency effects. Theoretical properties, including positivity, boundedness, equilibrium structure, and fractional-order stability, are examined to establish the biological and mathematical consistency of the model. The delayed fractional system is then investigated computationally by comparing several numerical methods, including finite difference discretization, Daubechies wavelet collocation, Euler wavelet collocation, and a predictor-corrector scheme. …

Mutation Screening For Confirming Suspected Spinal Muscular Atrophy Using Dried Blood Spotted On In-House Cellulose-Based Cards, Yogik Onky Silvana Wijaya, Farda Tsaqouva Ahza, Annisa Naufal Almaszahra, Mawaddah Ar Rochmah, Dian Kesumapramudya Nurputra

Makara Journal of Science

Early and accurate diagnosis for spinal muscular atrophy (SMA) has gained relevance in an era of emerging therapies to improve patient outcomes. While screening of dried blood spots (DBS) effectively detects deletion-type SMA, non-deletion cases are often missed. Mutation screening from DBS is needed to address this gap. Here, we aimed to evaluate the feasibility of an in-house, cellulose-based card for direct Sanger sequencing for variant hunting, avoiding DNA extraction and offering an alternative to commercial cards. As a proof of concept, sequences obtained from DBSs of 23 healthy individuals were compared with sequences derived from isolated genomic DNA (gDNA). …

Sirt1 And Ifi16 Cooperatively Regulate Hbv Replication Via Epigenetic Modulation And Innate Immune Activation, Zahra Zahid Piracha, Umar Saeed, Neelam Abid, Syed Shahan Gilani, Hafiz Ahmad Bilal Akhtar Chughtai, Areesha Wasti, Muhammad Waseem, Dilber Uzun Ozsahin, Andromeda M. Nauli, Surya M. Nauli

Pharmacy Faculty Articles and Research

Background

Hepatitis B virus (HBV) establishes persistent infection through the formation of a covalently closed circular DNA (cccDNA) minichromosome, which enables immune evasion and sustained viral replication. While SIRT1, IFI16, and STING are known to modulate antiviral pathways, their cooperative role in regulating HBV transcription and host immunity remains poorly defined.

Methods

We investigated the functional interplay between SIRT1, IFI16, and STING using confocal microscopy, chromatin immunoprecipitation (ChIP), gene silencing, and quantitative PCR in HBV-replicating cell models. Interactions with HBV cccDNA and effects on viral transcription and interferon-stimulated gene (ISG) expression were analyzed. Northern blotting and RT-qPCR were used to …

Mapping The Neuroexposome: Integrative Analysis Of Dementia Risk Factors Through Multi-Omics And Environmental Profiling In The Egyptian Population., Mai Ahmed Saadzaghloul Othman

Theses and Dissertations

Background: Dementia represents one of the most pressing public health challenges of the twenty-first century, with the global burden projected to reach 153 million cases by 2050. Egypt, as the most populous Arab nation, faces a corresponding rise in age-related diseases, yet comprehensive data from low- and middle-income countries remain severely limited. The neuroexposome framework, integrating genetic susceptibility, environmental exposures, and metabolic alterations, offers a powerful strategy to characterize the complex interplay between internal and external risk factors for Alzheimer's disease (AD) and Alzheimer's disease Related Dementias (ADRD).

Objectives: This thesis aimed to: (1) examine the distribution of APOE alleles …

Fentanyl Mediated Distortions Of Phasic Dopamine Release Dynamics Encoding Natural Reward And Aversive Processing In The Mammalian Mesolimbic Circuit, Oliver P. Culver Iv

MUSC Theses and Dissertations

Mu opioid receptor (MOR) agonists are recognized to disinhibit tonic dopamine (DA) in the ventral striatum (VS), contributing to opioid addiction and euphoria. However, MOR agonists can also inhibit non-drug reward-seeking, and disrupt conditioned responding to aversive stimuli, a phenomenon not readily explained by tonic DA disinhibition. We hypothesized that this effect could be due in part to disruption of phasic DA responses to conditioned stimuli (CS) which critically shape and maintain behaviors during naturalistic reward and aversive processing. Because MOR effects on CS-evoked phasic DA are largely unexamined, we conducted in vivo fiber photometric recordings in water-deprived male and …

Epstein–Barr Virus Common And Rare Complications In Iraq: Review Paper, Ameer Mohammed Kadhim, M. Jafar Zainaldeen, Zainab Haider Abdulmajeed

Maaen Journal for Medical Sciences

Background: Epstein–Barr Virus (EBV) is a highly ubiquitous herpesvirus found globally, it is associated to both a wide range of condition including common, pervasive infections and severe, rare diseases. In Iraq, despite a significant increased incident of chronic illnesses and viral- related malignancies, the local overview of EBV-associated complications remains fragmented. Aim: This review synthesizes the current available Iraqi literature to delineate the dual nature of EBV’s impact, distinguishing between common epidemiological manifestations and its role in severe clinical complications in local cohorts. Key Findings: high seroprevalence (~80%) of EBV in healthy Iraqi population, with noteworthy association observed in autoimmune …

Parkinson’S Disease Phenotype Stratification Using Multiple Correspondence Analysis, Kelly Astudillo

Dissertations, Theses, and Capstone Projects

Parkinson’s disease (PD) is the second most common neurodegenerative disorder, with over 12 million people projected to be affected by 2040 (Dorsey et al., 2018). Deep phenotyping and stratification can provide useful information regarding PD pathogenesis and can aid in the  development of disease modifying therapies that aim to delay the progression or prevent the onset of neurodegeneration (Blandini et al., 2019; Smith & Schapira, 2022). Utilizing multivariate methods such as multiple correspondence analysis (MCA) permits for the simultaneous analysis of distinct data modalities. To the best of our knowledge, MCA has not been previously used to explore phenotype patterns …

Rocatinlimab As A Novel Treatment Strategy For Atopic Dermatitis, Haylee Whyde, Evan Blazek, Macy Davis, Parker George, Alex Lowery, Connor Dains, Brenna Hissong, David Koh

Pharmacy and Wellness Review

Atopic dermatitis is a common chronic inflammatory skin disease that affects millions of children and adults in the United States. Atopic dermatitis is characterized by recurrent pruritus, erythema, and relapsing symptoms that can significantly impair quality of life. The pathophysiology of atopic dermatitis involves epidermal barrier dysfunction, immune dysregulation, and genetic susceptibility. Atopic dermatitis guidelines follow a stepwise approach that begins with a severity assessment, trigger avoidance, and nonpharmacologic and pharmacologic treatments. First-line therapies include topical corticosteroids (TCSs), topical calcineurin inhibitors (TCIs), and emollients. Crisaborole and topical ruxolitinib are used for mild-to-moderate disease when prior therapy has been inadequate. Monoclonal …

Fda Approval Of Tradipitant: A Novel Approach To Motion Sickness Treatment, Haley Brown, Jennifer Cao, Allie Honigford, Leah Heitkamp, Sarah Hiett, Connor Dains, Brenna Hissong, Manoranjan D'Souza

Pharmacy and Wellness Review

Motion sickness is a prevalent neurophysiological condition affecting approximately one-third of the worldwide population, resulting from sensory mismatch and the brain’s internal model of motion. It is characterized by nausea, vomiting, dizziness, and autonomic symptoms during exposure to actual or virtual motion, which may significantly impair daily functioning and quality of life. Current guidelines recommend the prevention and treatment of motion sickness through pharmacologic, herbal, and non-pharmacologic strategies. Scopolamine and first-generation antihistamines are effective pharmacologic options, while ginger has demonstrated some benefit in reducing symptoms as an herbal option. Non-pharmacologic interventions such as habituation training, behavioral techniques, and sensory strategies …

Evaluating The Market Withdrawal Of Andexanet Alfa, Jordyn Linfield, Addisyn Cooper, Alexander Defranco, Emma Gerding, Jessica Kelley, Tyler Henney, Connor Dains, Brenna Hissong, Brittany Bates

Pharmacy and Wellness Review

The coagulation cascade comprises intrinsic, extrinsic, and common pathways that converge when thrombin converts fibrinogen (factor I) into fibrin, leading to fibrin mesh formation, stabilization of the platelet plug, and ultimately thrombus formation. Inhibition of the coagulation cascade can be achieved with a variety of anticoagulant medications, including direct oral anticoagulants (DOACs). The mechanism of action of DOACs is to inhibit either factor Xa or thrombin. Reversal of anticoagulation remains an important clinical consideration when managing patients on DOACs who experience serious bleeding events. Andexanet alfa is a recombinant, modified human factor Xa protein previously indicated for patients receiving rivaroxaban …

Fda Approval Of Etripamil For The Treatment Of Paroxysmal Supraventricular Tachycardia, Kiley Devoll, Daniella Egbujor, Katy Grainger, Katherine Cook, Victoria Niese, Connor Dains, Brenna Hissong, Andrew Roecker

Pharmacy and Wellness Review

Paroxysmal supraventricular tachycardia (PSVT) is characterized by sudden, brief, intermittent episodes that result in a heart rate of 150 to 250 beats per minute (bpm). PSVT is difficult to diagnose, making proper treatment challenging. According to the 2015 American Heart Association (AHA)/American College of Cardiology (ACC)/Heart Rhythm Society (HRS) guidelines, current pharmacologic recommendations for PSVT include adenosine, verapamil, diltiazem, or nonpharmacologic vagal maneuvers.¹ These treatments each have a variety of adverse effects, contraindications, and dosing considerations, which highlight a need for novel therapies for the acute treatment and maintenance of PSVT.¹ The NODE-301 trial assessed the safety and …

Identifying Modulators Of Stable Klrg1+Il7ra+ Memory Cd8+ T-Cells, Christina Ocampo Valdez

Honors Projects

Type 1 diabetes (T1D) is an autoimmune disease targeting the insulin-producing beta cells of the pancreas. The discovery of insulin revolutionized the treatment of T1D, but current research into T1D has progressed from disease management to possible prevention or delayed onset of diagnosis. One drug currently in use is teplizumab, an anti-CD3 monoclonal antibody that has been shown to delay the onset of T1D in some, but not all, at-risk individuals. High levels of a subset of peripheral blood CD8+ T cells we call SKIMs (stable KLRG1+ IL7Ra+ memory cells), which include MAIT (mucosal-associated invariant T) cells, have been associated …

Malnutrition At The Time Of Surgery Predicts Increased Morbidity After Distal Femur Fracture Fixation: A Propensity-Matched Analysis, Jawad Saad, Amir Ghafarian, Tyler Forbes, Muaaz Wajath, Noor Saad, Khaled Saleh

Medical Student Research Symposium

Abstract

Background: Distal femur fractures (DFF) are serious injuries most often affecting older adults with multiple medical comorbidities. Malnutrition is known to worsen outcomes in elective orthopedic surgery, but its impact in urgent DFF fixation, where optimization time is limited, remains unclear. This study evaluated whether preoperative malnutrition predicts 90-day morbidity after DFF fixation and whether implant choice influences risk among malnourished patients.

Methods: Adults undergoing operative DFF fixation from 2005–2025 were identified using the TriNetX U.S. Collaborative Network. Malnutrition was defined as serum albumin ≤3.5 g/dL or leukocyte count ≤1.5×10³/µL within one year preoperatively. After 1:1 propensity matching for …

Rhythms Of Hippocampal Function And Memory After Moderate Prenatal Alcohol Exposure, Lilliana May Sanchez

Psychology ETDs

Fetal Alcohol Spectrum Disorders involve morphologic and neurobiological abnormalities in offspring subjected to prenatal alcohol exposure. Although not as well studied as high exposure, moderate prenatal alcohol exposure represents the most common and undetected form in humans. While learning and memory deficits have been well characterized at the behavioral level in humans with Fetal Alcohol Spectrum Disorders and in animal models of moderate prenatal alcohol exposure, few studies have determined the circuit or systems level mechanisms of the behavioral deficits. A complete understanding of the neural bases of memory deficits after moderate prenatal alcohol exposure is needed to ultimately identify …

Developing Antibodies Against Galectin-3 And Galectin-9 To Target Endometriosis, Ashleigh Burger, Noah Farnsworth, Jared J. Reisnouer, Cheyenne Vue

2026 Symposium

Endometriosis is a disease characterized by pelvic pain and the formation of endometrial-like tissue on the outside of the uterine lining. This condition affects nearly 10% of women across the globe and confirming whether someone has endometriosis requires visualization in surgery. While the specific causes of this disease remain unclear, the over-expression of the Galectins 3 and 9 in ectopic endometrial tissues suggests a role in the development and maintenance of the condition. Monoclonal antibodies (mAbs) are highly specific proteins with potential as diagnostic or treatment tools. The goal of this study is to generate antibodies against Gal3 and Gal9. …

Quantifying Black Carbon Concentrations In Georgia And Analyzing Associated Public Health Risks, Khloe R. Osborne

Honors Theses

Quantifying Black Carbon Concentrations in Georgia and Analyzing Associated Public Health Risks

One of the most daunting challenges of the industrial world is air pollution. Within this broad spectrum, there is an inhalable particle group named PM2.5, which contains black carbon. Black carbon has evidence that supports the generation and worsening of adverse health impacts, which may include birth complications, cognitive deficits in children, pulmonary aggravation, asthma, cardiovascular issues, neurological degenerative patterns, and cancer risk. This is especially seen in vulnerable populations, like children, elderly, and those who already suffer from weakened health, many of which reside in the southern …

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 …

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. …

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 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 …

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 …

Targeting The Dorsolateral Prefrontal Cortex With Transcranial Direct Current Stimulation To Improve Depression And Anxiety In Parkinson's Disease, Brock Renicks

Honors Theses

The aim of this study is to observe the outcomes of transcranial direct current stimulation (tDCS) as a treatment for Parkinson’s Disease (PD). This study will primarily look at changes in depression and anxiety, as these symptoms are often comorbid with Parkinson’s Disease. Transcranial direct current stimulation is a non-invasive, very low-intensity form of electrical stimulation of the brain. It is being increasingly used as a form of treatment for Parkinson’s Disease and depression and anxiety, however the literature is ambiguous, showing mixed results throughout various studies, with no standardization of tDCS administration. To determine the effect of tDCS on …

Targeting The Dorsolateral Prefrontal Cortex With Transcranial Direct Current Stimulation To Improve Depression And Anxiety In Parkinson’S Disease, Brock Renicks

Poster Presentations

Around 40% of people with Parkinson’s Disease experience depression and anxiety (Zhao et al, 2025). Depression and Anxiety have been said to be localized to the dorsolateral prefrontal cortex (Brunoni et al, 2016). Transcranial Direct current stimulation (tDCS) has been shown to modulate depression and anxiety by targeting the dorsolateral prefrontal cortex (Sreeraj et al, 2023). It is beneficial due to its cost, portability, and simplicity of use. Thus we will be assessing the efficacy of tDCS in reducing depression and anxiety in individuals with Parkinson’s Disease.

Novel Biomarker Discovery In Multiple Sclerosis, Manisha Gangasani

Honors Theses

Multiple Sclerosis (MS) is a chronic neuroinflammatory disorder affecting the brain, spinal cord, and optic nerve. Patients experience cognitive, motor, autonomic, and emotional symptoms that often overlap with other neurological conditions, making early diagnosis challenging. Current diagnostic criteria require evidence of lesions with dissemination in time and space. Racial disparities in MS outcomes are well documented, with Black individuals often exhibiting greater disease severity, higher relapse rates, and increased disability compared to White individuals. These differences likely reflect a combination of genetic, biological, environmental, and healthcare access factors, underscoring the need to improve early diagnosis and reduce inequities in care. …

Validation Of A Real-Time Pcr Laboratory Developed Test For The Detection Of Pneumocystis Jirovecii In Bronchoalveolar Lavage Samples, Caitlyn Moon

Honors Scholar Theses

Pneumocystis jirovecii is an opportunistic, host-obligate fungal pathogen responsible for causing P. jirovecii pneumonia (PJP) in humans. PJP is treated with trimethoprim-sulfamethoxazole (TMP-SMX), a strong broad-spectrum antibiotic that carries risk of renal and hepatotoxicity. Therefore, rapid diagnosis or exclusion of PJP is crucial to ensure PJP-positive patients receive effective treatment and PJP-negative patients avoid unnecessary antibiotics. Unlike most microorganisms, P. jirovecii cannot be cultured, presenting complications for the typical methods of diagnosing fungal pathogens. Historically, the gold standard for diagnosis was direct microscopic examination with stains such as methenamine silver and calcofluor white, but this diagnostic technique requires highly skilled …

The Development Of A Crispr-Based Calibrated Functional Assay For Classifying Pathogenicity Of Msh2 And Msh6 Variants In Lynch Syndrome, Olivia N. Amodeo

Honors Scholar Theses

Lynch syndrome is a hereditary disease caused by the inheritance of a mismatch repair gene variant. Individuals with this condition are predisposed to cancer development, most commonly colorectal cancer. Current guidelines for variant classification are based on numerous evidence categories, including functional evidence. However, many novel clinical variants are not well characterized, and evidence is difficult to obtain if functional assays are not calibrated.

To address this, our lab created a calibrated functional assay that calculates an odds of pathogenicity score for MSH2 and MSH6 gene variants that can be used as evidence for classifying variants of uncertain significance. This …