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Institute for Genomic Medicine

New Initiative Aims to Bring Personalized Diagnosis and Treatment to Children With Solid Tumors
 New Initiative Aims to Bring Personalized Diagnosis and Treatment to Children With Solid Tumors 1024 614 Lauren Dembeck
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abstract art of magnifying glass over DNA strand

Collaboration among National Cancer Institute, Children’s Oncology Group and Nationwide Children’s Hospital will offer molecular characterization of childhood cancers. The National Institutes of Health’s National Cancer Institute (NCI), Children’s Oncology Group (COG), and Nationwide Children’s Hospital are poised to change the direction of pediatric cancer diagnosis and care through a new initiative that is the…

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Multimodal Molecular Profiles Offer Clinically Valuable Information to Oncologists
 Multimodal Molecular Profiles Offer Clinically Valuable Information to Oncologists 150 150 Katie Brind'Amour, PhD, MS, CHES
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Expanding the profiling ordered for central nervous system (CNS) tumors may meaningfully impact diagnosis and treatment. Prajwal Rajappa, MD, MS, a physician-scientist and principal investigator for the Steve and Cindy Rasmussen Institute for Genomic Medicine (IGM) at Nationwide Children’s Hospital, has long advocated for a more robust use of precision medicine approaches to improve clinicians’…

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Brain Organoids Provide Novel Mechanistic Insight into Microcephaly Associated with AUTS2 Syndrome
 Brain Organoids Provide Novel Mechanistic Insight into Microcephaly Associated with AUTS2 Syndrome 873 552 Lauren Dembeck
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Microscopy image of cerebral organoid sections

Researchers have functionally validated a genotype-phenotype relationship between a variant in the AUTS2 gene and neurodevelopmental deficits in AUTS2 syndrome using patient-derived brain organoids. Genetic variants in more than 100 genes, including the gene AUTS2, have been associated with autism spectrum disorders. However, the model systems used to study the mechanisms underlying how these genetic…

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Discovering the Genetic Causes of Congenital Heart Defects
 Discovering the Genetic Causes of Congenital Heart Defects 1024 575 Lauren Dembeck
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By studying the genomes of children and members of their family, researchers have discovered novel disease genes in families impacted by cardiac defects. Congenital heart disease is a leading cause of death in children under one year of age, and evidence supports a strong genetic component underlying this group of common developmental defects. However, historically,…

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Profiling the Tumor Microenvironment Offers New Insight for Hard-to-Treat Tumors
 Profiling the Tumor Microenvironment Offers New Insight for Hard-to-Treat Tumors 1024 269 Katie Brind'Amour, PhD, MS, CHES
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A multi-faceted approach to precision medicine may allow clinicians to gain a better understanding of cancer and the complex ecosystem in which it resides. The field of precision medicine has evolved in leaps and bounds in the past two decades. Genomic profiling tools that were once cost-prohibitive and slow are now reasonably affordable and fast…

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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 Roth
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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…

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

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Researchers Classify High-Risk Variants in Lamin A/C Cardiac Disease Using Machine Learning
 Researchers Classify High-Risk Variants in Lamin A/C Cardiac Disease Using Machine Learning 1024 575 Lauren Dembeck
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conceptual art of DNA

A recent study from researchers at Nationwide Children’s Hospital, published in Heart Rhythm, describes how a LMNA variant of unknown significance was identified as high-risk using family histories, genomic analysis and machine learning. “Genetic variants in LMNA are well known to cause a spectrum of clinical disease — referred to as laminopathies — particularly cardiomyopathy,…

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Study Supports Virotherapy as a Potential Treatment for Brain Tumors
 Study Supports Virotherapy as a Potential Treatment for Brain Tumors 1024 575 Nationwide Children's
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A new study provides additional evidence of the efficacy of virotherapy for glioblastoma, the deadliest type of brain tumor. The research findings, published in Clinical Cancer Research, indicate that an oncolytic herpes simplex virus, G207, appears to boost immune response and that this is associated with better overall survival for patients with glioblastoma. The study,…

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

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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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