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Genomics

Optimizing Prenatal and Neonatal Care for Infants With Treatable Rare Diseases
 Optimizing Prenatal and Neonatal Care for Infants With Treatable Rare Diseases 1024 619 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

As new treatments emerge and diagnostics improve, earlier interventions offer infants with rare metabolic and neurodegenerative conditions a future wildly different than ever before. Not long ago, a diagnosis of molybdenum cofactor deficiency (MoCD) type A meant death before kindergarten. Since the FDA approval of NULIBRY® (fosdenopterin) in 2021, however, children diagnosed with MoCD type…

Accelerating Advances in Epilepsy Surgery
 Accelerating Advances in Epilepsy Surgery 1024 683 Abbie Miller
By: Abbie Miller

One program is bringing together clinical care, surgery and research to create a brighter future for children with intractable epilepsy. Childhood-onset epilepsy affects 1% of children worldwide. Up to a third of patients with epilepsy will have medically refractory epilepsy, continuing to have seizures despite using two or more antiseizure medications. Options for this group…

Innovative Gene Therapy Approach for Treating Patients with Tuberous Sclerosis Type 2
 Innovative Gene Therapy Approach for Treating Patients with Tuberous Sclerosis Type 2 150 150 Lauren Dembeck
By: Lauren Dembeck

Tuberous sclerosis complex (TSC) is a devastating genetic disease that affects nearly 1 in every 5,500 newborns and approximately 2 million people worldwide. The disease is characterized by the formation of non-malignant tumors throughout multiple organs, including the kidney, lungs, eyes, and heart, but predominantly the brain. It is typically diagnosed in infants and young…

Expanding Access to Genomic Testing in Level IV Neonatal Intensive Care Units
 Expanding Access to Genomic Testing in Level IV Neonatal Intensive Care Units 1024 575 Pam Georgiana
By: Pam Georgiana
conceptual art of DNA

Recent study identifies variations in availability and highlights opportunities to improve access to genomic testing in the United States and Canada. In the Nationwide Children’s Hospital neonatal intensive care unit, patients needing rapid genome sequencing can get it on demand without administrative approval. However, that is not the case in all level IV neonatal intensive…

Congenital Heart Disease and Extracardiac Phenotypes Associated With Novel Pathogenic Variant in GATA6
 Congenital Heart Disease and Extracardiac Phenotypes Associated With Novel Pathogenic Variant in GATA6 1024 575 Jessica Nye, PhD
By: Jessica Nye, PhD

A study published in Pediatric Research describes a novel pathogenic variant in the gene GATA binding protein 6 (GATA6) associated with congenital heart disease (CHD), diabetes mellitus and necrotizing enterocolitis.   GATA is a family of transcription factors that encode zinc finger DNA binding proteins which are critical regulators during organogenesis. Pathogenic variants in three…

Novel Cause of Brain Mosaicism and Focal Epilepsy Identified
 Novel Cause of Brain Mosaicism and Focal Epilepsy Identified 1024 575 Abbie Miller
By: Abbie Miller

In Nature Genetics, researchers report a novel mechanism for the origin of brain chromosomal mosaicism and link brain mosaic chromosome 1q gain to a distinct clinical phenotype.   In most people, every cell in their body contains the same genetic information. However, sometimes people can have two or more genetically different sets of cells. This…

Chaotic Genomes in Childhood Bone Tumors Are Not Always Unstable
 Chaotic Genomes in Childhood Bone Tumors Are Not Always Unstable 1024 575 Jessica Nye, PhD
By: Jessica Nye, PhD
conceptual art of DNA

The structural genomic complexity that characterizes most osteosarcoma tumors in children was not evidence of an unstable genome and a driver of cell-to-cell variations in gene expression within each tumor. “We’ve been trying to understand how tumor cells change as they become resistant to therapy or as they metastasize and spread to different parts of…

Genomic Medicine Translational Protocols – What Do They Mean for Patients Everywhere?
 Genomic Medicine Translational Protocols – What Do They Mean for Patients Everywhere? 1024 614 Elizabeth Varga
By: Elizabeth Varga
abstract art of magnifying glass over DNA strand

As part of the Journey to Best Outcomes, Nationwide Children’s Hospital has dedicated significant resources to genomic medicine, named as a key accelerator in the 2017-2021 strategic plan and as one of the three pillars that will be utilized to integrate research and clinical care over the next five years. In response, the Steve and…

Exploring the Complex Immune Microenvironment of Rasmussen Encephalitis
 Exploring the Complex Immune Microenvironment of Rasmussen Encephalitis 1024 587 Lauren Dembeck
By: Lauren Dembeck

Researchers used a multi-omics approach to gain a deeper understanding of aberrant cellular signaling leading to progression of a rare childhood neurological disease.   Rasmussen encephalitis is a very rare childhood neurological disease characterized by chronic progressive inflammation of one hemisphere of the brain, leading to loss of function, neurodegeneration, and drug-resistant epilepsy. Researchers have…

New Disorder of Copper Metabolism Identified, Caused by Variants in CTR1 Gene
 New Disorder of Copper Metabolism Identified, Caused by Variants in CTR1 Gene 1024 575 Abbie Miller
By: Abbie Miller

A novel missense mutation in identical twins leads to discovery and definition of new inherited disorder of brain copper metabolism. Copper is essential for many cellular functions, including cellular respiration, antioxidant defense, neurotransmitter biosynthesis and neuropeptide amidation, among others. Until recently, only two inborn errors of copper metabolism were well established. Both are rare. Wilson’s…

Featured Researcher — Tracy Bedrosian, PhD
 Featured Researcher — Tracy Bedrosian, PhD 150 150 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

Tracy Bedrosian, PhD, is a principal investigator in the Steve and Cindy Rasmussen Institute for Genomic Medicine and a specialist in brain mosaicism and neurodevelopment working to uncover the impact that localized mutations in brain cells have on epilepsy symptoms, autism and other neurodevelopmental diseases. She collaborates with neurologists and other experts in the Steve…

Exploring Dopamine Genotype as a Moderator of the Effect of Parental Behavior on Children’s Self-Control
 Exploring Dopamine Genotype as a Moderator of the Effect of Parental Behavior on Children’s Self-Control 150 150 Daphne Vrantsidis, PhD
By: Daphne Vrantsidis, PhD

Did you know developmental psychologists have found the secret to life success? It’s not eating your vegetables or doing your homework or anything else your parents or teachers told you growing up. It’s how long you waited to eat a marshmallow when you were 4 years old. Delaying gratification — waiting 5 minutes to eat…

The Impact of Genomic Medicine: Carter’s Story
 The Impact of Genomic Medicine: Carter’s Story 1024 685 Natalie Wilson
By: Natalie Wilson

In 2013, at just 1 year old, Carter Daggett was diagnosed with a rare brain tumor. Now, in 2021, at 8 years old, he celebrated three years cancer free — thanks to his clinical teams and cutting-edge research by the team at the Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital.…

Study Highlights Relationship Between SI Gene and Chronic, Idiopathic Loose Stool in Some Children
 Study Highlights Relationship Between SI Gene and Chronic, Idiopathic Loose Stool in Some Children 1024 680 Abbie Miller
By: Abbie Miller
Close up color photo of little boy holding hands on his belly

Researchers conducted one of the largest prospective, multicenter trials in pediatrics looking at the connection between SI variants and common gastrointestinal symptoms. The SI gene codes for the sucrase-isomaltase enzyme, which is expressed in the intestinal brush border. This enzyme is important to the digestion of sucrose, and without it, maldigestion and poor absorption of…

The Sound of Silence: The Impact of “Silent” Genetic Variation in Health and Disease
 The Sound of Silence: The Impact of “Silent” Genetic Variation in Health and Disease 1024 575 Lauren Dembeck
By: Lauren Dembeck

Despite widespread scientific interest in messenger RNA (mRNA) structure, its role in human health and disease remains poorly understood. Researchers at Nationwide Children’s Hospital have developed novel software and metrics to identify “silent” genetic variants that affect mRNA folding and may underlie rare genetic disorders. Historically, synonymous or “silent” genetic variants — those in protein-coding…

Intractable Epilepsy Linked to Brain-Specific Genetic Mutation
 Intractable Epilepsy Linked to Brain-Specific Genetic Mutation 1024 794 Lauren Dembeck
By: Lauren Dembeck

DNA replication errors during development are revealed by genomic study. As part of an ongoing, collaborative study between neurologists and genomics experts at Nationwide Children’s Hospital, researchers have identified somatic mosaicism in the resected brain tissues of a child with treatment-resistant, intractable epilepsy. One of the two genetically distinct cell populations identified carries a pathogenic…

Using Genomics to Unlock Secrets of Recurrent Ear Infections
 Using Genomics to Unlock Secrets of Recurrent Ear Infections 1024 575 Abbie Miller
By: Abbie Miller
conceptual art of DNA

Nontypeable Haemophilus influenzae (NTHI) is responsible for many acute and recurrent infections in children, such as otitis media. Otitis media – middle ear infection – is a common type of recurrent infection in children, with as many as 700 million acute cases and 300 million recurrent cases each year. One type of bacteria responsible for…

A Novel Method of Data Analysis Enables Identification of Genetic Drivers of Pediatric Cancer
 A Novel Method of Data Analysis Enables Identification of Genetic Drivers of Pediatric Cancer 1024 575 Bailey Dye
By: Bailey Dye
conceptual art of DNA

An innovative approach to data analysis can more efficiently identify gene fusion events common to pediatric cancers, and inform clinical diagnoses and treatment decisions. The standard of care for cancer patients is changing. With the advent of personalized medicine, genetic testing is slowly becoming a routine clinical practice, and with it comes a better understanding…

Prediction of Bronchopulmonary Dysplasia-Associated Pulmonary Hypertension by Combining Clinical and Genetic Data
 Prediction of Bronchopulmonary Dysplasia-Associated Pulmonary Hypertension by Combining Clinical and Genetic Data 150 150 Lauren Dembeck
By: Lauren Dembeck

DNA Variations Associated With Prolonged Walking in Duchenne Muscular Dystrophy
 DNA Variations Associated With Prolonged Walking in Duchenne Muscular Dystrophy 1024 575 Kevin Mayhood
By: Kevin Mayhood
boy with muscular dystrophy completing walk test

Genome-wide association study identifies two variants that may yield therapies for children with DMD. Researchers at Nationwide Children’s have found that two DNA variants that play a role in gene regulation are associated with prolonged ability to walk in boys with Duchenne muscular dystrophy (DMD). Kevin Flanigan, MD, director of the Center for Gene Therapy,…

Generating the Genome: How Scientists Changed the Face of Cancer Research
 Generating the Genome: How Scientists Changed the Face of Cancer Research 1024 683 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES
Color photo; environmental portrait ofDrs. Elaine Mardis and Richard Wilson

Team science. Ongoing innovation. Brilliant minds. Here’s how The Cancer Genome Atlas spawned a revolution in cancer research and technology. The Cancer Genome Atlas is wrapping up. Its data now lives online in the Genomic Data Commons, freely available to the public. Reports of the primary findings for each studied tumor type have been published, and…

Bridging the Gap Between the Genomics Lab and the Cardiology Clinic: CardioGX for Phenotype-Driven Variant Analysis
 Bridging the Gap Between the Genomics Lab and the Cardiology Clinic: CardioGX for Phenotype-Driven Variant Analysis 150 150 Abbie Miller
By: Abbie Miller

The cloud-based platform is a free tool that empowers clinicians and fosters collaboration to find new genetic mutations that cause heart disease. Finding ways to support clinicians and researchers in accessing and utilizing genomic data is paramount to incorporating genomics into clinical care. CardioGX (CardioGenomics eXchange commons) is an interactive web application designed to help clinicians and…

Accessing Genomic Data for Research and Clinical Diagnostics – Meeting the Challenge
 Accessing Genomic Data for Research and Clinical Diagnostics – Meeting the Challenge 1024 575 Rajeswari Swaminathan, MS
By: Rajeswari Swaminathan, MS
Rajeswari Swaminathan smiling and posing for photo in front of windows

What good is genomic data if it can’t be shared efficiently? The genesis of DNA sequencing technology in the 1970s was a turning point in science, giving birth to a modern era in biology. Further, with the unfolding of the relationship between nucleic acid order and uniqueness across species, improvement in strategies to sequence this…

Is Whole Exome Sequencing the Future of Kidney Stone Management?
 Is Whole Exome Sequencing the Future of Kidney Stone Management? 150 150 Katie Brind'Amour, PhD, MS, CHES
By: Katie Brind'Amour, PhD, MS, CHES

The first use of whole exome sequencing for monogenic causes of kidney stone disease reveals the diagnostic tool is ripe for clinical application. In the first-ever study of whole exome sequencing for early-onset kidney stone disease, an international team of researchers led by clinician-scientists at Boston Children’s Hospital expanded on their prior finding that many…

Large-Scale Genomics Study Identifies Children With High-Risk Cancer
 Large-Scale Genomics Study Identifies Children With High-Risk Cancer 150 150 Mary Bates, PhD
By: Mary Bates, PhD

Some subtypes of leukemia have a poor prognosis. Genomic studies are helping to identify these subtypes, leading to targeted therapies. Acute lymphoblastic leukemia (ALL), a malignancy of the white blood cells, is a common childhood cancer. Understanding the genomic changes underlying ALL has led to the development of new, targeted therapies, especially for patients with…

Solving the Problem of Managing Big Genomic Data
 Solving the Problem of Managing Big Genomic Data 150 150 Abbie Miller
By: Abbie Miller

Researchers at Nationwide Children’s Hospital complete a first-of-its-kind project to evaluate a large-scale genomic data management system on the scale of up to one million genomes. The influx of genomics data resulting from the increasing affordability of whole exome/genome sequencing and President Obama’s Precision Medicine Initiative requires a novel technological solution to data storage, communication…

How to Integrate Genomics into Clinical Practice
 How to Integrate Genomics into Clinical Practice 150 150 Abbie Miller
By: Abbie Miller

Recommendations from the Clinical Genetics Think Tank outline five key areas of focus for bringing genome and exome sequencing into the clinic. Clinical genome and exome sequencing (CGES) as a diagnostic tool is altering practice for clinical geneticists, genetic counselors and other clinical specialists. The Clinical Genetics Think Tank (CGTT) has identified five areas of…

Using Whole Exome Sequencing to Find Genetic Cause of Congenital Heart Disease in At-Risk Patients
 Using Whole Exome Sequencing to Find Genetic Cause of Congenital Heart Disease in At-Risk Patients 150 150 Brianne Moore
By: Brianne Moore

Whole exome sequencing has the ability to identify disease-causing mutations, contributing to the development of personalized medicine and bridging a crucial gap between scientific knowledge and clinical application. Congenital heart disease (CHD) is the most common type of birth defect, affecting approximately 40,000 births per year in the United States. While some types of CHD…

How Does Genomic Medicine Become a Reality for Children’s Health?
 How Does Genomic Medicine Become a Reality for Children’s Health? 1024 575 Jan Arthur
By: Jan Arthur
conceptual art of DNA

Perhaps one of the most important initiatives to advance our understanding of pediatric disease is genomic analysis. Genomics encompasses all aspects of understanding the human genetic code, especially how genetic information contained in every human cell can be interpreted to prevent disease and customize treatments for nearly every type of illness. Genomic analysis allows us…

Achieving CLARITY
 Achieving CLARITY 1024 575 Abbie Miller
By: Abbie Miller
conceptual art of DNA

Multidisciplinary team from Nationwide Children’s wins international genomics competition. Accurate, patient-centered, comprehensive. That’s how the judges and leaders of the CLARITY Undiagnosed Challenge described the work of a team from Nationwide Children’s Hospital. Those same words could be used to describe the highly motivated and diverse team who surprised themselves by winning the challenge. “When we entered the challenge, we knew we would…

Technology Expands Access to Translational Medicine
 Technology Expands Access to Translational Medicine 150 150 Abbie Miller
By: Abbie Miller

When primary care physicians, specialists and all the lab work in their arsenal fail to provide a diagnosis for debilitating symptoms, patients earn the label of “undiagnosed.” These undiagnosed patients wait with unresolved symptoms for medical research to catch up with them. The Undiagnosed Diseases Program (UDP) at the National Institutes of Health sees 120-150 previously undefined…