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Full-Text Articles in Higher Education and Teaching

Remixing Dialogue: A Case Study On Perceptions Of Hip Hop Pedagogy In A Professional Learning Course, Kelly J. Thelen Aug 2026

Remixing Dialogue: A Case Study On Perceptions Of Hip Hop Pedagogy In A Professional Learning Course, Kelly J. Thelen

Dissertations, Theses, and Projects

This qualitative case study examines how teachers’ decision-making and professional autonomy shift while participating in a Hip Hop Pedagogy Professional Learning course supported by structured FIXIT (Lo & Wachter, 2023a, 2023b, 2023c, 2023d; Wachter & Lo, 2024) game-facilitated dialogue in a rural, culturally and linguistically diverse Midwest community. Grounded in Freire’s (1970) Critical Pedagogy, Ladson-Billings’ (1995) Culturally Relevant Pedagogy, Culturally Sustaining Pedagogy (Paris and Alim, 2017), and Adult Learning Theory (Knowles et al., 2005), the study explores the reclamation of agency by teachers in a time of constrained creativity and educator autonomy shaped by strict policy environments, an emphasis on …


The Role Of Perceived Academic And Peer Support In Mitigating Imposter Syndrome Among Adhd Students, Eden Morley Dr Jul 2026

The Role Of Perceived Academic And Peer Support In Mitigating Imposter Syndrome Among Adhd Students, Eden Morley Dr

Journal of Science Education for Students with Disabilities

Background: Attention-Deficit/Hyperactivity Disorder (ADHD) in higher education is associated with significant executive functioning deficits and performance inconsistencies. These challenges, alongside heightened rejection sensitivity, may predispose students to the Imposter Phenomenon (IP)—the persistent belief that one’s success is undeserved. While social and academic supports are known to buffer psychological distress, their specific role in mitigating IP within the ADHD student population remains under-researched.

Objectives: This study investigated the severity of IP among undergraduate students with ADHD and examined the protective roles of Perceived Social Support (PSS) and Perceived Academic Support (PAS), while exploring gender as a potential moderator.

Methodology: A cross-sectional …


Course Portfolio: Elements Of Physics Phys 151, Evan A. Rich Jun 2026

Course Portfolio: Elements Of Physics Phys 151, Evan A. Rich

UNL Faculty Course Portfolios

This course portfolio documents the instructional design, teaching methods, and ongoing assessment efforts for PHYS 151: Elements of Physics, an algebra-based introductory physics course at the University of Nebraska-Lincoln. The course serves a broad undergraduate population, including architecture, construction management, and life science majors. The portfolio describes the teaching framework that integrates pre-lecture video preparation, active in-class engagement through iClicker questions, and collaborative weekly recitation sections, all unified around a structured six-step problem-solving approach. A central concern of the course is building students’ self-efficacy in physics, particularly among those with math anxiety or limited preparation. Two assessments are reported: a …


First Course Portfolio For Plpt 803 Fundamentals Of Scientific Discovery, Hernan Garcia-Ruiz Jun 2026

First Course Portfolio For Plpt 803 Fundamentals Of Scientific Discovery, Hernan Garcia-Ruiz

UNL Faculty Course Portfolios

PLPT 803 Fundamentals of Scientific discovery is a new curse in the Department of Plant Pathology at the University of Nebraska-Lincoln. I designed and developed this course from the ground up. Initially, it was offered as a special topic (PLPT 892-014) for four years. PLPT 803 was approved by the College of Agricultural Sciences and Natural Resources curriculum committee in September of 2025. PLPT 803 is unique within the University of Nebraska system and will be offered for the first time in the fall of 2027. The course is designed for students to learn fundamental scientific skills such as scrutinize, …


Increasing Students’ Self-Efficacy In Consuming, Conducting, And Disseminating Neuroimaging Research: Experiences From Teaching Edps 991: Social And Affective Neuroscience, Isabella Starling Alves May 2026

Increasing Students’ Self-Efficacy In Consuming, Conducting, And Disseminating Neuroimaging Research: Experiences From Teaching Edps 991: Social And Affective Neuroscience, Isabella Starling Alves

UNL Faculty Course Portfolios

Social and emotional factors are critical for learning, being core aspects of the educational  psychology curricula. Recently, neuroimaging has emerged as a powerful tool to  comprehend the neurobiological factors underlying these factors. Yet, many educational  psychologists have low familiarity with neuroscience research. The course EDPS 991:  Social and Affective Neuroscience, from the Department of Educational Psychology at the  University of Nebraska-Lincoln, emerges in this context, training educational psychology  graduate students to consume, conduct, and disseminate findings about how the brain  relates to socioemotional processes. One challenge related to the course is that many  students feel anxious about learning the neuroimaging …


Virtualizing Practical Science Education: A Sociological Analysis Of Undergraduate Teaching And Learning, Sina J. Fakoyede, Femi E. Babalola, Oluwatoyin T. Obateru, Oluwayemisi D. Akomolafe, Deborah O. Alabi, Stella K. Ekundayo May 2026

Virtualizing Practical Science Education: A Sociological Analysis Of Undergraduate Teaching And Learning, Sina J. Fakoyede, Femi E. Babalola, Oluwatoyin T. Obateru, Oluwayemisi D. Akomolafe, Deborah O. Alabi, Stella K. Ekundayo

Higher Learning Research Communications

Objectives: The study aims to investigate the perspectives of university teachers and students on integrating practical science teaching with virtual learning in a multicultural and diverse society, specifically within the context of southwestern Nigeria.

Methods: A mixed-methods approach was employed, involving data collection from 100 university lecturers and 400 undergraduate students across 10 universities. Qualitative data were gathered through semi-structured interviews with lecturers and focus group discussions with students. Quantitative data were obtained via structured questionnaires, allowing for triangulation and comprehensive analysis.

Results: Findings revealed that certain lecturers showed preferential support influenced by students’ cultural backgrounds or academic behavior during …


Evaluating A Research Experience For Teachers: Benefits And Challenges For Summer Stem Professional Development, Mark T. Felts, Darcy Tessman, Emily Simpson, Mark Nanny Apr 2026

Evaluating A Research Experience For Teachers: Benefits And Challenges For Summer Stem Professional Development, Mark T. Felts, Darcy Tessman, Emily Simpson, Mark Nanny

The Rural Educator

This focus group study examined the participant motivation for and potential impact of the Research Experience for Teachers (RET) program on rural STEM educators. Due to geographic isolation and low wages in rural areas, STEM teachers often engage in summer work, which provides practical, real-world applications of STEM principles and enhances instructional methods during the school year. By fostering university partnerships and providing summer research opportunities, RET aligns with the National Rural Research Agenda’s (NREA) priorities of enhancing community relationships and bolstering teacher preparation, recruitment, and retention. Findings indicate that participation in RET boosts teachers’ curricular skills, professional networks, and …


Copyright Information Mar 2026

Copyright Information

Journal of Science Education for Students with Disabilities

Publication rights to works is granted to Journal of Science Education for Students with Disabilities, however, full copyright for works published in this journal is retained by the author(s). The author(s) may post their works online in an institutional repository, on their university departmental website, or on their own personal websites.


From The Editors..., Thomastine Sarchet-Maher Mar 2026

From The Editors..., Thomastine Sarchet-Maher

Journal of Science Education for Students with Disabilities

No abstract provided.


Call For Manuscripts, Thomastine Sarchet-Maher Mar 2026

Call For Manuscripts, Thomastine Sarchet-Maher

Journal of Science Education for Students with Disabilities

The Journal of Science Education for Students with Disabilities is a peer-reviewed, open access, multi-disciplinary online journal with an international focus. We publish articles that reflect the best of research and practice related to inclusive science education, including works submitted by science and special education researchers, teacher educators, and teachers. Interesting topics have included innovative curricular ideas, instructional adaptations, research-based modifications, best practices, and management strategies in science education. JSESD adopts the philosophical perspective that all students can achieve in science, and that science benefits from the full participation of all students.


Exploring The Lived Experiences Of Black Women In Undergraduate Stem Core Expansion Pathways, Lizzie L. Evans Martinez Alvarez Mar 2026

Exploring The Lived Experiences Of Black Women In Undergraduate Stem Core Expansion Pathways, Lizzie L. Evans Martinez Alvarez

Electronic Theses and Dissertations

The use of social incongruence in the film Hidden Figures, which juxtaposed with STEM education as the most powerful in contrast with Black women as the least powerful, supported the argument for the specific problem of practice to examine the unmet need for socially and ethnically diverse student populations in U.S. STEM higher education and careers. The purpose of this hermeneutic phenomenological research study was to identify and analyze the lived experiences of Black women regarding barriers they perceive in the STEM educational and career decision-making processes, while exploring transformational pathways to STEM academic success. The study specifically analyzed …


Enhancing Science Accessibility And Engagement For Students With Visual Impairments: A Randomized Trial Of The Talking Labquest In Nigerian Schools, Sariat A. Adelakun Dr Feb 2026

Enhancing Science Accessibility And Engagement For Students With Visual Impairments: A Randomized Trial Of The Talking Labquest In Nigerian Schools, Sariat A. Adelakun Dr

Journal of Science Education for Students with Disabilities

Students with Blindness in Nigeria are often erroneously perceived as incapable of engaging with science at the basic education level, contributing to their low enrolment in science-related careers. Although various techniques and materials have been proposed to support students with blindness in science, many lack empirical validation. This study investigated one such approach by examining the impact of the Talking LabQuest on the interest of Students with blindness in science subjects.

A randomized controlled trial was conducted in inclusive junior secondary schools in Nigeria, involving 20 classrooms over an 18-week period. Twelve classrooms were randomly assigned to the intervention group, …


The Role Of Self-Awareness, Advocacy, And Support In Stem Success: Stories From Landmark College's Aie-Stemplos Program, Anastasio Bonhomme, Jaden Clark, Madison Wan, Gabrielle Woolgar, Rebecca Matte, Christin B. Monroe Feb 2026

The Role Of Self-Awareness, Advocacy, And Support In Stem Success: Stories From Landmark College's Aie-Stemplos Program, Anastasio Bonhomme, Jaden Clark, Madison Wan, Gabrielle Woolgar, Rebecca Matte, Christin B. Monroe

Journal of Science Education for Students with Disabilities

Neurodivergent individuals bring unique perspectives and talents to STEM fields while facing distinct challenges, particularly in higher education environments that often rely on traditional learning models. Landmark College’s AIE-STEMPLOS program provides an innovative framework to empower neurodivergent STEM scholars by fostering self-awareness, advocacy, and community support. Grounded in Universal Design for Learning (UDL) principles and strengths-based approaches, the program leverages tools like the Birkman Method® to help students articulate their strengths and communication styles in professional terms. This paper examines how accessible learning strategies, peer mentorship, and individualized advising cultivate belonging, confidence, and resilience among neurodivergent STEM scholars, offering a …


The Hidden Opportunities Within The Stem Workforce Pipeline, Brad Schenker Jan 2026

The Hidden Opportunities Within The Stem Workforce Pipeline, Brad Schenker

STEM for Success Showcase

Five Connections in STEM Education That Can Harmonize America's Workforce Pipeline

The recent changes to our education system have created a state of uncertainty and instability, which presents a unique moment in time to change systemic design failures that can be accomplished within existing budget, people and resource constraints.

This analysis of research, mostly from 2015-2025, identifies five opportunities in the STEM workforce pipeline to create “Moments of Impact” that can change the direction of a student's STEM education pathway.


Multimedia-Based Interventions To Improve Science Learning Outcomes For Deaf Students At Wangsel Institute For The Deaf., Cheten Tshering Mr., Tshering Wangchuk Jan 2026

Multimedia-Based Interventions To Improve Science Learning Outcomes For Deaf Students At Wangsel Institute For The Deaf., Cheten Tshering Mr., Tshering Wangchuk

Journal of Science Education for Students with Disabilities

Efforts have been made to ensure inclusive learning opportunities for all students, including those from diverse backgrounds. One key strategy to enhance children’s learning and academic performance involves the thoughtful selection and application of instructional tools tailored to meet learners' specific needs. This study examines the impact of multimedia-based instruction on science achievement among deaf students at Wangsel Institute for the Deaf in Bhutan. Using a quasi-experimental design, the research compared pretest and post-test results between a control group and an experimental group. Data analysis included descriptive statistics (t-test) and ANCOVA. The findings indicated a statistically significant differences (p = …


Research In Progress. Why Physiology Feels Hard: Supporting The Transition To Self-Directed Learning In Post-Secondary Physiology, Jaelyn Zoe Rohrbaugh, Mark Paternostro Jan 2026

Research In Progress. Why Physiology Feels Hard: Supporting The Transition To Self-Directed Learning In Post-Secondary Physiology, Jaelyn Zoe Rohrbaugh, Mark Paternostro

2026 Scholarly Teaching Conference: Poster Session Papers

Physiology is widely recognized as one of the most challenging courses for STEM students. Contributing factors include the discipline’s inherent complexity, instructional methods, and student preparedness, with both faculty and students identifying the nature of the discipline as the primary challenge. Many undergraduates enter college having experienced predominantly teacher-directed, pedagogical instruction, whereas success in college-level physiology requires self-directed, andragogical learning strategies. We hypothesize that students’ difficulties arise more from a lack of self-directed learning skills than from content complexity alone. To investigate this, we administered an anonymous survey to 340 students spanning freshman to professional levels, achieving a 93% completion …


Bringing Real Research Into Large-Enrollment Biology Labs, Katrina Klugh Stewart, Mathilda Corbett Jan 2026

Bringing Real Research Into Large-Enrollment Biology Labs, Katrina Klugh Stewart, Mathilda Corbett

2026 Scholarly Teaching Conference: Poster Session Papers

Hundreds of WVU students in a large-enrollment introductory biology laboratory course (BIOL 115L) participated in an authentic research experience through the Prevalence of Antibiotic Resistance in the Environment (PARE) Project. This national crowdsourced research initiative engages students in generating environmental DNA data to identify potential antibiotic resistance hotspots. For the Fall 2025 semester, we designed a multi-week lab module to implement a cost-effective, scalable version of the PARE model suitable for a course serving approximately 900 students annually.

The three-week sequence integrates core scientific practices, including hypothesis generation, field sampling, DNA extraction, PCR amplification of antibiotic resistance genes, gel electrophoresis, …


Practicing Professionalism Framework: A Coherent Course Structure Aligned With Effective Practices For Physics Programs (Ep3) Guidelines, Martha-Elizabeth Baylor, Suzanne White Brahmia Jan 2026

Practicing Professionalism Framework: A Coherent Course Structure Aligned With Effective Practices For Physics Programs (Ep3) Guidelines, Martha-Elizabeth Baylor, Suzanne White Brahmia

Physics and Astronomy Faculty Work

Many physics educators seek to improve their courses but feel constrained by traditional post-secondary structures and norms. Instructors often perceive a false tension between fostering inclusive learning environments and maintaining the rigor central to the discipline. The Effective Practices for Physics Programs (EP3) Guide synthesizes decades of research-based recommendations for improving physics education. However, it offers limited guidance on how to integrate these diverse recommendations into a coherent, course-level approach—a responsibility that falls to individual instructors, whose graduate training prepared them primarily as researchers rather than as educators. This paper begins by motivating and introducing the Practicing Professionalism Framework (PPF), …


Investigating The Relationship Between Noun Classes And Plant Folk Taxonomy In Chasu Language Of Kilimanjaro Region In Tanzania, Peter Rabson Mziray Nov 2025

Investigating The Relationship Between Noun Classes And Plant Folk Taxonomy In Chasu Language Of Kilimanjaro Region In Tanzania, Peter Rabson Mziray

Journal of Humanities and Social Sciences

The current study investigates the relationship between noun classes and plant folk taxonomy in Chasu (G 22). The study focuses on two objectives: the first objective is to describe the plant folk taxonomy in Chasu and the second objective is to determine the relationship between noun classes and plant folk taxonomy in Chasu. Data were collected from rural villages in Same and Mwanga districts by using free listing, field interviews (jungle-walk-and-identify), and written texts containing Chasu plant names. The findings reveal that Chasu folk taxonomy reflects different ethnobotanical categories; including a unique beginner which is mmea/mimea ‘plant(s)’, and three life …


Copyright Information Sep 2025

Copyright Information

Journal of Science Education for Students with Disabilities

Publication rights to works is granted to Journal of Science Education for Students with Disabilities, however, full copyright for works published in this journal is retained by the author(s). The author(s) may post their works online in an institutional repository, on their University departmental website, or on their own personal websites.


Characterization Of Undergraduate Biology Instructors’ Goals And Strategies For Implementing Quantitative Reasoning, Anum Khushal Aug 2025

Characterization Of Undergraduate Biology Instructors’ Goals And Strategies For Implementing Quantitative Reasoning, Anum Khushal

School of Natural Resources: Dissertations, Theses, and Student Research

Quantitative reasoning (QR) is the application of mathematics and statistics to real-life and scientific contexts. It is essential for understanding complex biological phenomena and analyzing large datasets in both academic and professional settings. In response to the growing demand for QR skills, biology educators and researchers have engaged in curricular reforms and education research. This qualitative study explores how undergraduate biology instructors integrate QR into their teaching using a framework informed by pedagogical content knowledge (PCK) and QR. The study involved 21 biology faculty from various U.S. institutions who intentionally incorporated QR in their instruction. Data was collected through semi-structured …


Examining The Influence Of Vision And Change And A Mentoring Network On Teaching Philosophies And Strategies, Stephanie Mathews, Carlos C. Goller, Michael J. Wolyniak, Uma Swamy, Anjali Misra, Michael E. Moore, Jeremy L. Hsu, Dina L. Newman May 2025

Examining The Influence Of Vision And Change And A Mentoring Network On Teaching Philosophies And Strategies, Stephanie Mathews, Carlos C. Goller, Michael J. Wolyniak, Uma Swamy, Anjali Misra, Michael E. Moore, Jeremy L. Hsu, Dina L. Newman

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

The 2011 report Vision and Change: A Call to Action (V&C) resulted from a national effort to rethink biology curriculum. V&C outlines core concepts and core competencies for biology undergraduates and promotes evidence-based pedagogy, undergraduate research, and inclusive practices. However, it is unclear how much biology educators know about V&C and what motivates educators’ development of their teaching philosophy and practices. We leveraged the Promoting Active Learning and Mentoring (PALM) Network, a group that introduced evidence-based instructional practices (EBIPs) to instructors through mentoring, journal clubs, and a community of practice, to investigate how much V&C has influenced educator …


Leveraging Artificial Intelligence In Education To Drive Cross-Sector Innovation, Brent Terwilliger, John Faraca May 2025

Leveraging Artificial Intelligence In Education To Drive Cross-Sector Innovation, Brent Terwilliger, John Faraca

Publications

As artificial intelligence (AI) reshapes educational practices, particularly in technical fields such as uncrewed systems, robotics, and aviation/ aerospace, its integration raises promise and complexity. This exploratory study features an investigation of the impact AI tools adoption has on instruction, curriculum support, and workforce preparation, with a focus on online learning environments. Drawing from pilot survey data across aviation and aerospace education stakeholders and hands-on evaluation of AI video production platforms, findings reveal diverse applications, perceived benefits, and critical concerns, including ethical, pedagogical, and institutional challenges. Additionally, the analysis explored how AI-enabled education intersects with broader industry and government innovation …


A Novel Surgical Technique For The Management Of Recurrent Thyroglossal Duct Cysts Using Dakins Solution Packing, Jay Szekely, Meghan Tracy, Janelle R. Noel-Macdonnell, Elie Khalifee May 2025

A Novel Surgical Technique For The Management Of Recurrent Thyroglossal Duct Cysts Using Dakins Solution Packing, Jay Szekely, Meghan Tracy, Janelle R. Noel-Macdonnell, Elie Khalifee

Research Days

Background: Thyroglossal duct cyst (TGDC) is the most common congenital midline neck anomaly occurring in 7% of the population more commonly in infants or adolescents with no predilection to sex. [1] This anomaly consists of epithelial remnants due to failure of obliteration of the thyroglossal duct, a structure that forms as the thyroid gland originates at the foramen cecum of the tongue and is displaced caudally, anterior to or through the hyoid bone, towards its final position in the lower neck. Successful surgical management of TGDCs requires complete removal of the cyst and the duct. Initial surgery for these lesions …


Time From Triage To Imaging In Stroke Activations At Children’S Mercy Hospital, Annie Altschul, Marcie Files, Jennifer Flint, Brooke Fridley Phd May 2025

Time From Triage To Imaging In Stroke Activations At Children’S Mercy Hospital, Annie Altschul, Marcie Files, Jennifer Flint, Brooke Fridley Phd

Research Days

Background: Stroke affects 2-3 per 100,000 children annually. Timely diagnosis is vital to provide the highest quality care to pediatric stroke patients. Features that contribute to delays in diagnosis of pediatric stroke include complex or subtle signs and symptoms, limited exams in young children, broad differential and frequent stroke mimics, low awareness in the community, and sedating or paralytic medication use in critically ill children. The establishment of stroke activation protocols for children has led to improvements in care for pediatric stroke across numerous centers, expediting time to imaging and treatment.

Objective: We aimed to quantify the time …


But, It's Just A Uti, Gillian Long May 2025

But, It's Just A Uti, Gillian Long

Research Days

A case report of a 12 year old female presenting to the emergency room with rash, hematuria and shortness of breath, ultimately found to have a life changing diagnosis.


What Happens After They Leave The Ed? Following Up Acute Asthma Exacerbations After Changes In Clinical Practice Guidelines For Treatment, Phillip S. Wozniak, Jade B. Tam-Williams May 2025

What Happens After They Leave The Ed? Following Up Acute Asthma Exacerbations After Changes In Clinical Practice Guidelines For Treatment, Phillip S. Wozniak, Jade B. Tam-Williams

Research Days

In 2022, Children’s Mercy Hospital (CMH) implemented a new clinical practice guideline (CPG) recommending single-dose dexamethasone as the first line oral steroid for treatment of mild to moderate acute asthma exacerbations. We assessed the impact of this CPG change on readmission rates after discharge from emergency department/urgent care (ED/UC). We hypothesized that single-dose dexamethasone would be non-inferior to a 5-day course of prednisone/prednisolone with respect to 7-day and 30-day acute care readmission rates and need for additional outpatient steroid courses.


Bilateral Buccal Myomucosal Flap Palatoplasty For The Management Of Velopharyngeal Dysfunction In Children, Jay Szekely, Meghan Tracy, Janelle R. Noel-Macdonnell, Jill M. Arganbright May 2025

Bilateral Buccal Myomucosal Flap Palatoplasty For The Management Of Velopharyngeal Dysfunction In Children, Jay Szekely, Meghan Tracy, Janelle R. Noel-Macdonnell, Jill M. Arganbright

Research Days

Background: The use of bilateral myomucosal buccal flap palatoplasty (BMBFP) for velopharyngeal insufficiency (VPI) has increased in popularity. Despite the increasing popularity, there is a paucity in research examining their outcomes, especially in reference to the pediatric population.

Objectives/Goal: The objective of this paper was to investigate the utility of BMBFP for the correction of VPI in children.

Methods/Design: Retrospective chart review was performed using CPT codes to locate patients with BMBFP performed at our pediatric institution between July 2020 to July 2024. Data collected included demographics, associated syndromes, complications, pre-operative and post-operative resonance outcomes, and the need for revision …


Posterior Pharyngeal Flap For The Management Of Velopharyngeal Dysfunction: Comparing Outcomes For Children With 22q11.2 Deletion Syndrome To Those Without, Jay Szekely, Meghan Tracy, Janelle R. Noel-Macdonnell, Jill M. Arganbright May 2025

Posterior Pharyngeal Flap For The Management Of Velopharyngeal Dysfunction: Comparing Outcomes For Children With 22q11.2 Deletion Syndrome To Those Without, Jay Szekely, Meghan Tracy, Janelle R. Noel-Macdonnell, Jill M. Arganbright

Research Days

Introduction (including objectives): Velopharyngeal dysfunction (VPD) is one of the most common clinical features of 22q11.2 deletion syndrome (22q11.2DS) and often requires surgical intervention; due to the multifactorial nature of VPD, these patients present unique and often complex surgical challenges. Prior studies have generally demonstrated poorer speech outcomes postoperatively in children with 22q11.2DS. The posterior pharyngeal flap (PPF) is often considered first-line surgical choice for correction of VPD in children with 22q11.2DS. The aim of this study is to compare PPF outcomes for children with 22q11.2DS to those without.

Methods: Retrospective review for pediatric patients diagnosed with VPI who underwent …


Novel Rpl30 Variant In Diamond Blackfan Anemia Demonstrates Early Impact On Erythroid Differentiation With Downregulated Gata1-Hsp70, Alexandra Prosser-Dombrowski, Irina Pushel, Jacqelyn Nemechek, Priyanka Kumar, Jay L. Vivian, Jennifer Gerton, John M. Perry May 2025

Novel Rpl30 Variant In Diamond Blackfan Anemia Demonstrates Early Impact On Erythroid Differentiation With Downregulated Gata1-Hsp70, Alexandra Prosser-Dombrowski, Irina Pushel, Jacqelyn Nemechek, Priyanka Kumar, Jay L. Vivian, Jennifer Gerton, John M. Perry

Research Days

Background: Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome caused by ribosomal protein gene mutations leading to apoptosis of erythroid progenitors. We identified a novel heterozygous variant (c.167+769C>T) in the noncoding region of RPL30 in a patient diagnosed with DBA.

Objectives/Goal: We hypothesized that this variant stunts erythroid differentiation at the proerythroblast stage and is pathogenic for DBA.

Methods/Design: We developed an induced pluripotent stem cell (iPSC) model with a wild type (WT) and three CRISPR-Cas9 edited RPL30 mutant clones. iPSCs were differentiated into hematopoietic stem cells, which were assessed by flow cytometry and single cell …