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Institute for Genomic Medicine

Featured Researcher: Mykyta Artomov, PhD
 Featured Researcher: Mykyta Artomov, PhD 150 150 Gina Vitale, PTA
By: Gina Vitale, PTA

Bioinformatics combines the natural sciences and information technology. This rapidly developing field has become an essential piece of genomic medicine, which is currently experiencing unprecedented scientific progress in understanding inherited susceptibilities for many diseases – identification of disease risk genes, pathways and affected cell types. Mykyta Artomov, PhD, is a principal investigator in the Steve…

Meet Our Expert: Albert Isaacs, MD, PhD, Neurosurgeon and Genomic Scientist
 Meet Our Expert: Albert Isaacs, MD, PhD, Neurosurgeon and Genomic Scientist 864 576 Lauren Dembeck
By: Lauren Dembeck

Albert Isaacs, MD, PhD, is a pediatric neurosurgeon at Nationwide Children’s Hospital and an assistant professor of Neurological Surgery at The Ohio State University College of Medicine. His research focuses on uncovering the molecular and immunologic drivers of neonatal hydrocephalus, with the goal of developing preventative treatments for at-risk infants. Dr. Isaacs’ extensive background and…

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 diagnosing and guiding treatment for many conditions that affect pediatric patients.…

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 into the urine causing a variety of complications. FSGS has an…

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 of translational protocols. “Our team works with researchers, clinicians and others…

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 director of the Steve and Cindy Rasmussen Institute for Genomic Medicine…

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 neonatal intensive care units (NICUs), but knowing which babies are sick…

Identifying Ancestry-Based Predictors of Survival in Black Patients with Acute Myeloid Leukemia
 Identifying Ancestry-Based Predictors of Survival in Black Patients with Acute Myeloid Leukemia 1024 768 Alaina Doklovic
By: Alaina Doklovic

Researchers use multiomic profiling to understand ancestry-specific aspects of cancer onset and outcomes. In a recent study, published in ­­­Nature Genetics, researchers from Nationwide Children’s Hospital and The Ohio State University Comprehensive Cancer Center (OSUCCC – James) compared genomic profiles of patients diagnosed with AML having self-reported and genomically-confirmed African ancestry and to patients diagnosed…

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…

New Frontiers for Data Science in Pediatric Research
 New Frontiers for Data Science in Pediatric Research 1024 577 Peter White, PhD
By: Peter White, PhD

From discovery science to population health, researchers generate masses of data that hold immense potential to transform pediatric research, diagnostics, treatments and even guide disease prevention strategies. To make sense of this data deluge, we’ve been harnessing the power of cloud computing and cutting-edge data science techniques, such as artificial intelligence (AI), machine learning (ML)…

Novel Immunotherapy Approach Enhances Immune Surveillance in Gliomas
 Novel Immunotherapy Approach Enhances Immune Surveillance in Gliomas 1024 575 Lauren Dembeck
By: Lauren Dembeck

Genetically engineered myeloid cells release interleukin-2, which helps the immune system overcome the immunosuppressive tumor microenvironment in gliomas.   Gliomas — tumors originating from the neuronal support (glial) cells of the central nervous system — are one of the leading causes of cancer-related death in adolescents and young adults. Approximately two-thirds of gliomas in these…

Innovations in Pediatric Cancer and Transplants: Q&A With Sara K. Rasmussen, MD, PhD
 Innovations in Pediatric Cancer and Transplants: Q&A With Sara K. Rasmussen, MD, PhD 150 150 Pam Georgiana
By: Pam Georgiana

Sara K. Rasmussen, MD, PhD, is a transplant and pediatric surgeon in the Department of Abdominal Transplant and Hepatopancreatobiliary Surgery and an associate principal investigator in the Center for Clinical and Translational Research in the Abigail Wexner Research Institute at Nationwide Children’s Hospital. She earned both her medical and doctoral degrees from West Virginia University…

Researchers Create Public Database of Nearly 40,000 Control Samples for Genetic Association Studies
 Researchers Create Public Database of Nearly 40,000 Control Samples for Genetic Association Studies 1024 575 Lauren Dembeck
By: Lauren Dembeck
conceptual art of DNA

Genetic association studies provide powerful means of discovering relationships between genetic variants and disease risk. However, these studies require enrolling very large numbers of individuals with the disease (cases) and healthy individuals (controls) as well as collecting genetic data for all of those participants — a time-consuming and expensive endeavor. “Sequencing DNA for a healthy…

New Zebrafish Pipeline Enables Functional Evaluation of Novel, Rare, Fusion-Oncogenes in vivo
 New Zebrafish Pipeline Enables Functional Evaluation of Novel, Rare, Fusion-Oncogenes in vivo 1024 683 Jessica Nye, PhD
By: Jessica Nye, PhD

An innovative method that uses a zebrafish model to rapidly study novel fusion-oncogenes in vivo has been developed by investigators at Nationwide Children’s Hospital.   Fusion oncogenes are frequently observed in pediatric cancers. These fusion oncogenes are typically caused by a chromosomal translocation that produces gain-of-function chimeric gene activity. Although there has been experimental work…

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…

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…

1 Year In, the Molecular Characterization Initiative Has Analyzed Samples From Over 1,000 Patients
 1 Year In, the Molecular Characterization Initiative Has Analyzed Samples From Over 1,000 Patients 1024 614 Abbie Miller
By: Abbie Miller
abstract art of magnifying glass over DNA strand

Data from the analysis helps clinicians confirm diagnoses and identify targeted treatments. The data also support new pediatric cancer research through the National Cancer Institute’s Childhood Cancer Data Initiative.   The CCDI Molecular Characterization Initiative (MCI) is a project that aims to collect, analyze and report clinical and molecular data and is currently supporting Children’s…

Advancing Genomics-Driven Precision Medicine in the NICU
 Advancing Genomics-Driven Precision Medicine in the NICU 1024 683 Natalie Wilson
By: Natalie Wilson

According to the Children’s Hospitals Neonatal Consortium, as many as half of newborns hospitalized in level IV neonatal intensive care units (NICUs) due to critical illness have an underlying genetic condition. Most don’t get their diagnosis for months or even years. However, clinical assays, new testing modalities and clinical trials are improving their care. Advanced…

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 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
By: Lauren Dembeck
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…

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
By: Katie Brind'Amour, PhD, MS, CHES

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’…

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
By: Lauren Dembeck
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…

Discovering the Genetic Causes of Congenital Heart Defects
 Discovering the Genetic Causes of Congenital Heart Defects 1024 575 Lauren Dembeck
By: Lauren Dembeck

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,…

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
By: Katie Brind'Amour, PhD, MS, CHES

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…

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…

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
By: Lauren Dembeck
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,…

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
By: Nationwide Children's

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,…

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.…

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
By: Katie Brind'Amour, PhD, MS, CHES

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…

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
By: JoAnna Pendergrass, DVM
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…

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
By: Eric Butterman
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…

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…

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
By: Lauren Dembeck

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…

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
By: Mary Bates, PhD

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…

New Model Provides Novel View of Congenital Heart Disease
 New Model Provides Novel View of Congenital Heart Disease 150 150 Lauren Dembeck
By: Lauren Dembeck

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…

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…

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…