Digital Commons Network^™

Job Satisfaction, Burnout, And Intent To Stay In Neonatal Nursing In England And Wales: A Cross-Sectional Survey Study, Kathy Chant, Yoko Nishimura, Aviva Petrie, Jos M. Latour, Nicola Booth, Kelly Crofts, Lisa Viola, Katie Gallagher

School of Nursing and Midwifery

Objective: To explore job satisfaction, burnout and intent to stay in neonatal nurses in England and Wales. Methods: A cross-sectional online survey study using the McCloskey Mueller Satisfaction Scale (MMSS) to explore job satisfaction, the Copenhagen Burnout Inventory (CBI) to explore burnout and the Nurse Retention Index (NRI) to measure intent to stay. All neonatal nurses working in England and Wales were eligible to take part. Data were collected between February and September 2024. Results: A total of 1590 neonatal nurses completed the survey. Job satisfaction was neutral. Moderate work burnout was reported, with statistically significant differences in mean score …

Psychotropic Medication Prescribing To Children And Young People Mental Health Inpatient Services: An English National Study, David Branford, Anne Webster, Marinos Kyriakopoulos, Shermin Imran, Prathiba Chitsabesan, Tina Irani, Teresa Randon, Kirsten Peebles, Rohit Shankar

Peninsula Medical School

Background:Mental disorders frequently begin in childhood or adolescence. Worldwide, psychotropics are commonly prescribed for under-18s to stabilise behaviour, mood or thoughts. Psychotropics could cause long-term effects on children and young people (CYP) health, growth and development. There is a knowledge gap about psychotropic prescribing in CYP mental health inpatient units.Aims:To understand and compare psychotropic prescribing patterns in England mental health inpatient units for CYPs and to solicit CYP and their parents’ and carers’ views of it.Method:A national Quality Improvement programme authorised by National Health Service (NHS) England invited all English CYP mental health inpatient units to participate. The programme included …

Never Cool Enough: Legal And Policy Challenges To Keeping Data Centers And Communities Empowered In A Warming World, Cristina M. Banahan, Diana B. Wilkinson

Lewis & Clark Law Review

In a rapidly evolving world, artificial intelligence (AI) and cryptocurrency are two technologies at the forefront of the future. Although these developments promise many potential societal benefits and revenue, they come with a price. The data processing required to operate these new technologies demands a large amount of energy, using water to cool the systems and enable them to run without overheating. With such high water and energy demands, the benefits from these technological advancements come at a steep environmental cost. Despite the negative environmental impacts of these data centers, the Trump Administration continues to roll back environmental protections. The …

Quo Warranto In The Aftermath Of Loper Bright, Dennis Hall

Lewis & Clark Law Review

In 2024, the Supreme Court did away with Chevron deference in Loper Bright Enterprises v. Raimondo. One previously undiscussed consequence of this decision is how it opens the door to a broader use of quo warranto corporate charter revocation. Quo warranto is a legal remedy held by the states that has fallen into relative obscurity, but it has the power to regulate large corporations that have strayed from the bounds of acceptable activity. This Comment examines the history of corporations and corporate oversight regulation in the United States, as well as the history of quo warranto as a remedy. Additionally, …

Regulated Victimization: The Rise Of Human Trafficking Within The Oregon Massage Industry, Hannah Beaulieu

Lewis & Clark Law Review

Illicit massage businesses are massage spas that appear to operate as legitimate businesses but facilitate commercial sex acts behind closed doors. Recent law enforcement investigations in Oregon have revealed that some illicit massage businesses have facilitated the human trafficking of multiple victims. The illicit massage industry has steadily grown across the country but has especially boomed in recent years in Oregon. This Note investigates how the illicit massage industry has evolved to be so prevalent in our communities and what factors have contributed to the growth. It goes on to recommend ways to protect victims, to prevent further harm, and …

The Sec And Climate Litigation, Lisa Benjamin

Lewis & Clark Law Review

The controversy surrounding the SEC’s climate-related financial disclosure rule continues. This Essay updates my previous work on this issue, where I identified two opportunities and two obstacles to the SEC promulgating final rules on climate-related financial risk disclosures. The two opportunities were a shifting political landscape under the then-Biden Administration (which took a whole-of-government approach to addressing the climate crisis) and rising investor concern over the risks that climate change posed to their investments. The two obstacles I identified were business resistance to disclosure rules, and rising judicial hostility to the SEC. Today, the political landscape has shifted dramatically and …

A Strategic Approach To “E”Sg Reporting, Taylor Nchako

Lewis & Clark Law Review

Environmental, Social, and Governance (ESG) factors have emerged as an important investment tool for the financial sector to address climate change. While the federal government has abandoned ESG disclosure, U.S. firms still face reporting obligations domestically and abroad. States across the country have proposed or passed two types of disclosure laws: greenhouse gas emissions disclosure and climate risk disclosure. These state-level efforts mirror actions in the European Union, Canada, and other jurisdictions in which U.S. firms operate.

As ESG disclosure standards are adopted in jurisdictions around the world, these standards are undergoing various advancements, reductions, and contestations. These shifts in …

Life Cycle Assessment Of Marine Composite Recreational Craft Manufacturing And Operations, Badr Moutik

School of Engineering, Computing and Mathematics Theses

Marine composite recreational craft are growing in number. Sectoral roadmaps for sustainable development are increasing pressure to demonstrate life cycle environmental performance. Life cycle assessment (LCA) has been identified as a key strategic decision support tool. However, current practice is undermined by sparse, non-representative data and methodological inconsistencies. These weaknesses increase the risk of biased or misleading interpretation, constrain wider uptake of LCA, and limit the sector’s ability to respond credibly to tightening environmental sustainability expectations. This thesis assesses the cradle-to-grave environmental impacts of a market-representative glass-fibre reinforced plastic (GRP) motor yacht across 16 impact categories. The research builds on …

Mapping The Uk Commercial Fishing Network: A Knowledge-Based Framework For Sustainable Technology Adoption And Environmental Decision-Making, Matthew Prowse

School of Engineering, Computing and Mathematics Theses

The UK commercial fishing industry operates within a complex web of stakeholders, technologies, and environmental pressures that challenge traditional approaches to sustainability and resource management. This research develops a comprehensive framework for understanding how technological advancement in UK fisheries creates unintended consequences that threaten long-term sustainability. Through a mixed-methods approach combining PESTLE analysis, grounded theory methodology, stakeholder mapping, case study investigation, this study introduces the "By-Product and Excess" theoretical framework to explain how fishing technologies generate two critical outcomes: by-products (undesirable environmental impacts such as CO₂ emissions, microplastics, and ecosystem damage) and excess (enhanced capacity to harvest beyond sustainable limits).The …

Staphylococcus Aureus Strain Heterogeneity Modulates Virulence Traits Associated To Dual-Species Biofilms With Candida Albicans, Laure Nicolas Annick Ries, Beata Adrienn Brezniczky, Binduja Srelatha Pradeep, Esther Olabamiji, Lee Hutt, Glenn M. Harper, Alexander Strachan, Gyorgy Fejer

School of Biomedical Sciences

Staphylococcus aureus is a commensal Gram-positive bacterium and opportunistic pathogen that exhibits substantial variation in antimicrobial resistance and virulence traits. S. aureus is frequently co-isolated with the fungus Candida albicans, and together they represent the most common microorganisms recovered from biofilm-associated infections originating from both biotic and abiotic surfaces. Despite this clinical relevance, the impact of bacterial intra-species variation on interkingdom interactions remains poorly understood. This study therefore investigated how S. aureus strain heterogeneity influences C. albicans within dual-species biofilms. The majority of the 60 S. aureus strains tested suppressed fungal growth in a contact-dependent manner across different nutrient conditions …

Making The Implicit Explicit: Leadership In Primary Care Dental Practice, Sally Hanks, Debby R.E. Cotton

Peninsula Dental School

Objectives: This paper reports on research aimed at understanding leadership activities in primary care dental practice, an under-explored area within the extant literature. Methods: The research employed a qualitative, exploratory paradigm, using Video Reflexive Ethnography (VRE) and Activity Theory (AT) to capture the lived experiences of seven participating dentists. Results: The research outlines the ways in which dentists demonstrate leadership skills in their daily work, identifying three interacting activity systems that define leadership in this setting: Patient Care (PC), Running the Surgery (RS), and Running the Practice (RP). Findings emphasise that leadership is directly related to patient care and is …

A Pilot Study Assessing The Oral Microbiome In Women Of Menopausal Age: Do Oral Nitrate–Reducing Bacteria Play A Role?, Katie Muddiman, Amazon Doble, Abish Stephen, Raul Bescos Garcia, Charlotte Illsley, Tomas Nicholas, Sally Hanks, Lisa Du Toit, Zoe Brookes

Peninsula Dental School

Introduction The links between oral health and female ageing are poorly understood, but many changes occur in the oral cavity of menopausal women that affect quality of life, and few current oral health interventions consider gender as part of their approach. The aim of this pilot study was to test the hypothesis that the oral microbiome and microenvironment change during female ageing and are thus worthy of further consideration both experimentally and clinically. Methods This observational pilot study retrospectively assessed women aged 18 to 89 years (n = 60) attending a UK primary care dental school facility for blood pressure …

Training Healthcare Professionals To Deliver A Group-Based Intervention For People Living With Severe Obesity: Lessons From The Progroup Feasibility Trial, Shokraneh Moghadam, Mark Tarrant, Lily Hawkins, Dawn Swancutt, Rod Sheaff, Laura Hollands, Raff Calitri, Jonathan Pinkney, Jenny Lloyd

School of Psychology

Introduction: Group-based programmes are increasingly adopted to support people living with obesity, as they have the potential to reduce staff time and costs and enhance motivation and capability for behaviour change. Group-based programmes could also provide members with opportunities to form meaningful social connections. As such, training should equip healthcare professionals to deliver group interventions successfully and be accessible and feasible for them to complete. This study presents how mixed-methods process evaluation data from the feasibility randomised controlled trial of PROGROUP (a group-based weight management intervention for people living with severe obesity) informed optimisation of the PROGROUP training programme. Methods: …

Degrees Of Separation: Grandchildren's Experiences Of Grandparental Brain Tumor Or Stroke, Emily Sapsford, Alyson Norman, Sue Jackson, Josh Deacon, Emily Ravenhill, Pete Keohane

School of Psychology

The impact of acquired brain injury on family members is far reaching. Research has identified experiences of trauma, ambiguous loss and burden of care. Limited research has addressed the ripple effect of brain injury across the wider family. The study aimed to gain a detailed insight into the lived experiences of grandchildren of those who have experienced stroke or brain tumor. Ten participants (eight female and two males aged between 18 and 29) took part in semi-structured interviews about their experiences of grandparental stroke or brain tumor. Data were analyzed using interpretive phenomenological analysis (IPA). Four themes were identified. The …

Lower Suicidal Ideation Linked To Easier Access To Urban Green Spaces During The Covid-19 Pandemic: A Nationwide Study In Japan, Zheng Xian, Tomoki Nakaya, Clive E. Sabel, Ryo Okubo, Kun Liu, Jinguang Zhang, Takahiro Tabuchi

School of Geography, Earth and Environmental Sciences

Urban green spaces (UGSs) have been linked to improved mental health and lower suicide rates, yet their protective role during large-scale crises remains underexplored. We examined associations of UGS accessibility with long-term and pandemic induced new-onset suicidal ideation during the early phase of the COVID-19 pandemic in urban Japan, using data from a nationwide health survey of 17,376 participants (August 2020). Modified Poisson regression models estimated prevalence ratios (PRs) for suicidal ideation by UGS accessibility (area, number, and type) within 5, 10, and 15-minute walking thresholds from home, controlling for individual and area-level confounders. UGS accessibility exhibited dose-response relationships with …

Direct And Indirect Metal Contamination Of Estuarine Sediments By Boat Paint Particles, Andrew Turner, Ho Kwan Cheung

School of Geography, Earth and Environmental Sciences

Surface and subsurface estuarine sediments close to a cluster of abandoned boats have been fractionated (between <250 and 5000 μm) and analysed microscopically for paint particles. Paints were encountered in all samples, with concentrations calculated for whole sediment samples up to 1450 per kg (dry weight). X-ray fluorescence (XRF) analysis of paint particles retained by the coarsest (>5000 μm) size fraction revealed heterogeneous concentrations of Ba, Cu, Pb, Sn and Zn that reflect pigments and antifoulants used in various recent and historical antifouling and above waterline boat paints. Analysis of sediments by XRF revelated heterogeneous distributions of these metals between locations, size fractions and depths, and among replicate measurements at different positions of the same sample. Consequently, no relationship with grain size (evaluated using Rb as a proxy) was evident and concentrations often greatly exceeded predicted effect levels for sediments. Re-analysis …

From Passive To Powerful: Creating Engaging Resident-As-Teacher Modules, Anna E Rueda, Stephanie V Sherman, Sherita J Love, Glenn C Bridges, Wesley A Mayer, Mark J Harbott, Teri L Turner, Bani M Ratan

Faculty and Staff Publications

Background: We aimed to design, implement, and evaluate three novel institutional resident-as-teacher (RAT) e-modules for postgraduate year (PGY) 1, 2, and 3 and compare them to previously utilized online trainings.

Methods: We utilized PICRAT, a model examining both students' relationship with technology (passive, interactive, creative) and instructors' use of technology (replaces, amplifies, or transforms) to create interactive experiences that amplified teaching methodologies. We compared evaluations of the previous and new trainings with an unpaired t test. New modules were assessed with one-way analysis of variance for specialty-based acceptability and content analysis of two open-ended questions.

Results: Response rates averaged 93.2% …

Does In-Bed Cycling Delivered Within 48 Hours Of Mechanical Ventilation, Reduce The Occurrence Of Delirium In Critically Ill Patients: A Mixed-Methods Feasibility Randomised Controlled Trial Protocol, Jacqueline Bennion, Mark Hudson, Mary Hickson, Victoria Allgar, Bridie Kent, David Mcwilliams, Daniel Martin

Peninsula Medical School

Background: Delirium is a severe neuropsychiatric clinical state presenting as an acute onset of cognitive deficits. Patients receiving invasive mechanical ventilation (IMV), have the highest incidence (50%–80%) of delirium amongst patients admitted to intensive care units. Preliminary data indicates that early mobilisation is associated with reduced delirium in critically ill patients. However, definitive evidence is lacking. Current practice varies due to many barriers to patients, who require IMV, receiving early mobilisation interventions. In-bed cycling may address some of these barriers. This research aims to evaluate the feasibility and acceptability of early in-bed cycling to reduce delirium in critically ill patients. …

Cerebellar Motor And Non-Motor Contributions To Dystonia Pathophysiology And Treatment, Linda H Kim, Cheryl Brandenburg, Roy V Sillitoe

Duncan NRI Faculty and Staff Publications

Dystonia is a complex neurological disorder characterized by sustained or intermittent abnormal movements and/or postures. However, dystonia's non-motor symptoms, particularly the sleep disturbances, are critical yet underexplored concerns that affect all ages. Here, we synthesize current knowledge on the motor and non-motor domains of dystonia, emphasizing the functional interconnections and plasticity within cerebellar motor, cognitive, and sleep-associated circuits to motivate more comprehensive and effective treatments that improve overall quality of life.

Organ Chips And Translational Research: Identifying And Examining New Ethical Issues, Melanie Jeske

Center for Medical Ethics and Health Policy Staff Publications

Organ chips, also known as organ-on-a-chip devices, tissue chips, or microphysiological systems, have emerged over the last decade as a promising translational technology amidst growing concern about the translational crisis between laboratory research and patient bedside. Pointing to high rates of failure between nonhuman animal models and safety and efficacy in humans, organ chips and similar new approach methods have attracted substantial public and private investment. As human-cell-based alternatives to animal models, organ chips promise more predictive, efficient, and ethical platforms for pharmaceutical and toxicity testing. Engineered cultivation systems that enable cells to assemble into tissue-like structures (e.g. kidney, brain, …

Putting The L In Elsi: Legal Methods For Bioethics Research, Anya E R Prince, Benjamin Berkman, Donald Ford, Dov Fox, Christi Guerrini, Amy Koopmann, Natalie Ram, Jessica L Roberts, Kayte Spector-Bagdady, Sonia Suter

Center for Medical Ethics and Health Policy Staff Publications

Lawyers and law professors are increasingly involved in interdisciplinary scientific teams and grant research to answer ethical, legal and policy questions related to biomedical topics. Yet, the methods that lawyers use to conduct legal research and analysis are not always familiar to scientists and social scientists conducting peer review of a proposed project with legal aims or a publication reporting a legal study. To better facilitate interdisciplinary ethical, legal, and social implications collaboration, there is a need to better explain how legal research methodologies can provide robust tools to address a range of nuanced biomedical questions. This paper explores …

Differences Between Government, Consortium, And Private Database Stewards Impacting The Genomic Data Market: A Survey Of U.S. Academic Genetic Researchers., Amanda K Greene, J Denard Thomas, Kaitlyn Jaffe, Luyun Chen, Kerry A Ryan, Brian J Zikmund-Fisher, J Scott Roberts, Amy L Mcguire, Katherine Hendy, Kayte Spector-Bagdady

Center for Medical Ethics and Health Policy Staff Publications

Background: Despite major shifts in U.S. federal government data sharing requirements, their impact, and relation to researcher choice of database, are underexplored. This study surveyed genetic researchers regarding trends, priorities, perceptions of quality, impact on research outcomes, and genomic data sharing and use across government, consortium, and private databases.

Methods: As part of an exploratory sequential mixed methods project, we surveyed 294 U.S.-based genomic academic researchers.

Results: Genetic researchers generally have a choice between databases, which allows them to prioritize data quality. This might explain recent trends toward the use of government and consortium databases away from private ones. Respondents …

Clinicians’ Views On A Patient Decision Aid For Deep Brain Stimulation In Parkinson’S Disease, Hillary S King, Jennifer Blumenthal-Barby, Benjamin H Levi, Sol De Jesus, Harini Sarva, Laura Y Cabrera

Center for Medical Ethics and Health Policy Staff Publications

Introduction: For people with Parkinson's disease (PD), deciding whether to pursue deep brain stimulation (DBS) has become increasingly complex. Evidence suggests current approaches to collaborative decision-making may fall short of accepted standards. Thus, a decision support intervention, such as a patient decision aid (PtDA) may be warranted. PtDAs have been shown to improve patients' knowledge, expectations, and participation in decision-making for other, similar healthcare decisions. We therefore sought to assess neurologists' awareness of, and experience using, PtDAs, and to solicit their opinions on the ideal features of a PtDA for PD patients considering DBS.

Methods: Sixteen United States-based neurology clinicians …

Anything But Endo: Diagnostic Buck-Passing In Endometriosis Diagnosis, Rita Dexter, Megan Kitts, Heather Welty, Melanie Jeske

Center for Medical Ethics and Health Policy Staff Publications

People living with endometriosis, a disease in which tissue similar to the lining of the uterus grows elsewhere in the body, often experience prolonged diagnostic journeys because of symptom variability, normalisation of period pain and other symptoms, and lack of awareness of the condition. In this article, we analyse the endometriosis diagnostic journey through the lens of epistemic injustice. Drawing on in-depth interviews with 52 people living with endometriosis in the United States, we introduce the concept of diagnostic buck-passing to characterise the phenomenon wherein individuals who seek treatment for their symptoms end up stuck in a cycle of seeing …

Can I Get A Witness? The Ethical Dimensions Of Family Presence In Patient Suffering, Jennifer Blumenthal-Barby, Trevor M Bibler, Holland Kaplan, Adam Omelianchuk, Joanna Smolenski

Center for Medical Ethics and Health Policy Staff Publications

For patients who are suffering, the bedside presence of a family member can provide comfort, and many people hold that there is moral value in being present with a conscious, suffering patient. Yet what is the moral significance of the absence of family members when a patient is minimally conscious or unconscious and not aware of their absence? Clinicians are often troubled when family members and surrogate decision-makers who are able to spend a significant amount of time at an unconscious, seriously ill patient's bedside do not do so. Clinicians feel frustrated that they must bear the burden of witnessing …

Toward Ethical Provenance Tracking: The Ga4gh Model Data Access Agreement (Daa), Alexander Bernier, Bartha Maria Knoppers, Jonathan Lawson, Robyn Mcdougall, Maili Raven-Adams, Vasiliki Rahimzadeh

Center for Medical Ethics and Health Policy Staff Publications

Purpose: Standardizing contractual clauses that govern data access enables research institutions to responsibly steward genomic and related health data while enabling its efficient downstream reuse.

Methods: We describe a document analysis study using both qualitative and comparative law analytical approaches to identify the most common categories of clauses from 29 different data access agreements used by human biomedical research consortia globally. We furthermore characterized the legal positions and standard practices for each common element of the agreement and synthesized across them to develop model clauses. A total of 3 discussion sessions were organized virtually to refine the clauses among members …

Access To Digital Health Technologies: Personalized Framework And Global Perspectives, Sanjiv M Narayan, Mina K Chung, Demilade Adedinsewo, Luisa C C Brant, Leslie L Davis, David Duncker, Jennifer L Hall, Janet K Han, Carolyn S P Lam, Eldrin Lewis, Joseph Loscalzo, Manlio F Márquez, Vasiliki Rahimzadeh, Fatima Rodriguez, Prashanthan Sanders, Emma Svennberg, Kenneth Stein, Mintu Turakhia, Clyde Yancy, Antonis A Armoundas

Center for Medical Ethics and Health Policy Staff Publications

The emergence and rapid adoption of digital health technologies (DHT) present unprecedented opportunities to democratize and reduce disparities in health care by monitoring health and disease at the point of care in all patients. However, limited access to DHT is becoming a major obstacle to realizing these goals. Access to DHT is influenced not only by well-recognized social determinants of health, but also by digital determinants of health, such as digital literacy and the need for broad access to digital infrastructure, as well as commercial and economic factors. Addressing these challenges and designing unbiased systems of care are essential to …

Imagining Genomics And Population Health In 2050: Anticipating Future Research, Policy, And Governance Needs, Bartha Maria Knoppers, Yann Joly, Ma Apos N H Zawati, Habiba Alsafar, Jeffrey C Barrett, Laura Blackburn, Brian Hon-Yin Chung, Martina C Cornel, Edward S Dove, David Glazer, Calvin Wai-Loon Ho, Muin J Khoury, Anna C F Lewis, Anneke Lucassen, Peter F R Mills, Colin Mitchell, Nicola Mulder, Ainsley J Newson, Anthony Ng, Paul D P Pharoah, Vasiliki Rahimzadeh, Megan C Roberts, Saskia C Sanderson, Jeffrey M Skopek, Ron Zimmern, Eric M Meslin

Center for Medical Ethics and Health Policy Staff Publications

No abstract provided.

Refining Aicardi Syndrome Diagnostic Criteria: An Expert-Based Consensus Using A Modified Delphi Approach, Silvia Masnada, Valentina De Giorgis, Umberto Carugo, Nadia Bahi-Buisson, Mara Cavallin, Mark Corbett, Manuela Formica, Jozef Gecz, Natalia Petros, Emilio Perucca, Anna Pichiecchio, Paolo Fusar Poli, Elliott H Sherr, Ignatia B Van Den Veyver, Federico Zara, Martin Geroldinger, Pierangelo Veggiotti, Alexis Arzimanoglou

Duncan NRI Faculty and Staff Publications

Background and objectives: Aicardi syndrome (AIC) is a rare neurodevelopmental disorder historically characterised by the presence of chorioretinal lacunae, corpus callosum agenesis, infantile spasms and several supporting features that aid in diagnosis. However, the unclear aetiology and evolving diagnostic tools have led to ongoing reconsideration of the criteria, based on individual approaches. Our study aimed to establish, for the first time, an expert-based consensus on diagnostic criteria for AIC by integrating both existing and novel ones.

Methods: A geographically diverse and multidisciplinary group of expert physicians was invited to participate in a modified Delphi study, to achieve consensus on major, …

Telethon Undiagnosed Disease Program: Structured Approach To Solving Rare Childhood-Onset Genetic Diseases, Annalaura Torella, Manuela Morleo, Carmine Spampanato, Raffaele Castello, Mariateresa Zanobio, Giulio Piluso, Pasquale Di Letto, Maria Elena Onore, Sarah Iffat Rahman, Francesco Musacchia, Michele Pinelli, Giuseppina Vitiello, Giulia De Riso, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Filippo Manti, Donatella Milani, Corrado Romano, Donatella Greco, Claudia Ciaccio, Stefano D'Arrigo, Arianna De Laurentiis, Antonietta Coppola, Marcella Zollino, Domizia Pasquetti, Federica Francesca L'Erario, Albina Tummolo, Claudia Santoro, Livia Garavelli, Carla Marini, Stefania Bigoni, Alfonsina Tirozzi, Viviana Cetrangolo, Giancarlo Parenti, Diego Di Bernardo, Angela Peron, Silvia Maitz, Andrea Accogli, Gerarda Cappuccio, Sandro Banfi, Giorgio Casari, Andrea Ballabio, Nicola Brunetti-Pierri, Vincenzo Nigro, Telethon Undiagnosed Disease Study Group

Duncan NRI Faculty and Staff Publications

Purpose: Many children with severe genetic disorders remain undiagnosed despite advanced genomic technologies. Early diagnosis is vital for prognosis, genetic counseling, and targeted treatment development. This study aims to increase diagnostic rates in complex pediatric cases and foster research into disease mechanisms.

Methods: Launched in 2016, the Telethon Undiagnosed Diseases Program provides a structured, multicenter approach to rare disease diagnosis. Standardized case submission criteria ensured consistent clinical data collection. Children with severe, multisystemic disorders and prior negative genetic tests were eligible. After case approval, trio-based exome sequencing was performed, with regular reanalysis for unsolved cases until December 2024.

Results: Between …