Medicine and Health Sciences Commons^™

Avidity Maturation Of Humoral Response Following Primary And Booster Doses Of Bnt162b2 Mrna Vaccine Among Nursing Home Residents And Healthcare Workers, Oladayo A. Oyebanji, Nicholas Sundheimer, Vaishnavi Ragavapuram, Brigid M. Wilson, Jürgen Bosch, Christopher L. King, David H. Canaday

Faculty Scholarship

Infections, despite vaccination, can be clinically consequential for frail nursing home residents (NHR). Poor vaccine-induced antibody quality may add risk for such subsequent infections and more severe disease. We assessed antibody binding avidity, as a surrogate for antibody quality, among NHR and healthcare workers (HCW). We longitudinally sampled 112 NHR and 52 HCWs who received the BNT162b2 mRNA vaccine after each dose up to the Wuhan-BA.4/5-based Omicron bivalent boosters. We quantified anti-spike, anti-receptor binding domain (RBD), and avidity levels to the ancestral Wuhan, Delta, and Omicron BA.1 & 4/5 strains. The primary vaccination series produced substantial anti-spike and RBD levels …

Outcomes And Pattern Of Care For Spinal Myxopapillary Ependymoma In The Modern Era-A Population-Based Observational Study, Chenyang Wang, Michael K Rooney, Christopher Alvarez-Breckenridge, Thomas H Beckham, Caroline Chung, Brian S De, Amol J Ghia, David Grosshans, Nazanin K Majd, Mary F Mcaleer, Susan L Mcgovern, Robert Y North, Arnold C Paulino, Subha Perni, Jay P Reddy, Laurence D Rhines, Todd A Swanson, Claudio E Tatsui, Martin C Tom, Debra N Yeboa, Jing Li

Faculty, Staff and Student Publications

(1) Background: Myxopapillary ependymoma (MPE) is a rare tumor of the spine, typically slow-growing and low-grade. Optimal management strategies remain unclear due to limited evidence given the low incidence of the disease. (2) Methods: We analyzed data from 1197 patients with spinal MPE from the Surveillance, Epidemiology, and End Results (SEER) database (2000-2020). Patient demographics, treatment modalities, and survival outcomes were examined using statistical analyses. (3) Results: Most patients were White (89.9%) with a median age at diagnosis of 42 years. Surgical resection was performed in 95% of cases. The estimated 10-year overall survival was 91.4%. Younger age (hazard ratio …

Asymptomatic Covid-19-Associated Acquired Hemophilia A And Disseminated Intravascular Coagulation From A Bypassing Agent, Abraham Attah, Deanna Huffman, Palash Asawa, Vinay Edlukudige Keshava, Deep Shah

School of Medicine Faculty Publications

Acquired hemophilia A (AHA) is a clotting disorder characterized by the presence of neutralizing antibodies that inhibit factor VIII, resulting in increased bleeding risk. Known etiologies include malignancy, autoimmune conditions, graft-vs-host disease, and more recently coronavirus disease 2019 (COVID-19) infection. In this case report, we describe an 86-year-old female who was found to have AHA incidentally during preoperative workup for meningioma resection. She was subsequently found to have COVID-19 infection which was the likely cause of her development of AHA. She was treated with factor eight inhibitor bypassing agent (FEIBA) and recombinant factor VII (rVII) for a small hematoma on …

Lived Experiences Of Quality Of Life Among Makonde Immigrants In Kenya During And After The Covid-19 Pandemic, Shem Migosi Kenyanya

Walden Dissertations and Doctoral Studies

The COVID-19 pandemic affected Makonde immigrants’ health and quality of life around the world more than any other previous event. This descriptive qualitative study aimed to contribute knowledge and understanding of the lived experiences of Makonde immigrants and their health and quality of life during and after the COVID-19 pandemic. Shye’s systematic quality of life model served as the theoretical basis for the study, along with Wilson and Cleary’s conceptual model of health quality of life. Semi-structured interviews were conducted with ten participants recruited through social media and flyers posted in Kilifi and Kwale counties. Subjects were interviewed face-to-face and …

Radiotherapy Plan Quality Assurance In Nrg Oncology Trials For Brain And Head/Neck Cancers: An Ai-Enhanced Knowledge-Based Approach, Du Wang, Huaizhi Geng, Vinai Gondi, Nancy Lee, Christina Tsien, Ping Xia, Thomas Chenevert, Jeff Michalski, Mark Gilbert, Quynh-Thu Le, Antonio Omuro, Kuo Men, Kenneth Aldape, Yue Cao, Ashok Srinivasan, Igor Barani, Sean Sachdev, Jiayi Huang, Serah Choi, Wenyin Shi, James Battiste, Zabi Wardak, Michael Chan, Minesh Mehta, Ying Xiao

Department of Radiation Oncology Faculty Papers

The quality of radiation therapy (RT) treatment plans directly affects the outcomes of clinical trials. KBP solutions have been utilized in RT plan quality assurance (QA). In this study, we evaluated the quality of RT plans for brain and head/neck cancers enrolled in multi-institutional clinical trials utilizing a KBP approach. The evaluation was conducted on 203 glioblastoma (GBM) patients enrolled in NRG-BN001 and 70 nasopharyngeal carcinoma (NPC) patients enrolled in NRG-HN001. For each trial, fifty high-quality photon plans were utilized to build a KBP photon model. A KBP proton model was generated using intensity-modulated proton therapy (IMPT) plans generated on …

Plasmonic Nano-Aperture Label-Free Imaging Of Single Small Extracellular Vesicles For Cancer Detection, Nareg Ohannesian, Mohammad Sadman Mallick, Jianzhong He, Yawei Qiao, Nan Li, Simona F Shaitelman, Chad Tang, Eileen H Shinn, Wayne L Hofstetter, Alexei Goltsov, Manal M Hassan, Kelly K Hunt, Steven H Lin, Wei-Chuan Shih

Faculty, Staff and Student Publications

BACKGROUND: Small extracellular vesicle (sEV) analysis can potentially improve cancer detection and diagnostics. However, this potential has been constrained by insufficient sensitivity, dynamic range, and the need for complex labeling.

METHODS: In this study, we demonstrate the combination of PANORAMA and fluorescence imaging for single sEV analysis. The co-acquisition of PANORAMA and fluorescence images enables label-free visualization, enumeration, size determination, and enables detection of cargo microRNAs (miRs).

RESULTS: An increased sEV count is observed in human plasma samples from patients with cancer, regardless of cancer type. The cargo miR-21 provides molecular specificity within the same sEV population at the single …

Improving Adherence Rates To Postpartum Screening Of Diabetes In Women With Gestational Diabetes Mellitus: An Evidence-Based Project, Alicia Hernandez Punsalan

Doctor of Nursing Practice Final Manuscripts

Background: Women with a history of gestational diabetes mellitus are at increased risk of developing type 2 diabetes mellitus. Approximately 6%–10% of pregnancies in the United States are complicated by gestational diabetes mellitus, yet postpartum diabetes screening rates are low nationwide.

Purpose: This project focused on implementing a multi-modal reminder system to increase adherence to postpartum diabetes screening, or the 2-hour oral glucose tolerance test, for women with a history of gestational diabetes mellitus in the 4-12 weeks postpartum period.

Evidence-Based Practice Change: The multi-modal reminder system was comprised of an educational session for the staff reviewing current clinical guidelines …

“Shoes Enthused”: The Application Of An Evidence-Based Practice Podiatry Consultation And Footwear Education In Older Adults Living With Diabetes, Alissa Kathleena Gray, Razel Bacuetes Milo

Doctor of Nursing Practice Final Manuscripts

Background: Poorly fitted footwear contributes to falls in older adults living with diabetes, a population that experiences a baseline increased risk for falls in the presence of diabetic peripheral neuropathy. Despite this, baseline data reveals that 72% of older adults wear poorly fitted shoes with suboptimal shoe features¹.

Purpose of Project: Adhering to current evidence-based practice guidelines, the two goals of this project were to educate older adults with diabetes on the characteristics of properly fitted footwear and to increase access to properly fitted shoes via a podiatry consultation. Subsequently, the increased number of optimal footwear will decrease …

Screening For Adverse Childhood Experiences In An Adult Intensive Outpatient Therapy Program: A Pilot Project, Kristen Curry

Doctor of Nursing Practice Final Manuscripts

Introduction: The purpose of this evidence-based Doctor of Nursing Practice project was to pilot the implementation of the Adverse Childhood Experiences (ACEs) Questionnaire for Adults during admission to an intensive outpatient program (IOP) to identify clients who have experienced ACEs and provide risk-reduction measures to mitigate risks of ACE-related long-term health consequences. The study site is a Southern California-based large healthcare organization that provides outpatient intensive therapy programs which employ a variety of clinicians, to provide mental health care to clients across the lifespan.

Background: Adverse Childhood Experiences (ACEs) are potentially traumatic events including neglect, abuse, and certain forms of …

School Stock Albuterol, Trish Reyes

Doctor of Nursing Practice Final Manuscripts

SCHOOL STOCK BRONCHODILATOR INHALER POLICY FOR IMMMEDITE ACCESS IN SCHOOLS

Introduction: The purpose of this evidence- based practice DNP project was to do a systematic review, examine stock inhaler policies in school districts, and provide policy recommendations for school districts to implement the Stock Albuterol Access law. The Stock Albuterol law enacted in January 2024 would allow schools to provide an Albuterol inhaler on hand for a student experiencing respiratory distress. Albuterol inhalers provided by school personnel can be lifesaving, control asthma symptoms, have better health outcomes, increase the quality of life, and decrease Emergency and Urgent Care visits, and …

Implementing A Naloxone Training And Opioid Overdose Prevention Program At A Residential Addiction Treatment Center, Martha Plack

Doctor of Nursing Practice Final Manuscripts

Introduction: Amidst the escalating opioid overdose crisis in the United States, it is imperative to deploy effective harm-reduction strategies. This Doctor of Nursing Practice (DNP) project involved the development, implementation, and evaluation of a Naloxone Training and Opioid Overdose Prevention Program delivered to clients at a residential addiction treatment center. The primary objective of this project was to determine if the educational intervention led to an improvement in participants' knowledge and attitudes about opioid overdose and naloxone use.

Background: Overdose fatalities are a leading cause of injury-related death in the United States. The majority of fatal overdoses involve opioids. Unfortunately, …

Fall Reduction In The Home Setting For Older Adults: An Evidenced Based Practice Project, Alison Birnie

Doctor of Nursing Practice Final Manuscripts

Falls in the elderly over the age of 65 are the highest mechanism of injury in a Level II TraumaCenter in the SanGabriel Valley. In reviewing the data from 2021-2022, there were 20,653 patients over the age of 65 that arrived in the EmergencyDepartment, 12.3% of those patients had falls. The Senior Care Network is a service line of Huntington Hospital whose mission is to support the health and well-being of older adults living in and around Pasadena and the San Gabriel Valley. To meet this mission, the Multipurpose Senior Services Program (MSSP) supports community members 65 and older covered …

Care Of The Critically Ill Nontrauma Patient: Improving Emergency Department Readiness And Patient Care Through The Implementation Of A Dedicated Resuscitation Bay, Martha H. Buck Rn, Bsn, Tcrn

Doctor of Nursing Practice Final Manuscripts

Current best practice among emergency departments worldwide includes the maintenance of a dedicated resuscitation space. This practice allows for team members and equipment to be ready at a moment’s notice to provide care to a patient in need of lifesaving interventions. This evidence-based performance improvement project seeks to implement this standard of care in a busy, urban emergency department in Southern California.

Prior to this study, patients at this facility were placed in the next available care space, without the maintenance of a dedicated resuscitation area for critically ill patients. Survey data evaluating staff levels of perceived readiness to care …

Keep The Beat: Increase Sudden Cardiac Awareness And Improve Cardiac Arrest Bystander Intervention, Carley Garnica

Doctor of Nursing Practice Final Manuscripts

Background: Sudden cardiac arrest (SCA) is a rare but life-threatening condition where a person’s heart stops suddenly. It remains the leading cause of death on school campuses with chances of survival being less than 10%. Every minute without cardiopulmonary resuscitation (CPR) decreases survival by 10%. Poor outcomes are attributed to bystanders who are not prepared or are unwilling to take action in the event of a cardiac emergency. Therefore, bystanders play a crucial role in cardiac arrest.

Objectives: The purpose of this project was to educate high school students about SCA and Cardiac Chain of Survival, with the primary objective …

Increasing Patient Access To Mental Health Providers: Improving Depression And Anxiety Outcomes For African American Women Aged 18 Years Old And Older, Twanna Davis-Arnold, Farnaz Trasandes

Doctor of Nursing Practice Final Manuscripts

Increasing patient access to mental health providers: Improving depression and anxiety outcomes for African American women aged 18 years old and older.

Background: Depression and anxiety are growing health problems in the United States. In 2020/2021, there was a 36.4% to 41.5% increase in reported symptoms of depression and anxiety. Evidence has shown that African American women experience disproportionate increased risks and disparities in obtaining mental health care.

Purpose of Project: To improve access to African American or culturally competent mental health providers for adult African American women. Improving access to mental health care will lead to earlier diagnosis …

Education Program To Increase Compliance With Advance Directive Completion In A Primary Care Setting Among Filipino Americans, Genalin Paglingayen

Doctor of Nursing Practice Final Manuscripts

Abstract

Introduction: This evidence-based practice project aimed to provide an education program to Filipino Americans in their preferred language (English or Tagalog) to improve compliance with Advance Directive (AD) completion in a primary care setting. Educating them about AD empowers patients with their decision-making about their health in situations where they are incapacitated and unable to make sound decisions. Moreover, it will eliminate the decision-making problem for family members.

Background: An advance directive is a document that empowers patients to convey their wishes to their healthcare provider when they can no longer decide for themselves. Evidence suggested that …

Dm Education On Lifestyle Modification To Improve Dm Knowledge Retention And Self-Care Confidence, Jinyoung Sanchez

Doctor of Nursing Practice Final Manuscripts

Abstract

Introduction: The purpose of this evidence-based practice project was to provide diabetes education to improve diabetes knowledge and self-care confidence for patients with type 2 diabetes admitted to a tertiary hospital in San Diego. First, this study was to assess their DM knowledge and self-confidence before the education was provided. Second, based on the initial assessment and the education on lifestyle modification, 3 months of follow up was assessed to see if the education had been effective. Third, the study was to determine if the education also improved the self-confidence in managing diabetes on their own.

Background: Uncontrolled diabetes …

There’S An App For That: Reducing Stress In Peri- And Post-Menopausal Women, Roxane M. Brown, Bsn, Rn

Doctor of Nursing Practice Final Manuscripts

Introduction: This evidence-based Doctor of Nursing Practice project aimed to demonstrate the impact of Calm mobile application mindfulness activities on perceived stress levels in peri- and post-menopausal women ages 45 - 60 years old in a community setting.

Background: In 2020, 31.8 million women in the United States (U.S.) were between 45 and 60 years old. They are mothers, daughters, employees, and bosses, navigate intimate and social relationships, and are often caregivers. It can be a stressful stage of life. Meanwhile, these women experience menopausal changes, including hot flashes, mood changes, sleep disturbances, and cognitive difficulties. Peri- and post-menopausal women …

Personalized Text Message Reminders For Psychiatric Out Patients, Jusac Suryanata

Doctor of Nursing Practice Final Manuscripts

Abstract

Introduction: The purpose of this evidence-based Doctor of Nursing Practice project was to implement the use of personalized text message reminders to increase adherence to out-patient psychiatric visits and decrease the rate of no-show appointments. The study site is a Southern California-based outpatient mental health practice that employs a variety of clinicians to provide mental health care to clients across the lifespan for a variety of patients throughout all socio-economic brackets.

Background: Approximately 23% of individuals who are scheduled with this provider result with a no-show appointment during the period of data mining. In general, psychiatric patients are most …

Reducing Maternal Morbidity From Peripartum Hemorrhage In Cesarean Delivery, Jennie Lee

Dissertations

Background/Purpose: Maternal hemorrhage is the second highest cause of direct maternal death and the leading cause of morbidity and mortality in the United States. This public health crisis is highlighted by the economic burden of over $30.8 million annually in the United States. The greatest tragedy in the review of maternal mortality is that 84% of pregnancy-related deaths were determined preventable. Identifying trends of factors that predispose women to hemorrhage can mitigate rates of severe maternal morbidity and mortality. This study describes relationships among demographic factors (maternal age, race, and ethnicity), clinical and physiologic factors, which include coexisting medical conditions …

Genetic Or Pharmacological Ghsr Blockade Has Sexually Dimorphic Effects In Rodents On A High-Fat Diet, András H Lékó, Adriana Gregory-Flores, Renata C N Marchette, Juan L Gomez, Janaina C M Vendruscolo, Vez Repunte-Canonigo, Vicky Choung, Sara L Deschaine, Kimberly E Whiting, Shelley N Jackson, Maria Paula Cornejo, Mario Perello, Zhi-Bing You, Michael Eckhaus, Karuna Rasineni, Kim D Janda, Barry Zorman, Pavel Sumazin, George F Koob, Michael Michaelides, Pietro P Sanna, Leandro F Vendruscolo, Lorenzo Leggio

Faculty, Staff and Students Publications

The stomach-derived hormone ghrelin regulates essential physiological functions. The ghrelin receptor (GHSR) has ligand-independent actions; therefore, GHSR gene deletion may be a reasonable approach to investigate the role of this system in feeding behaviors and diet-induced obesity (DIO). Here, we investigate the effects of a long-term (12-month) high-fat (HFD) versus regular diet on obesity-related measures in global GHSR-KO and wild-type (WT) Wistar male and female rats. Our main findings are that the GHSR gene deletion protects against DIO and decreases food intake during HFD in male but not in female rats. GHSR gene deletion increases thermogenesis and brain glucose uptake …

Radiotherapy Plan Quality Assurance In Nrg Oncology Trials For Brain And Head/Neck Cancers: An Ai-Enhanced Knowledge-Based Approach, Du Wang, Jeff M Michalski, Jiayi Huang, Et Al.

2020-Current year OA Pubs

The quality of radiation therapy (RT) treatment plans directly affects the outcomes of clinical trials. KBP solutions have been utilized in RT plan quality assurance (QA). In this study, we evaluated the quality of RT plans for brain and head/neck cancers enrolled in multi-institutional clinical trials utilizing a KBP approach. The evaluation was conducted on 203 glioblastoma (GBM) patients enrolled in NRG-BN001 and 70 nasopharyngeal carcinoma (NPC) patients enrolled in NRG-HN001. For each trial, fifty high-quality photon plans were utilized to build a KBP photon model. A KBP proton model was generated using intensity-modulated proton therapy (IMPT) plans generated on …

Hemoadsorption With Cytosorb As Part Of A Strategy To Improve Outcomes In Patients On Extracorporeal Membrane Oxygenation, Ruzica Mrkonjic

The VAD Journal

The exposure of a patient’s blood to the non-endothelialized surface of the extracorporeal membrane oxygenation (ECMO) system results in the production of pro-inflammatory and anti-inflammatory cytokines. This imbalance in pro- and anti-inflammatory cytokines leads to inflammatory response syndrome, which contributes to edema, vasoplegia, and multiple organ failure among other complications. Hemoadsorption therapy, with the use of CytoSorb^® (CytoSorbents) has emerged as a well-accepted treatment option that helps control pro-inflammatory response and improve outcomes for patients on ECMO. However, studies have shown that the potential of hemoadsorption is controversial and that it is crucial for clinicians to weigh the pros …

Intimacy Following Cerebral Vascular Accident, Hannah Caitlyn Guschel, Sarah Hendrickson

Graduate Student Scholarship

In the United States, a cerebral vascular accident (CVA) is a leading cause of death and a significant contributor to severe disabilities for adults (Centers for Disease Control and Prevention, 2022a). Two areas of post-stroke deficits and changes that are not frequently addressed in treatments are sexual activity dysfunctions and challenges with intimacy after stroke. Occupational therapy practitioners have the education, training, and practice areas within our framework to address issues relating to sexuality and provide education on the matter. Sexuality should be addressed, like all other activities of daily living, thorough and assiduous. This study was a cross-sectional design …

Challenges And Opportunities In The Uptake Of Simulation In Healthcare Education In The Developing World: A Scoping Review, Faisal Wasim Ismail, Khairulnissa Ajani, Syed Mujtaba Baqir, Ahmed Nadeem, Rayyan Qureshi, Pammla Petrucka

Centre for Innovation in Medical Education

Background: Simulation is increasingly being adopted by healthcare educators throughout the developed world as it offers a safe environment to practice skills. While there is literature on learning via simulation in healthcare in the developed world, more studies are required to investigate the factors influencing this approach in the developing world.
Objective: This scoping review highlights the key factors that act as deterrents as well as encouragement to the uptake of simulation as a teaching methodology in healthcare education in developing countries.
Design: The MEDLINE (via OVID, using keywords and MeSH in OVID), and PubMed (via NCBI using MeSH), and …

Construct Length Analysis Of Type B And C Cervical And Thoracolumbar Fractures, Jeremy C. Heard, Mark J. Lambrechts, Yunsoo Lee, Teeto Ezeonu, Delano R. Trenchfield, Nicholas D. D'Antonio, Azra N. Dees, Bright M. Wiafe, John J. Mangan, Jose A. Canseco, Barrett I. Woods, Ian David Kaye, Alan S. Hilibrand, Alex R. Vaccaro, Christopher K. Kepler, Gregory D. Schroeder

Rothman Institute Papers

Objectives:

The purpose of this study is to identify if construct length affects the rate of surgical complications and instrumentation revision following surgical fixation of subaxial and thoracolumbar Type B and C fractures. This study evaluates the effect of ankylosing spondylitis/diffuse idiopathic skeletal hyperostosis (AS/DISH) within this population on outcomes.

Methods:

Retrospective review of 91 cervical and 89 thoracolumbar Type B and C fractures. Groups were divided by construct length for analysis: short-segment (constructs spanning two or less segments adjacent to the fracture) and long-segment (constructs spanning more than two segments adjacent to the vertebral fracture).

Results:

For cervical fractures, …

Promoting Engagement Of Male Individuals With Alzheimer’S In A Memory Day Care, Tara Brophy

Entry-Level Occupational Therapy Doctorate - Doctoral Capstone Symposium

Alzheimer’s and related dementias impact an individual's cognitive, psychological, social, and physical functions resulting in impairments within the engagement of activities. Activities offer many therapeutic benefits including improvements in mood, alertness, communication, socialization, sleep, cognitive function, and quality of life. The focus of this quality improvement capstone project was to address the decreased level of engagement in male members within a memory day care center setting through engaging them in male-tailored activities. The project included the development of a website that provided tailored male-oriented activities and educational resources that were shared with the staff to revise their day care activity …

Ver-Net: A Hybrid Transfer Learning Model For Lung Cancer Detection Using Ct Scan Images, Anindita Saha, Shahid Mohammad Ganie, Pijush Kanti Dutta Pramanik, Rakesh Kumar Yadav, Saurav Mallik, Zhongming Zhao

Faculty, Staff and Student Publications

BACKGROUND: Lung cancer is the second most common cancer worldwide, with over two million new cases per year. Early identification would allow healthcare practitioners to handle it more effectively. The advancement of computer-aided detection systems significantly impacted clinical analysis and decision-making on human disease. Towards this, machine learning and deep learning techniques are successfully being applied. Due to several advantages, transfer learning has become popular for disease detection based on image data.

METHODS: In this work, we build a novel transfer learning model (VER-Net) by stacking three different transfer learning models to detect lung cancer using lung CT scan images. …

Covid-19 Vaccine Motivation And Hesitancy Among A Sample Of African American, Afro-Caribbean, And African Respondents In The United States, Shauna K. Elbers, Denise A. Vaughan, Yordanos M. Tiruneh

School of Medicine Faculty Publications and Presentations

Understanding the motivations and decisions behind COVID-19 vaccine acceptance is crucial for designing targeted public health interventions to address vaccine hesitancy. We conducted a qualitative analysis to explore COVID-19 vaccine acceptance among diverse ethnic subgroups of Black Americans in the United States. This study investigates the 2021–2022 responses of 79 African American, Afro-Caribbean, and African respondents over the age of 18 in Washington State and Texas. Respondents were asked “Do you plan to get the COVID-19 vaccination?” Qualitative responses were analyzed by content category and ethnic subgroup. Of the 79 responses, 60 expressed favorable perceptions, 16 expressed unfavorable perceptions, and …

Validation Of Human Telomere Length Multi-Ancestry Meta-Analysis Association Signals Identifies Pop5 And Kbtbd6 As Human Telomere Length Regulation Genes, Rebecca Keener, Surya B Chhetri, Carla J Connelly, Margaret A Taub, Matthew P Conomos, Joshua Weinstock, Bohan Ni, Benjamin Strober, Stella Aslibekyan, Paul L Auer, Lucas Barwick, Lewis C Becker, John Blangero, Eugene R Bleecker, Jennifer A Brody, Brian E Cade, Juan C Celedon, Yi-Cheng Chang, L Adrienne Cupples, Brian Custer, Barry I Freedman, Mark T Gladwin, Susan R Heckbert, Lifang Hou, Marguerite R Irvin, Carmen R Isasi, Jill M Johnsen, Eimear E Kenny, Charles Kooperberg, Ryan L Minster, Take Naseri, Satupa'itea Viali, Sergei Nekhai, Nathan Pankratz, Patricia A Peyser, Kent D Taylor, Marilyn J Telen, Baojun Wu, Lisa R Yanek, Ivana V Yang, Christine Albert, Donna K Arnett, Allison E Ashley-Koch, Kathleen C Barnes, Joshua C Bis, Thomas W Blackwell, Eric Boerwinkle, Esteban G Burchard, April P Carson, Zhanghua Chen, Yii-Der Ida Chen, Dawood Darbar, Mariza De Andrade, Patrick T Ellinor, Myriam Fornage, Bruce D Gelb, Frank D Gilliland, Jiang He, Talat Islam, Stefan Kaab, Sharon L R Kardia, Shannon Kelly, Barbara A Konkle, Rajesh Kumar, Ruth J F Loos, Fernando D Martinez, Stephen T Mcgarvey, Deborah A Meyers, Braxton D Mitchell, Courtney G Montgomery, Kari E North, Nicholette D Palmer, Juan M Peralta, Benjamin A Raby, Susan Redline, Stephen S Rich, Dan Roden, Jerome I Rotter, Ingo Ruczinski, David Schwartz, Frank Sciurba, M Benjamin Shoemaker, Edwin K Silverman, Moritz F Sinner, Nicholas L Smith, Albert V Smith, Hemant K Tiwari, Ramachandran S Vasan, Scott T Weiss, L Keoki Williams, Yingze Zhang, Elad Ziv, Laura M Raffield, Alexander P Reiner, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium, Topmed Hematology And Hemostasis Working Group, Topmed Structural Variation Working Group, Marios Arvanitis, Carol W Greider, Rasika A Mathias, Alexis Battle

Faculty, Staff and Student Publications

Genome-wide association studies (GWAS) have become well-powered to detect loci associated with telomere length. However, no prior work has validated genes nominated by GWAS to examine their role in telomere length regulation. We conducted a multi-ancestry meta-analysis of 211,369 individuals and identified five novel association signals. Enrichment analyses of chromatin state and cell-type heritability suggested that blood/immune cells are the most relevant cell type to examine telomere length association signals. We validated specific GWAS associations by overexpressing KBTBD6 or POP5 and demonstrated that both lengthened telomeres. CRISPR/Cas9 deletion of the predicted causal regions in K562 blood cells reduced expression of …