About
My group works to discover and understand the functions of genes underlying the onset and progression of osteoarthritis and other bone and joint diseases. We use a combination of approaches including human genetics, bioinformatics, and model organisms (zebrafish and mouse) to elucidate the molecular and biological mechanisms that lead to changes in the synovial joint and contribute to the disease phenotype.
Research topics
- Political Science
- Computer Science
- Social Science
- Sociology
- Business
- Medicine
- Public relations
- Nursing
- Data science
- Physics
- Psychology
- Criminology
- Marketing
Selected publications
JMIR Aging · 2025-06-10 · 1 citations
articleOpen accessBackground: Interventions that are self-administered and delivered online are increasingly being seen as a flexible way to support family caregivers. Intervention research should prioritize the measurement of feasibility throughout all of the stages of intervention development and evaluation to provide the essential feedback loop needed for the iterative development and refinement process. Objective: We describe the methodology and data used to assess the feasibility, usability, and acceptability of the Time for Living and Caring (TLC) intervention, a technology-delivered intervention (app) for dementia caregivers to improve respite time use. Methods: The feasibility analysis is theoretically guided by a multidimensional definition of feasibility and uses a mixed-methods research design. Stakeholder feedback collected via focus groups during intervention development (n=15), self-reported surveys from participants enrolled in the pilot trial of the intervention (n=163), surveys of a nationwide sample of respite providers (n=57), and end-user statistics, captured passively by Google Analytics from those using the app, were used in the feasibility analysis of the TLC intervention. Results: The TLC study used an appropriate design and data collection procedures, along with acceptable recruitment capability. Out of 5 intervention features, 4 received favorable ratings (range of 82%-99%) by intervention participants and respite providers, which, when combined with open-ended recommendations for improvements, indicate a high degree of usability. Acceptability was measured through appraisal of the intervention experience (135/159, 85% positive), potential future use (127/163, 78%), willingness to recommend (148/163, 91%), and perceived benefit (135/163, 83%). Conclusions: Taken together, the data suggest that the TLC app is a promising intervention that could be implemented as an on-demand resource for respite-using caregivers, irrespective of where they are located or when they choose to access it. Additionally, this paper provides a blueprint for systematically evaluating multiple dimensions of feasibility, using various forms of mixed-methods data collected during intervention development and pilot testing of an intervention, which should help streamline the eventual implementation of effective interventions in real-world settings.
Community engagement during COVID: A field report from seven CTSAs
UNC Libraries · 2025-05-24
articleOpen accessINTRODUCTION: Prior to the COVID pandemic, many CTSAs employed face-to-face interactions to conduct most of their community engagement (CE) activities. During the COVID pandemic, such engagement had to be curtailed and alternatives needed to be formulated. In addition, Community Engaged Research (CEnR) teams refocused their efforts to address this public health crisis. METHODS: To obtain a general understanding of how CTSAs have conducted CE and CEnR during the COVID pandemic, we invited seven CTSA CE leaders to provide brief field reports of their activities during the pandemic. This included how their approaches to CE and CEnR were modified during the COVID-19 pandemic and key lessons learned. RESULTS: We found that despite numerous challenges, all seven CTSAs CE cores were able to successfully carry out CE and CEnR. We also found that the fundamental principles of meaningful and authentic stakeholder engagement were of paramount importance during the pandemic. Through virtual approaches, all sites had considerable success in maintaining CE in during the COVID pandemic. They also leveraged existing bi-directional community partnerships to carry out meaningful and impactful research. This included both new COVID CEnR and also innovative approaches to sustain prior non-COVID research. CONCLUSIONS: These findings suggest that academic-community partnerships must be fostered and sustained over the many years so that when such crises emerge, all partners can build on existing trust and mutual respect. The lessons learned and the new tools and approaches developed would be key in addressing any such future public health emergencies.
2025-01-26
preprintOpen access<sec> <title>BACKGROUND</title> Interventions that are self-administered and delivered online are increasingly being seen as a flexible way to support family caregivers. Respite, defined as a planned break or time away from caregiving, is among the most needed and requested forms of caregiver support; yet, few caregiver interventions address caregivers’ use of respite. </sec> <sec> <title>OBJECTIVE</title> We describe the methodology and data used to assess the feasibility, usability, and acceptability of the Time for Living and Caring (TLC) intervention; a technology delivered intervention (app) for dementia caregivers to improve respite time use. </sec> <sec> <title>METHODS</title> This study’s evaluation effort is theoretically guided by a multidimensional definition of feasibility and employs a mixed-methods approach for feasibility analysis. Stakeholder feedback collected via focus groups during the intervention development (n=15), self-reported surveys from participants enrolled in the pilot trial of the intervention (n=163), surveys of a nationwide sample of respite providers (n=57), and end-user statistics, captured passively by Google Analytics from those using the app, were used in the analysis of the TLC intervention feasibility. </sec> <sec> <title>RESULTS</title> Data and metrics, overall, show high rates of feasibility for the TLC online intervention. Favorable ratings of intervention features ranged from 83-99%, which, when combined with open-ended recommendations for improvements, indicate a high degree of usability. Acceptability was measured through appraisal of the intervention experience (85% positive), potential future use (78%), willingness to recommend (91%), and perceived benefit (> 80%). </sec> <sec> <title>CONCLUSIONS</title> Taken together, these data suggest that TLC is a promising intervention that could be implemented as an on-demand resource for respite-using caregivers irrespective of where they are located or when they choose to access it. Additionally, this paper provides a blueprint for systematically evaluating multiple dimensions of feasibility, using various forms of mixed-methods data collected during intervention development and pilot-testing of an intervention, which should help streamline the eventual implementation of effective interventions in real-world settings. </sec> <sec> <title>CLINICALTRIAL</title> ClinicalTrials.gov NCT03689179 </sec>
Women s Health Issues · 2025-12-30
articleOpen accessBACKGROUND: Congenital cytomegalovirus (cCMV) is the most common transplacental infection and the leading cause of nongenetic sensorineural hearing loss, and it can cause intellectual disability and psychomotor delay. Despite its prevalence and consequences, it is less well known than other childhood diseases. The purpose of this study was to assess educational materials for cCMV and to examine whether these materials increased pregnant patients' awareness, knowledge, and reported behaviors related to cCMV risk reduction and oral exposures. The secondary objectives were to compare the effectiveness of written and video educational materials and remote and in-person education. METHODS: Pregnant patients (N = 136) were randomized into a print (n = 76) or video (n = 60) educational intervention. Some (n = 73) participants received the education remotely via e-mail after their clinic visit; others (n = 63) received it in person at the clinic. Participants completed a survey assessing appraisals of the education materials and their awareness, knowledge, and reported oral exposure and risk reduction behaviors surrounding cCMV before and approximately 1 month after receiving the education. RESULTS: Knowledge of cCMV in both educational groups significantly improved, but video education was significantly more effective than print. Remote education was more effective than in-person education. Despite gains in knowledge, reported risk reduction behaviors and oral exposure behaviors did not improve. Perceptions of ease of implementation were related to greater reported risk reduction behaviors and fewer oral exposures after education. CONCLUSIONS: Simple educational materials can improve knowledge of cCMV during pregnancy, but more intensive intervention may be needed to change behaviors, especially for individuals who experience barriers to implementing risk reduction behaviors.
Journal of Health Care for the Poor and Underserved · 2024-02-01 · 2 citations
articleOpen accessOBJECTIVES: This study evaluated how high versus low-intensity community wellness coaching and health behaviors were associated with changes in depression screen results over one year. METHODS: This was an analysis of secondary data collected in a 12-month obesity-related community health worker (CHW) program for 485 Utah women of color. Depression screen (Patient Health Questionnaire-2 score ³3) and self-reported fruit/vegetable consumption and physical activity (FV/PA) were recorded quarterly. Associations between FV/PA and changes in depression screen over time were evaluated in multivariable models. RESULTS: Positive depression screen prevalence declined over 12 months (21.7% to 9.5%) with no difference between study arms. Overall, FV ³5 times/day (AOR=1.5; 95% CI 1.0-2.2), any PA (AOR=3.1; 95% CI 1.5-6.4), and muscle strengthening activities (AOR=1.13; 95% CI 1.01-1.26) were associated with improved depression screen results over time. CONCLUSION: These results indicate value in addressing and evaluating depression in obesity-related interventions in underserved communities.
Global Advances in Integrative Medicine and Health · 2024-01-01 · 5 citations
articleOpen accessBackground: Individuals with a uterus experience menopause, the cessation of menses, on average at age 51 years in the United States. While menopause is a natural occurrence for most, over 85% of women experience multiple interfering symptoms. Menopausal women face health disparities, including a lack of access to high-quality healthcare and greater disparities are experienced by women who are black, indigenous, and people of color. Some women are turning away from hormone therapy, and some seek integrative health interventions. Objective: Some menopausal women who seek healthcare do not receive it as they lack access to medical and integrative healthcare providers. A potential solution to this problem is a medical group visit (MGV), during which a provider sees multiple patients at once. The aims of this study were to gather women's opinions about the menopause, provider access, and conventional and integrative health interventions for later use to develop a menopause MGV. Methods: We conducted a Community Engagement Session and a Return of Results (RoR) with midlife women to learn about their menopause experiences, barriers and facilitators to accessing health providers, and their interest in and suggestions for designing a future integrative MGV (IMGV). Thematic qualitative research methods were used to summarize session results. Results: Nine women participated in the Session and six attended the RoR. Participants were well-educated and diverse in race and ethnicity. Themes included: an interest in this topic; unfamiliar medical terms; relevant social factors; desired whole person care; interest in integrative health; barriers and facilitators to accessing healthcare. The group expressed interest in ongoing participation in the future process of adapting an IMGV, naming it MENOGAP. Conclusion: These findings highlight the importance of stakeholder engagement before designing and implementing MENOGAP and the great need among midlife women for education about the menopausal transition, integrative self-care, and healthcare.
Contemporary Clinical Trials · 2024-03-29 · 8 citations
articleOpen accessResearch for all: building a diverse researcher community for the <i>All of Us</i> Research Program
Journal of the American Medical Informatics Association · 2024-11-14 · 10 citations
articleOpen accessOBJECTIVES: The NIH All of Us Research Program (All of Us) is engaging a diverse community of more than 10 000 registered researchers using a robust engagement ecosystem model. We describe strategies used to build an ecosystem that attracts and supports a diverse and inclusive researcher community to use the All of Us dataset and provide metrics on All of Us researcher usage growth. MATERIALS AND METHODS: Researcher audiences and diversity categories were defined to guide a strategy. A researcher engagement strategy was codeveloped with program partners to support a researcher engagement ecosystem. An adapted ecological model guided the ecosystem to address multiple levels of influence to support All of Us data use. Statistics from the All of Us Researcher Workbench demographic survey describe trends in researchers' and institutional use of the Workbench and publication numbers. RESULTS: From 2022 to 2024, some 13 partner organizations and their subawardees conducted outreach, built capacity, or supported researchers and institutions in using the data. Trends indicate that Workbench registrations and use have increased over time, including among researchers underrepresented in the biomedical workforce. Data Use and Registration Agreements from minority-serving institutions also increased. DISCUSSION: All of Us built a diverse, inclusive, and growing research community via intentional engagement with researchers and via partnerships to address systemic data access issues. Future programs will provide additional support to researchers and institutions to ameliorate All of Us data use challenges. CONCLUSION: The approach described helps address structural inequities in the biomedical research field to advance health equity.
Frontiers in Genetics · 2024-07-24
articleOpen accessGenetic variability persists across diverse populations, and it may impact the characterization of heritable diseases in different ancestral groups. Cystinosis is a metabolic disease caused by pathogenic variants in the CTNS gene causing the cellular accumulation of cystine. We attempted to assess the currently poorly characterized prevalence of cystinosis by employing a population genetics methodology. However, we encountered a significant challenge due to genetic variations across different populations, and the consideration of potential disparities in access to healthcare made our results inconclusive. Pathogenic CTNS variants were identified in a representative global population cohort using The Human Gene Mutation Database (HGMD) and the 1000 Genomes (1 KG) database. The c.124G&gt;A (p.Val42Ile) variant was reported to be pathogenic based on an observation in the white population presenting with atypical phenotypes, but it would be reclassified as benign in the African ancestral group if applying the ACMG allele frequency guideline due to its high allele frequency specifically in this population. Inclusion or exclusion of this c.124G&gt;A (p.Val42Ile) variant results in a significant change in estimated disease prevalence, which can impact the diagnosis and treatment of affected patients with a broad range of phenotypic presentations. This observation led us to postulate that pathogenic manifestations of the disease may be underdiagnosed due to variable expressivity and systemic inequities in access to care, specifically in the African subpopulation. We call for a more cautious and inclusive approach to achieve more equitable care across diverse populations.
Communications Biology · 2024-06-10
erratumOpen accessCorrection to: Communications Biology 10.1038/s42003-023-05708-y, published online 19 February 2024 The data availability statement was incorrectly given as “All sequencing data used in this study are available on the All of Us Researcher Workbench in the v7 release.” but should have been “All sequencing data used in this study are available on the All of Us Researcher Workbench in the v6 release”. The original Article has been corrected.
Recent grants
Building High School Students' Understanding of Evolution
NSF · $3.1M · 2014–2019
Engaging All of Us for Effective Precision Medicine
NIH · $9.4M · 2019–2024
NIH · $1.7M · 2011
Frequent coauthors
- 23 shared
Jeffrey R. Botkin
University of Utah
- 18 shared
Erin Rothwell
University of Utah
- 16 shared
Dina Drits-Esser
University of Utah
- 14 shared
Bob Wong
- 13 shared
Ana Sanchez-Birkhead
University of Utah
- 13 shared
Aaron J. Goldenberg
University School
- 12 shared
Molly Malone
University of Utah
- 12 shared
Fahina Tavake-Pasi
University of Utah
Labs
Education
- 2001
Ph.D., Program Evaluation
Western Michigan University
- 1999
Ph.D., Science Education
University of Colorado
- 1992
Ph.D, Evolutionary Genetics
University of Colorado
- 1979
B.S., Biology
Grand Valley State University
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