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Genetics

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

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

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High-Risk Genotype Impacts Kidney Disease Trajectory
 High-Risk Genotype Impacts Kidney Disease Trajectory 1024 575 Mary Bates, PhD
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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…

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

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How to Integrate Genomics into Clinical Practice
 How to Integrate Genomics into Clinical Practice 150 150 Abbie Miller
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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…

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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
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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…

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