Rare Diseases

The Sound of Silence: The Impact of “Silent” Genetic Variation in Health and Disease
The Sound of Silence: The Impact of “Silent” Genetic Variation in Health and Disease 1024 575 Lauren Dembeck

Despite widespread scientific interest in messenger RNA (mRNA) structure, its role in human health and disease remains poorly understood. Researchers at Nationwide Children’s Hospital have developed novel software and metrics to identify “silent” genetic variants that affect mRNA folding and may underlie rare genetic disorders. Historically, synonymous or “silent” genetic variants — those in protein-coding…

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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
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
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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