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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Studying the Environment’s Impact on Pediatric Health Outcomes

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Understanding Long-Term Outcomes for Children With Anorectal Malformation
 Understanding Long-Term Outcomes for Children With Anorectal Malformation 1024 683 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

Researchers finally have high-quality data about the trajectory of continence outcomes — and key predictors for quality of life — across childhood for children with anorectal malformations. For many parents of children with an anorectal malformation (ARM), the primary goal is for the child…

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Cystic Fibrosis: Screening, Diagnosis and Therapy
 Cystic Fibrosis: Screening, Diagnosis and Therapy 1024 522 Pam Georgiana
By: Pam Georgiana

Since the implementation of universal newborn screening for cystic fibrosis in all states by 2010, the expectation has been that every child with cystic fibrosis would be identified early and benefit from life-extending treatments. The reality, however, is more complex. “Because of the complexities…

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ACMG Issues Primer on Regulation of Laboratory-Developed Tests
 ACMG Issues Primer on Regulation of Laboratory-Developed Tests 1024 683 Lauren Dembeck
By: Lauren Dembeck

The new statement, co-authored by a Nationwide Children’s laboratory geneticist, outlines how lab-developed tests are regulated and offers patient-centered recommendations for modernizing oversight. Laboratory-developed tests (LDTs) are validated testing protocols developed by certified clinical laboratories for patient care and play an essential role in…

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Forging the Future of Sarcoma Care and Research
 Forging the Future of Sarcoma Care and Research 150 150 Nationwide Children's
By: Nationwide Children's

Precision Medicine for Children With Sarcoma At age 7, Will was diagnosed with an osteosarcoma after breaking his leg while visiting his grandmother in Pennsylvania. Scans of the injury revealed that Will’s broken leg was likely caused by a tumor. Hundreds of miles from…

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Featured Researcher – Ryan Roberts, MD, PhD
 Featured Researcher – Ryan Roberts, MD, PhD 150 150 Gina Vitale
By: Gina Vitale

Ryan D. Roberts, MD, PhD, is a physician in the Division of Hematology and Oncology at Nationwide Children’s Hospital and a principal investigator for the Center for Childhood Cancer at the Abigail Wexner Research Institute at Nationwide Children’s Hospital. He is a member of…

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Don’t Oversize Your Tissue-Engineered Vascular Grafts: Insights for the Translation of New Surgical Technologies
 Don’t Oversize Your Tissue-Engineered Vascular Grafts: Insights for the Translation of New Surgical Technologies 1024 683 Abbie Miller
By: Abbie Miller

Study shows that adoption of a tissue engineered vascular graft technology currently in clinical trials would require a shift in surgical approach. Tissue engineered vascular grafts (TEVGs) are designed to overcome two important problems associated with synthetic conduits used in surgeries for children with…

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Close up color photo of little boy holding hands on his belly
A New Path to Relief: Gastrostomy Tubes Offer Treatment for Children With Autism and Chronic Constipation
 A New Path to Relief: Gastrostomy Tubes Offer Treatment for Children With Autism and Chronic Constipation 1024 680 Pam Georgiana
By: Pam Georgiana

A groundbreaking study reveals how a low-risk intervention dramatically improves quality of life. Children with autism spectrum disorder often struggle with chronic constipation due to behavioral, sensory and dietary challenges. Uncontrolled constipation can cause poor school functioning, eating challenges and sleeping issues. In many…

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New Trial Aims to Boost Kids’ Immune Systems to Fight Neuroblastoma
 New Trial Aims to Boost Kids’ Immune Systems to Fight Neuroblastoma 1024 558 Lauren Dembeck
By: Lauren Dembeck

A new cellular therapy approach could improve outcomes and ease the treatment burden for patients and families. Neuroblastoma is rare, with only 700 to 800 new cases diagnosed in the United States each year, but it is the most common extracranial solid tumor in…

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How Does Modification of RNA Influence the Development of Pediatrics Dilated Cardiomyopathy?
 How Does Modification of RNA Influence the Development of Pediatrics Dilated Cardiomyopathy? 1024 783 Abbie Miller
By: Abbie Miller

New study shows essential role of RNA methlytransferase-mediated m6A modification in regulating heart development. Traditional research to understand the origins of congenital heart disease have focused on understanding how genetic mutations may cause heart problems. Now, a team at Nationwide Children’s Hospital is exploring…

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Relative Adrenal Insufficiency Observed Among Patients With High-Risk Neuroblastoma During Treatment
 Relative Adrenal Insufficiency Observed Among Patients With High-Risk Neuroblastoma During Treatment 1024 683 Jessica Nye, PhD
By: Jessica Nye, PhD

A subset of patients with high-risk neuroblastoma (NBL) and primary adrenal tumors develop an adrenal insufficiency (AI)-like phenotype during treatment. “We noticed that some of the patients with neuroblastoma had less hypotension when we added hydrocortisone while they were getting dinutuximab therapy. So, we…

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Treating Severe Pediatric Kidney Disease with Simultaneous Bilateral Native Nephrectomy
 Treating Severe Pediatric Kidney Disease with Simultaneous Bilateral Native Nephrectomy 480 320 Pam Georgiana
By: Pam Georgiana

A 15-year review of indications, approaches and outcomes. A recent study published in Pediatric Transplantation and led by Christina B. Ching, MD, pediatric urologist in the Department of Pediatric Urology at Nationwide Children’s Hospital, offers valuable insights into a very rare clinical procedure: simultaneous…

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By the Book: Guiding Teens Through Inpatient Psychiatric Stays
 By the Book: Guiding Teens Through Inpatient Psychiatric Stays 1024 555 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

A new patient guidebook provides evidence-based resources to engage adolescents in their recovery throughout and after their hospital stay. Inpatient admissions for child and adolescent psychiatry patients typically occur due to a psychiatric crisis. At Nationwide Children’s Hospital, children stay an average of eight…

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Featured Researcher – Mattina Davenport, PhD
 Featured Researcher – Mattina Davenport, PhD 150 150 Gina Vitale
By: Gina Vitale

What happens when a passion for law and social advocacy intersects with science and mentorship? The result is a remarkable research scientist driven to improve pediatric health equity and access, eager to lead the next generation of scientists. Meet Mattina A. Davenport, PhD. She’s…

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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 683 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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Genetic Variation Contributing to Nephrotic Syndrome
 Genetic Variation Contributing to Nephrotic Syndrome 1024 683 Abbie Miller
By: Abbie Miller

Genetic variants in CR1 have significantly different population-specific frequencies and are linked with focal segmental glomerulosclerosis (FSGS) – the leading cause of nephrotic syndrome. Focal segmental glomerulosclerosis (FSGS) is a leading cause of nephrotic syndrome — a kidney disorder that causes proteins to leak…

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Preventing Pediatric Suicide Through Systems-Level Collaboration
 Preventing Pediatric Suicide Through Systems-Level Collaboration 1024 576 Pam Georgiana
By: Pam Georgiana

How primary care, schools and communities are working together to address pediatric suicide rates through early intervention and collaborative care. Suicide is the second leading cause of death for youth aged 10 to 24 in the United States, and rates have been steadily rising…

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Depression is the New Predictor of Diabetes Control in Teens
 Depression is the New Predictor of Diabetes Control in Teens 1024 683 Pam Georgiana
By: Pam Georgiana

A new study reveals that depressive symptoms, not diabetes-specific stress, forecast long-term glycemic outcomes in adolescents with type 1 diabetes. Managing type 1 diabetes is challenging at any age, but for adolescents, the burden can be especially overwhelming. Previous cross-sectional studies have shown a…

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Novel Viral Vector Manufacturing Approach Could Improve Safety of Gene Therapy
 Novel Viral Vector Manufacturing Approach Could Improve Safety of Gene Therapy 1024 683 Lauren Dembeck
By: Lauren Dembeck

New AAV proviral plasmid for vector manufacturing has potential to increase patient safety and make gene therapies more affordable, researchers say. Gene therapy is one of the most exciting frontiers in modern medicine, offering potential cures for previously devastating or fatal disorders, such as…

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A Simple Intervention With Great Potential
 A Simple Intervention With Great Potential 1024 585 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

If the CORD-CHD Study meets even a single endpoint, it will represent one of the simplest and most accessible improvements in congenital heart disease management in recent history. The concept is elegant in its simplicity: delay clamping the umbilical cord for a minute or…

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Enhancing Pediatric Suicide Risk Detection: Effective Screening, Pathways and Care
 Enhancing Pediatric Suicide Risk Detection: Effective Screening, Pathways and Care 1024 683 Madison Storm
By: Madison Storm

Youth suicide is a leading cause of death in the United States. Most youth who die by suicide have no mental illness diagnosis and have visited a health care provider within a year prior to their death. In fact, 40% of those youth visited…

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