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Genetics

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…

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…

How Common is the Duffy Null Polymorphism Among Children With Sickle Cell Disease? Does It Affect Treatment?
 How Common is the Duffy Null Polymorphism Among Children With Sickle Cell Disease? Does It Affect Treatment? 1024 683 Pam Georgiana
By: Pam Georgiana

Recent research shows that a commonly inherited polymorphism could impact outcomes. At a recent hematology team meeting, Susan E. Creary, MD, and colleagues found themselves discussing the Duffy null, a common genetic condition in which the Duffy antigen is not found on red blood cells, might affect children with sickle cell disease. This is because…

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…

Unraveling the Genetic Mystery Behind a Rare Pediatric Disease
 Unraveling the Genetic Mystery Behind a Rare Pediatric Disease 980 429 Wendy Margolin
By: Wendy Margolin

Prune belly syndrome (PBS) is a rare, congenital urologic disease, affecting an estimated 1 out of 50,000 births. While most urologists will see fewer than three cases of PBS in their careers, Nationwide Children’s Hospital’s Linda Baker, MD, has treated more than 50 patients and met and counseled nearly 200 in the last 15 years.…

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…

Researchers Create a Stem Cell Line to Study Alagille Syndrome
 Researchers Create a Stem Cell Line to Study Alagille Syndrome 1024 683 Mary Bates, PhD
By: Mary Bates, PhD

The patient-derived iPSCs have a mutation affecting the Notch signaling pathway. Researchers at Nationwide Children’s have developed an induced pluripotent stem cell (iPSC) line derived from a patient with Alagille syndrome, a multisystem genetic disease. Like the majority of patients with Alagille syndrome, the stem cells have a pathogenic mutation in the JAG1 gene, part…

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…

Deep Brain Stimulation Ameliorates Symptoms of Genetic Movement Disorder
 Deep Brain Stimulation Ameliorates Symptoms of Genetic Movement Disorder 150 150 Mary Bates, PhD
By: Mary Bates, PhD

First report of DBS for management of tremor in a treatment-resistant AIFM1-related disorder.   In a new case series, researchers from Nationwide Children’s report using deep brain stimulation (DBS) to help manage tremor due to a genetic movement disorder in two brothers. The report, published in the journal Pediatric Neurology, suggests DBS may be useful…

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…

High-Risk Genotype Impacts Kidney Disease Trajectory
 High-Risk Genotype Impacts Kidney Disease Trajectory 1024 575 Mary Bates, PhD
By: Mary Bates, PhD
conceptual art of DNA

Patients with focal segmental glomerulosclerosis that possess two variations in the APOL1 gene experience more rapid progression of kidney disease. In a new study, researchers from Nationwide Children’s and other institutions quantified the relationship between a high-risk genotype and kidney disease progression in patients with focal segmental glomerulosclerosis (FSGS). The researchers leveraged data from the…

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…

Secondary Findings: What Should Be Reported?
 Secondary Findings: What Should Be Reported? 150 150 Brianne Moore
By: Brianne Moore

With the growing use of exome and genome sequencing in research and diagnosis, the ACMG has recently released a policy update on the reporting of secondary findings. Genomic sequencing is instrumental in identifying many diseases. It can also reveal disease causing variants in our genetic code unrelated to the reason the clinical exome or genome…

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…

Study Finds Genetic Loci Associated With Anxiety and Aggression in Dogs: What Does It Mean for Kids?
 Study Finds Genetic Loci Associated With Anxiety and Aggression in Dogs: What Does It Mean for Kids? 150 150 Carlos E. Alvarez, PhD
By: Carlos E. Alvarez, PhD

Principal investigator Carlos Alvarez, PhD, reports the genome wide mapping of nine fear and aggression traits in dogs and discusses the implications of the findings. Anxiety disorders are the most common type of mental illness in the United States. They are associated with increased risk of schizophrenia, depression, addiction and other psychiatric disorders. While much…