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Institute for Genomic Medicine

Novel Genetic Driver Discovered for Pediatric Meningiomas Using Molecular Profiling
 Novel Genetic Driver Discovered for Pediatric Meningiomas Using Molecular Profiling 1024 575 Katie Brind'Amour, PhD, MS, CHES
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Researchers have uncovered a rare subset of meningiomas with a genetic driver shared by another cancer type, opening the door to new therapeutic considerations. When an interesting or intractable cancer case arises at Nationwide Children’s Hospital, researchers and clinicians involved in the Brain Tumor Protocol through The Steve and Cindy Rasmussen Institute for Genomic Medicine…

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Cerebral Organoids Provide Insight into Human Brain Development and Neurological Disease
 Cerebral Organoids Provide Insight into Human Brain Development and Neurological Disease 1024 575 JoAnna Pendergrass, DVM
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microscopic image of brain organoid

Correlations between the neuroelectrical maturation and cellular development of cerebral organoids highlight the organoids’ translational and therapeutical potential in early neurodevelopmental disorders. Cerebral organoids are three-dimensional miniature organs that resemble the human brain. Derived from human pluripotent stem cells, cerebral organoids have emerged to advance stem cell research, improve three-dimensional tissue culture techniques and enhance…

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Prematurity and Genomics: Can Complications For a Baby Born Preterm Be Predicted?
 Prematurity and Genomics: Can Complications For a Baby Born Preterm Be Predicted? 1024 575 Eric Butterman
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conceptual art of DNA

Complications from being born preterm are the number one cause of death in the world for children under the age of five, says Leif Nelin, MD, division chief of Neonatology at Nationwide Children’s Hospital and professor of Pediatrics at The Ohio State University . But why do some babies born preterm develop complications while many others seem…

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

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Study Sheds Light on Causes of Phenotype Variation in IQSEC2-Related Disease
 Study Sheds Light on Causes of Phenotype Variation in IQSEC2-Related Disease 1024 575 Lauren Dembeck
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Variant type and inheritance pattern affect patient phenotypes in IQSEC2-related disease. Investigators from Nationwide Children’s Hospital and The Ohio State University College of Medicine recently identified additional pathogenic variants within the IQSEC2 gene, which has previously been associated with X-linked intellectual disability, in five patients. They also demonstrated that different variant types correlate with the severity of…

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What Can We Learn From the Co-occurrence of a Genetic Disorder and Cancer?
 What Can We Learn From the Co-occurrence of a Genetic Disorder and Cancer? 150 150 Mary Bates, PhD
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Researchers investigate an unusual case of concurrent genetic and somatic diagnoses. In a new paper in the European Journal of Medical Genetics, researchers from Nationwide Children’s Hospital discuss the case of a 4-year-old with both a rare genetic disorder and medulloblastoma. Genetic analyses allowed them to evaluate the cause of the genetic disorder and provided support…

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New Model Provides Novel View of Congenital Heart Disease
 New Model Provides Novel View of Congenital Heart Disease 150 150 Lauren Dembeck
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The small animal model helps researchers to interpret genomic findings. Researchers at Nationwide Children’s Hospital have developed the first mouse model of congenital heart valve disease using a human gene carrying a disease-causing mutation. Using this model, they were able to follow the human valve disease phenotype from birth to adulthood and identify developmental deficits…

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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
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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…

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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
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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…

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Achieving CLARITY
 Achieving CLARITY 1024 575 Abbie Roth
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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 learn…

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Technology Expands Access to Translational Medicine
 Technology Expands Access to Translational Medicine 150 150 Abbie Roth
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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…

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