Clinical Genomics: From Research to Reality

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Single Ventricle, Many Research Angles

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Setting the Standard for Cloacal Malformation Management

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Who Do You Trust?

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Studying the Environment’s Impact on Pediatric Health Outcomes

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Evaluating the Mental Health Impact of a Promising New Treatment for Cystic Fibrosis
 Evaluating the Mental Health Impact of a Promising New Treatment for Cystic Fibrosis 706 470 Pam Georgiana
By: Pam Georgiana

Insights from Nationwide Children’s study on how Trikafta affects children with cystic fibrosis. In response to the promising clinical benefits of elexacaftor/tezacaftor/ivacaftor (Trikafta) in adults with cystic fibrosis, a team in Nationwide Children’s Hospital Cystic Fibrosis Clinic recently investigated the effects of the drug…

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Featured Researcher – Nizar Y. Saad, PhD
 Featured Researcher – Nizar Y. Saad, PhD 150 150 Gina Vitale
By: Gina Vitale

Not all genetic diseases are inherited; however, they are all the result of DNA mutations or flaws. Genetic research and gene therapy are integral in finding cures or helpful treatments for diseases such as muscular dystrophy. At the Abigail Wexner Research Institute (AWRI) at…

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Creation of Patient-Derived Induced Pluripotent Stem Cell Lines for Studying Rare Pediatric Genitourinary Disorders
 Creation of Patient-Derived Induced Pluripotent Stem Cell Lines for Studying Rare Pediatric Genitourinary Disorders 1024 683 Lauren Dembeck
By: Lauren Dembeck

Nationwide Children’s researchers create first-ever stem cell lines for rare genitourinary conditions. Induced pluripotent stem cells (iPSCs) have revolutionized medical research by providing powerful tools to study disease mechanisms, especially in rare genetic conditions. These versatile cells, derived directly from patients that have the…

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Teen girl with backpack
Understanding Treatment Outcomes in Pediatric Bipolar Disorder
 Understanding Treatment Outcomes in Pediatric Bipolar Disorder 1024 575 Pam Georgiana
By: Pam Georgiana

New study compares minimally adequate behavioral health treatments and clinical outcomes. Pediatric bipolar disorder, which affects approximately 3.9% of youth globally, is the fourth leading cause of years of life lost due to disability and premature death for young people between the ages of…

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Why Do Some Children Have Worse Outcomes After Moderate to Severe Traumatic Brain Injury?
 Why Do Some Children Have Worse Outcomes After Moderate to Severe Traumatic Brain Injury? 1024 683 Jessica Nye, PhD
By: Jessica Nye, PhD

Children had reduced white matter structural connectivity after moderate to severe traumatic brain injury (TBI) relative to children with complicated-mild TBI (cmTBI) or orthopedic injury (OI). This reduced connectivity may explain some disparities in behavioral outcomes. Children and adolescents who experience a TBI are…

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Understanding Relationships Among Responsive Parenting, Internalizing in Children and Emotionality
 Understanding Relationships Among Responsive Parenting, Internalizing in Children and Emotionality 1024 576 JoAnna Pendergrass, DVM
By: JoAnna Pendergrass, DVM

A new study offers insights in the complex interplay among negative emotionality, internalizing problems and parental responsivity in very young children. Positive responsive parenting can benefit children aged 3 to 5 years with internalizing problems, especially those with average to high levels of negative…

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Who Do You Trust?
 Who Do You Trust? 1024 304 Abbie Miller
By: Abbie Miller

Health and science communicators face increasing challenges in a world where misinformation abounds and trust is a coveted commodity. You might have heard the phrase “post-truth world” used to describe the shifting dynamics of fact, fiction and trusted sources. With the increase in artificial…

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Single Ventricle, Many Research Angles
 Single Ventricle, Many Research Angles 1024 658 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

An overview of the people and projects behind one of the world’s most robust single-ventricle heart disease research hubs.  In the field of single-ventricle heart disease (SVHD), there are more questions than answers. What causes the heart to form with only one ventricle? At…

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Setting the Standard for Cloacal Malformation Management
 Setting the Standard for Cloacal Malformation Management 1024 928 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

The team in the Center for Colorectal and Pelvic Reconstruction at Nationwide Children’s Hospital has transformed the profession’s approach to surgical care and follow-up, dramatically altering patient outcomes in the process. To say that cloacal malformation management has been historically understudied may be an…

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Postpartum Depression Linked to Increased Use of Acute Infant Care
 Postpartum Depression Linked to Increased Use of Acute Infant Care 1024 569 Alaina Doklovic
By: Alaina Doklovic

Study results highlight the importance of primary care in infant and maternal support. In a recent study published in Academic Pediatrics, researchers found a link between postpartum depression in mothers and the infants’ use of acute care, which includes emergency department or urgent care…

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Clinical Genomics: From Research to Reality
 Clinical Genomics: From Research to Reality 1024 716 Abbie Miller
By: Abbie Miller

Without genomic sequencing, many genetic diseases would never be diagnosed. Genomic testing — whole exome or whole genome sequencing — is vital to reducing the diagnostic odyssey for children with rare, undiagnosed disease. But is genetic analysis only useful in these cases? Experts across…

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From Bench to Bedside: Collaborations Drive Meaningful Change
 From Bench to Bedside: Collaborations Drive Meaningful Change 1024 360 Abbie Miller
By: Abbie Miller

The move from a research-first approach to genomic testing to offer more clinically available assays was driven in part by limitations in current clinical testing offerings, as well as by the decreasing cost and turn-around time of genomic sequencing. This environment drove the development…

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Direct Breastfeeding of Mother’s Own Milk Benefits Preterm Infants
 Direct Breastfeeding of Mother’s Own Milk Benefits Preterm Infants 1024 575 Mary Bates, PhD
By: Mary Bates, PhD

Despite benefits, new study finds low rates of breastfeeding among preterm infants discharged from the NICU. Mother’s own milk (MOM) and direct breastfeeding (DBF) are associated with numerous health and development advantages, especially for preterm infants. However, the rates of MOM feeding and DBF…

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Genomic Analysis: Overcoming a Formidable Challenge
 Genomic Analysis: Overcoming a Formidable Challenge 1024 360 Abbie Miller
By: Abbie Miller

Despite the improvements in scale and speed of generating genomic sequencing data, the challenge of genomic analysis and its costs remains. “In my opinion, the cost of data analysis has always been the largest component of the overall cost,” says Elaine Mardis, PhD, co-executive…

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Studying the Environment’s Impact on Pediatric Health Outcomes
 Studying the Environment’s Impact on Pediatric Health Outcomes 1024 619 Wendy Margolin
By: Wendy Margolin

A massive population database is expected to inform and transform children’s health outcomes. Researchers from Nationwide Children’s Hospital and The Ohio State University are focusing on how early exposures might be associated with areas such as neurodevelopment and cardiovascular outcomes as part of a…

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Bridging the Gap: Aligning Aspirations with Workforce Reality in Pediatric Endocrinology
 Bridging the Gap: Aligning Aspirations with Workforce Reality in Pediatric Endocrinology 1024 683 Pam Georgiana
By: Pam Georgiana

Recent survey reveals a mismatch in career expectations and realities, calling for enhanced mentorship and policy reform. Pediatric endocrinology, like many pediatric subspecialities, is struggling to sustain an adequate workforce. When Leena Nahata, MD, served on the Research Affairs Committee of the Pediatric Endocrine…

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Transforming Medical Training: Perspectives on Competency-Based Education
 Transforming Medical Training: Perspectives on Competency-Based Education 1024 557 Madison Storm
By: Madison Storm

The alternative approach would move away from traditional time-based education to a more flexible, competency-focused approach. Imagine a world where medical education is tailored to each student’s pace and learning style, ensuring every graduate is fully competent in real-world clinical settings. A recent perspective…

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Managing the Pain of Medical Procedures With Virtual Reality
 Managing the Pain of Medical Procedures With Virtual Reality 1024 572 Mary Bates, PhD
By: Mary Bates, PhD

Clinicians across departments pilot a virtual reality game for pediatric pain management, moving virtual reality closer to clinical standard practice. A recent pilot study from researchers at Nationwide Children’s Hospital demonstrated the benefits of a virtual reality (VR) game during potentially painful procedures in…

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Harnessing the Power of Antimicrobial Peptides: A New Frontier in Infection Prevention
 Harnessing the Power of Antimicrobial Peptides: A New Frontier in Infection Prevention 1024 602 Pam Georgiana
By: Pam Georgiana

Research offers promising solutions for urinary tract infection treatment and antibiotic resistance. Urinary tract infections affect millions of people and can contribute to significant morbidity. Research into innate immunity mechanisms has shown great promise for improving urinary tract infection prevention and treatment strategies, especially…

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Genomics Testing in the Neonatal Intensive Care Unit: Reducing Variability, Improving Utility
 Genomics Testing in the Neonatal Intensive Care Unit: Reducing Variability, Improving Utility 1024 575 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

Genomics testing of infants in the neonatal intensive care unit (NICU) has the potential to improve care, but process improvement efforts require consideration of major differences in hospital resources. Babies with genetic conditions make up a significant number of the infants in pediatric and…

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