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genomic medicine

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’…

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…

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,…

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…

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,…