Medicine and Health Sciences Commons^™

To Evaluate Efficiency Of Various Coronary Artery Disease Risk Scores With Traditional Risk Factors In Patients Undergoing Coronary Angiography, Sharma Kamal, Panwar Jasraj, Patel Krutika, Parmar Devratsinh, Kalyani Maulik, Dhorajiya Dixit

Journal of the Saudi Heart Association

Objective:

To analyze and compare various cardiovascular disease risk scores in Western Indian patients undergoing Coronary angiogram (CAG).

Methods:

In this prospective cross-sectional study,1213 patients who underwent conventional coronary angiography; clinical risk profile and biochemical investigations were evaluated prior to undergoing CAG. Apart from the demographic information, 10-year absolute risk of having a major cardiovascular event (cardiovascular death, myocardial infarction or stroke) was calculated for each patient using various available Traditional Risk Scores (TRS). The population was divided in low, intermediate and high-risk categories for each of these scores.

Results:

Traditional cardiovascular risk factors like hypertension (41.8%) and diabetes mellitus-II …

Ultrasound-Guided Vs. Standard Coronary Access In Coronary Angiography: A Systematic Review And Meta-Analysis, Ibrahim Omer, Mohammed Bukhari, Mohammad Alsharif, Abdulrahman Alsamadani, Dinah Alahmadi, Ali Saleh Alsudais, Abdullah Abdulkareem, Hashem Alhashmi Alamir

Journal of the Saudi Heart Association

Objectives: Coronary angiography is a procedure performed during cardiac catheterization to define the coronary anatomy and determine the extent of coronary artery disease (CAD). The use of a cheap, relatively available tool like an ultrasound machine to assist in vascular access might reduce the risks associated with blind access. This study aimed to explore the efficacy and associated complications of ultrasound-guided coronary artery catheterization. Methods: This systematic review of randomized controlled trials (RCTs) was conducted according to the Preferred Reporting Item for Systematic Reviews and Meta-Analysis (PRISMA) and was registered in PROSPERO (CRD42022365518). A systematic search was performed for all …

An Epidemiological Study Of Tinea Corporis In Al-Najaf City, Ahmed Rashad Rasool, Amel Mustafa Kamil, Dhakam Mohammed Abbas

Maaen Journal for Medical Sciences

Background: Dermatophytes are humans' and animals' primary causative agents in charge of cutaneous fungal infections. Understanding the epidemic behavior of dermatophytosis, such as Tinea corporis, which specifically affects the trunk, neck, and extremities, might aid in its prevention. Aim of the study: The study aims to determine the proportion of Tinea corporis and dermatophytosis, the clinical type distribution of dermatophytosis, and participant demographics for Tinea corporis. Method: a cross-sectional study focuses on individuals diagnosed with Tinea corporis in the three general hospitals in Al-Najaf City the study takes place from April 1st to July 31st. all cases with tinea corporis …

Bacterial Isolates Associated With Urinary Tract Infection In Pregnant Women In North Of Thiqar, Iman Neamah Hussein Al Shuwaili, Haydar Khamis Al-Maliky

Maaen Journal for Medical Sciences

Pregnant women are most commonly infected with urinary tract infections (UTIs). Poor maternal and perinatal outcomes can come from it.One hundred and fifty urine samples were collected in a sterile procedure from pregnant women in north Thiqar province. With a duration period from September to December 2023. Several data were recorded from patients such as age, pregnancy duration, occupation and residence. In general they were 40 samples (26.66%) detected as Gram negative bacteria (G-ve) , while 20 samples(13.33%)showed non growth and 90 samples(60%) Gram-positive bacteria, among Gram negative bacteria: (20) isolates (13.33%) were Escherichia coli, (8) isolates (5.34%) were …

Vysion Software, Isaias Hernandez-Dominguez Jr, Chander Luderman Miller

2024 Symposium

Vision loss presents significant challenges in daily life. Existing solutions for blind and visually impaired individuals are often limited in functionality, expensive, or complex to use. Vysion Software addresses this gap by developing a user-friendly, all-in-one AI companion app that provides features including text summarization, real-time audio descriptions, and AI-enhanced navigation. This project details the development plan, initial functionalities, and future vision for Vysion Software.

Interdisciplinary Medication Reconciliation Approach For Arabic-Speaking Patients, Rebecca Rodman

Dissertations

Abstract

Problem: Limited English Proficiency (LEP), which includes Arabic speakers, presents challenges in healthcare and can impact medication reconciliation and adherence. Interdisciplinary collaboration involving patients and interpreters is crucial for improving medication reconciliation and adherence. This project aimed to examine the impact of an interdisciplinary medication reconciliation approach on medication adherence with Arabic-speaking patients ages 18-99 over three months.

Methods: This quality improvement (QI) pilot project utilized a descriptive cohort design. A translated validated Morisky, Green, and Levine (MGL) adherence survey consisting of four questions was administered pre- and post-implementation to a convenience sample of Arabic-speaking patients 18 years …

Implementation Of Chlorhexidine Gluconate Dressings And The Effect On Bloodstream Infections In Extracorporeal Membrane Oxygenation Patients At A Pediatric Hospital, Kaitlin Vernier

Dissertations

Extracorporeal membrane oxygenation (ECMO) is an advanced lifesaving therapy used for patients with significant cardiorespiratory failure not responding to conventional therapies. The most common and life-threatening complications associated with ECMO are blood stream infections (BSIs). In addition to increased mortality, BSI's increase patient length of stay and cost. Chlorhexidine Gluconate (CHG) is known to be a significant factor in BSI reduction. The purpose of this quality improvement project is to assess the utilization of CHG-impregnated dressings on the incidence of BSI rates in pediatric ECMO patients. The setting was a 40-bed pediatric intensive care unit (PICU) and a 30-bed cardiac …

Admission Requirements Among Dental Hygiene Programs: Key Indicators To Student Success, Justin R. Nance

Dental Hygiene ETDs

This descriptive study evaluated both cognitive (academic) and non-cognitive (personal) factors considered in the admission process and their correlation with student retention rates in dental hygiene programs. The research examined admission criteria and student retention rates for students who matriculated in 2021 and 2022, aiming to develop more effective admission criteria that predict student success and retention. A survey consisting of 20 multiple-choice questions was distributed to 327 accredited dental hygiene program directors in order to gather data. The survey achieved a 16% response rate. The results of this study provide insights into how to develop more effective admission criteria …

Wiping Out Central Line Associated-Bloodstream Infections: Cleaning High Touch Surfaces In The Picu, Emily Heth

Dissertations

Problem: Central line-associated bloodstream infections (CLABSIs) are a significant, preventable healthcare-related complication of hospital admission and medical management of critically ill and medically complex patients. CLABSIs result in significant adverse outcomes such as increased morbidity and mortality, prolonged length of stay (LOS) in the intensive care unit (ICU) and in the hospital, increased cost of treatment, and increased rates of readmission. Direct and indirect contact within the patient’s hospital environment are potential means of transmission for microorganisms, increasing the inherent risk of acquiring a CLABSI.

Method: For this quality improvement (QI) project, a pre-post design was utilized to evaluate the …

Histopathology Imaging And Clinical Data Including Remission Status In Pediatric Inflammatory Bowel Disease, Chloe Martin-King, Ali Nael, Louis Ehwerhemuepha, Blake Calvo, Quinn Gates, Jamie Janchoi, Elisa Ornelas, Melissa Perez, Andrea Venderby, John Miklavcic, Peter Chang, Aaron Sassoon, Kenneth Grant

Food Science Faculty Articles and Research

The incidence of inflammatory bowel disease (IBD) is increasing annually. Children with IBD often suffer significant morbidity due to physical and emotional effects of the disease and treatment. Corticosteroids, often a component of therapy, carry undesirable side effects with long term use. Steroid-free remission has become a standard for care-quality improvement. Anticipating therapeutic outcomes is difficult, with treatments often leveraged in a trial-and-error fashion. Artificial intelligence (AI) has demonstrated success in medical imaging classification tasks. Predicting patients who will attain remission will help inform treatment decisions. The provided dataset comprises 951 tissue section scans (167 whole-slides) obtained from 18 pediatric …

Development Of A Simple And Accurate Polymerase Chain Reaction Screen For Human Papillomavirus In College Students, Emily Bishop, Owen Smith, Paul E. Richardson

Journal of the South Carolina Academy of Science

Human Papillomavirus (HPV) is, according to the CDC, the most common sexually transmitted infection (STI) with many infections developing in a person's late teens or early 20’s. HPV is a nonenveloped, relatively small, icosahedral DNA virus that infects squamous epithelial cells. This infection can happen in genital, anal, and oral cavities. 90% of these infections will self-clear in two years according to the CDC. Of the 10% of infections that do not clear in two years, they could develop into carcinomas later in life. The goal of this developmental research is to create a polymerase chain reaction (PCR) that can …

Splenic Artery Embolization In The Treatment Of Blunt Splenic Injury: Single Level 1 Trauma Center Experience, Katelyn Gill, Sarah Aleman, Alexandra H. Fairchild, Bahri Üstünsöz, Dan Laney, Alison A. Smith, Hector Ferral

School of Medicine Faculty Publications

PURPOSE: To describe the experience of a single level 1 trauma center in the management of blunt splenic injuries (BSI). METHODS: This is a retrospective study with Institutional Review Board approval. The medical records of 450 patients with BSI treated between January 2016 and December 2022 were reviewed. Seventy-two patients were treated with splenic artery embolization (SAE), met the study criteria, and were eligible for data analysis. Spleen injuries were graded in accordance with the American Association for the Surgery of Trauma Organ Injury Scale. Univariate data analysis was performed, with P < 0.05 considered statistically significant. RESULTS: The splenic salvage rate was 90.3% (n = 65/72). Baseline demographics were similar between the groups (P > 0.05). Distal embolization with Gelfoam had similar rates …

Find Your Perfect Match For Surgical Residency: Six Steps To Building Your Brandd From The Collaboration Of Surgical Education Fellows, John M. Woodward, Sarah Lund, Riley Brian, Ananya Anand, Rebecca Moreci, Sergio M. Navarro, Jorge Zarate Rodriguez, Ariana Naaseh, Katrina Tate, Joshua Roshal, Caitlin Silvestri, Connie Y. Gan, Tejas Sathe, Steven W. Thornton, Madeline Cloonan, Lauren Weaver, Mary H. Oh, Frederick Godley, Joseph C. L'Huillier

School of Medicine Faculty Publications

No abstract provided.

Dual-Localized Pptc7 Limits Mitophagy Through Proximal And Dynamic Interactions With Bnip3 And Nix, Lianjie Wei, Mehmet Oguz Gok, Jordyn D Svoboda, Keri-Lyn Kozul, Merima Forny, Jonathan R Friedman, Natalie M Niemi

2020-Current year OA Pubs

PPTC7 is a mitochondrial-localized phosphatase that suppresses BNIP3- and NIX-mediated mitophagy, but the mechanisms underlying this regulation remain ill-defined. Here, we demonstrate that loss of PPTC7 upregulates BNIP3 and NIX post-transcriptionally and independent of HIF-1α stabilization. Loss of PPTC7 prolongs the half-life of BNIP3 and NIX while blunting their accumulation in response to proteasomal inhibition, suggesting that PPTC7 promotes the ubiquitin-mediated turnover of BNIP3 and NIX. Consistently, overexpression of PPTC7 limits the accumulation of BNIP3 and NIX protein levels, which requires an intact catalytic motif but is surprisingly independent of its targeting to mitochondria. Consistently, we find that PPTC7 is …

Genome-Wide Analyses Reveal A Potential Role For The Mapt, Mobp, And Apoe Loci In Sporadic Frontotemporal Dementia, Claudia Manzoni, Carlos Cruchaga, Et Al.

2020-Current year OA Pubs

Frontotemporal dementia (FTD) is the second most common cause of early-onset dementia after Alzheimer disease (AD). Efforts in the field mainly focus on familial forms of disease (fFTDs), while studies of the genetic etiology of sporadic FTD (sFTD) have been less common. In the current work, we analyzed 4,685 sFTD cases and 15,308 controls looking for common genetic determinants for sFTD. We found a cluster of variants at the MAPT (rs199443; p = 2.5 × 10

Combination Of Dual Jak/Hdac Inhibitor With Regorafenib Synergistically Reduces Tumor Growth, Metastasis, And Regorafenib-Induced Toxicity In Colorectal Cancer, Prachi Bajpai, Moh'd Khushman, Et Al.

2020-Current year OA Pubs

BACKGROUND: Treatment with regorafenib, a multiple-kinase inhibitor, to manage metastatic colorectal cancers (mCRCs) shows a modest improvement in overall survival but is associated with severe toxicities. Thus, to reduce regorafenib-induced toxicity, we used regorafenib at low concentration along with a dual JAK/HDAC small-molecule inhibitor (JAK/HDACi) to leverage the advantages of both JAK and HDAC inhibition to enhance antitumor activity. The therapeutic efficacy and safety of the combination treatment was evaluated with CRC models.

METHODS: The cytotoxicity of JAK/HDACi, regorafenib, and their combination were tested with normal colonic and CRC cells exhibiting various genetic backgrounds. Kinomic, ATAC-seq, RNA-seq, cell cycle, and …

Modeling Interprofessional Excellence Transforming Medical Education For Collaborative Care, Kerry Miller, Paige Hardy, Neil Kalsi, Nathan Gollehon, Brianna Brei, Jason Burrows, Liliana Bronner

Posters and Presentations: Family Medicine

In our medical school, we designed an innovative interprofessional education (IPE) experience to prepare medical students for collaborative healthcare. Through a family-centered NICU high-risk follow-up clinic, students observed and engaged with a diverse team, including a developmental specialist, neonatal nurse practitioner, physician, and nurse. We developed a rubric based on the four IPEC competencies, evaluating students’ understanding before and after the rotation. Results from 118 participants showed significant improvement (p < .001) across competencies, with large effect sizes (Cohen's d: 1.02 to 2.14). This experience highlights the effectiveness of clinical modeling in enhancing interprofessional practice skills among medical students.

Complications And Health-Related Quality Of Life In Children With Various Etiologies Of Early-Onset Scoliosis Treated With Magnetically Controlled Growing Rods- A Multicenter Study, Pawel Glowka, Pawel Grabala, Munish C Gupta, Daniel E Pereira, Michal Latalski, Anna Danielewicz, Michal Grabala, Marek Tomaszewski, Tomasz Kotwicki

2020-Current year OA Pubs

No abstract provided.

Challenges Of Spatially Resolved Metabolism In Cancer Research, Andrew N. Lane, Richard M. Higashi, Teresa W-M Fan

Markey Cancer Center Faculty Publications

Stable isotope-resolved metabolomics comprises a critical set of technologies that can be applied to a wide variety of systems, from isolated cells to whole organisms, to define metabolic pathway usage and responses to perturbations such as drugs or mutations, as well as providing the basis for flux analysis. As the diversity of stable isotope-enriched compounds is very high, and with newer approaches to multiplexing, the coverage of metabolism is now very extensive. However, as the complexity of the model increases, including more kinds of interacting cell types and interorgan communication, the analytical complexity also increases. Further, as studies move further …

Childhood Sexual Abuse And Compulsive Sexual Behavior Among Men Who Have Sex With Men Newly Diagnosed With Hiv, Monique J. Brown, Medinat Omobola Osinubi, Daniel Amoatika, Mohammad Rifat Haider, Sally Kirklewski, Patrick Wilson, Nathan B. Hansen

Faculty Publications

Childhood sexual abuse (CSA) continues to be a public health challenge. The prevalence of experiencing CSA is higher among men who have sex with men (MSM) than the general population. CSA has been linked to compulsive sexual behavior (CSB) among varying populations but has not been examined among MSM who were newly diagnosed with HIV. Therefore, the aims of this study were to assess the direct association between CSA and CSB among newly diagnosed MSM living with HIV, and to identify the potential mediating roles of depressive symptoms and emotion regulation in the association between CSA and CSB. The study …

A Crisis In Clinical Research, David S Hong, Patricia Lorusso, Mario Sznol

Faculty, Staff and Student Publications

The clinical research pipeline is critical to ensuring continued development of novel treatments that can offer patients with cancer safe and effective options. Unfortunately, progress has slowed since the COVID-19 pandemic due to uncovered, systemic inefficiencies across critical processes. Towards initiating discussion on how to reinvigorate clinical research, the Society for Immunotherapy of Cancer (SITC) hosted a virtual summit that characterized issues and formed potential solutions. This commentary serves to highlight the crisis facing clinical research as well as stimulate field-wide discussion on how to better serve patients into the future.

Parg Is Essential For Polθ-Mediated Dna End-Joining By Removing Repressive Poly-Adp-Ribose Marks, Umeshkumar Vekariya, Leonid Minakhin, Gurushankar Chandramouly, Mrityunjay Tyagi, Tatiana Kent, Katherine Sullivan-Reed, Jessica Atkins, Douglas Ralph, Margaret Nieborowska-Skorska, Anna-Mariya Kukuyan, Hsin-Yao Tang, Richard T. Pomerantz, Tomasz Skorski

Department of Biochemistry and Molecular Biology Faculty Papers

DNA polymerase theta (Polθ)-mediated end-joining (TMEJ) repairs DNA double-strand breaks and confers resistance to genotoxic agents. How Polθ is regulated at the molecular level to exert TMEJ remains poorly characterized. We find that Polθ interacts with and is PARylated by PARP1 in a HPF1- independent manner. PARP1 recruits Polθ to the vicinity of DNA damage via PARylation dependent liquid demixing, however, PARylated Polθ cannot perform TMEJ due to its inability to bind DNA. PARG-mediated de-PARylation of Polθ reactivates its DNA binding and end-joining activities. Consistent with this, PARG is essential for TMEJ and the temporal recruitment of PARG to DNA …

Chronic Eosinophilic Leukemia With A Novel Jak1 Mutation Responds Well To The Jak1/2 Inhibitor Ruxolitinib, Qing Wei, Jie Xu

Faculty, Staff and Student Publications

No abstract provided.

Emerging Biomedical And Clinical Applications Of 3d-Printed Poly(Lactic Acid)-Based Devices And Delivery Systems, Allan John R Barcena, Prashanth Ravi, Suprateek Kundu, Karthik Tappa

Faculty, Staff and Student Publications

Poly(lactic acid) (PLA) is widely used in the field of medicine due to its biocompatibility, versatility, and cost-effectiveness. Three-dimensional (3D) printing or the systematic deposition of PLA in layers has enabled the fabrication of customized scaffolds for various biomedical and clinical applications. In tissue engineering and regenerative medicine, 3D-printed PLA has been mostly used to generate bone tissue scaffolds, typically in combination with different polymers and ceramics. PLA's versatility has also allowed the development of drug-eluting constructs for the controlled release of various agents, such as antibiotics, antivirals, anti-hypertensives, chemotherapeutics, hormones, and vitamins. Additionally, 3D-printed PLA has recently been used …

Implementation Of A Standardized Nursing Handoff In A Pediatric Intensive Care Unit, Tori Keeven

Dissertations

Handoff communication is critical in healthcare and is associated with patient safety outcomes. Various tools and interventions are available to improve handoff communication as inadequate communication contributes to medical errors, patient adverse events, and increased mortality. The implementation of a standardized handoff tool has been shown to be effective. Findings revealed a significant 60% reduction in reported patient harm events, despite the study's limited sample size and lack of statistical significance (p = .614). Challenges such as low utilization (18.62%) were attributed to concerns about tool organization, spatial constraints, and staff resistance to change. Recommendations include refining the tool to …

Emergent Emm4 Group A Streptococcus Evidences A Survival Strategy During Interaction With Immune Effector Cells, Chioma M Odo, Luis A Vega, Piyali Mukherjee, Sruti Debroy, Anthony R Flores, Samuel A Shelburne

Faculty, Staff and Student Publications

The major gram-positive pathogen group A Streptococcus (GAS) is a model organism for studying microbial epidemics as it causes waves of infections. Since 1980, several GAS epidemics have been ascribed to the emergence of clones producing increased amounts of key virulence factors such as streptolysin O (SLO). Herein, we sought to identify mechanisms underlying our recently identified temporal clonal emergence among emm4 GAS, given that emergent strains did not produce augmented levels of virulence factors relative to historic isolates. By creating and analyzing isoallelic strains, we determined that a conserved mutation in a previously undescribed gene encoding a putative carbonic …

Disappearing Dysphagia And The Spontaneous Intraesophageal Hematoma, A Wayne Wheeler, Stephen Landreneau

School of Medicine Faculty Publications

No abstract provided.

A Staff Education Project For Administration Of Phq-9 To Adult Patients In The Emergency Department, Jessica Leigh Ionno

Walden Dissertations and Doctoral Studies

Depression is a global healthcare crisis impacting millions worldwide. In the United States, over 8% of adults experience depression, leading to significant disability and increased healthcare costs. Many individuals with depression seek initial treatment in emergency departments (EDs). This project aims to reduce the burden of depression by training ED nurses to identify at-risk patients early and provide timely interventions and referrals. Benefits include improved patient outcomes, decreased healthcare costs, and social change to address the mental health crisis. Utilizing Malcolm Knowles’ adult learning theory, the project emphasizes collaborative learning relevant to the clinical setting. The partner site is a …

Psmd11 Loss-Of-Function Variants Correlate With A Neurobehavioral Phenotype, Obesity, And Increased Interferon Response, Wallid Deb, Cory Rosenfelt, Virginie Vignard, Jonas Johannes Papendorf, Sophie Möller, Martin Wendlandt, Maja Studencka-Turski, Benjamin Cogné, Thomas Besnard, Léa Ruffier, Bérénice Toutain, Léa Poirier, Silvestre Cuinat, Amy Kritzer, Amy Crunk, Janette Dimonda, Jaime Vengoechea, Sandra Mercier, Lotte Kleinendorst, Mieke M Van Haelst, Linda Zuurbier, Telma Sulem, Hildigunnur Katrínardóttir, Rún Friðriksdóttir, Patrick Sulem, Kari Stefansson, Berglind Jonsdottir, Shimriet Zeidler, Margje Sinnema, Alexander P A Stegmann, Natali Naveh, Cara M Skraban, Christopher Gray, Jill R Murrell, Sedat Isikay, Davut Pehlivan, Daniel G Calame, Jennifer E Posey, Mathilde Nizon, Kirsty Mcwalter, James R Lupski, Bertrand Isidor, François V Bolduc, Stéphane Bézieau, Elke Krüger, Sébastien Küry, Frédéric Ebstein

Faculty, Staff and Students Publications

Primary proteasomopathies have recently emerged as a new class of rare early-onset neurodevelopmental disorders (NDDs) caused by pathogenic variants in the PSMB1, PSMC1, PSMC3, or PSMD12 proteasome genes. Proteasomes are large multi-subunit protein complexes that maintain cellular protein homeostasis by clearing ubiquitin-tagged damaged, misfolded, or unnecessary proteins. In this study, we have identified PSMD11 as an additional proteasome gene in which pathogenic variation is associated with an NDD-causing proteasomopathy. PSMD11 loss-of-function variants caused early-onset syndromic intellectual disability and neurodevelopmental delay with recurrent obesity in 10 unrelated children. Our findings demonstrate that the cognitive impairment observed in these individuals could be …

The Impact Of Clinical Genome Sequencing In A Global Population With Suspected Rare Genetic Disease, Erin Thorpe, Taylor Williams, Chad Shaw, Evgenii Chekalin, Julia Ortega, Keisha Robinson, Jason Button, Marilyn C Jones, Miguel Del Campo, Donald Basel, Julie Mccarrier, Laura Davis Keppen, Erin Royer, Romina Foster-Bonds, Milagros M Duenas-Roque, Nora Urraca, Kerri Bosfield, Chester W Brown, Holly Lydigsen, Henry J Mroczkowski, Jewell Ward, Fabio Sirchia, Elisa Giorgio, Keith Vaux, Hildegard Peña Salguero, Aimé Lumaka, Gerrye Mubungu, Prince Makay, Mamy Ngole, Prosper Tshilobo Lukusa, Adeline Vanderver, Kayla Muirhead, Omar Sherbini, Melissa D Lah, Katelynn Anderson, Jeny Bazalar-Montoya, Richard S Rodriguez, Mario Cornejo-Olivas, Karina Milla-Neyra, Marwan Shinawi, Pilar Magoulas, Duncan Henry, Kate Gibson, Samuel Wiafe, Parul Jayakar, Daria Salyakina, Diane Masser-Frye, Arturo Serize, Jorge E Perez, Alan Taylor, Shruti Shenbagam, Ahmad Abou Tayoun, Alka Malhotra, Maren Bennett, Vani Rajan, James Avecilla, Andrew Warren, Max Arseneault, Tasha Kalista, Ali Crawford, Subramanian S Ajay, Denise L Perry, John Belmont, Ryan J Taft

Center for Medical Ethics and Health Policy Staff Publications

There is mounting evidence of the value of clinical genome sequencing (cGS) in individuals with suspected rare genetic disease (RGD), but cGS performance and impact on clinical care in a diverse population drawn from both high-income countries (HICs) and low- and middle-income countries (LMICs) has not been investigated. The iHope program, a philanthropic cGS initiative, established a network of 24 clinical sites in eight countries through which it provided cGS to individuals with signs or symptoms of an RGD and constrained access to molecular testing. A total of 1,004 individuals (median age, 6.5 years; 53.5% male) with diverse ancestral backgrounds …