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10 results for rare diseases
Preeclampsia, Genomics and Public Health
A recent study identified a cell free RNA (cfRNA) signature that was promising in predicting pre-eclampsia several weeks before the onset of symptoms. At 29 weeks pregnant, Erica was diagnosed with preeclampsia, a pregnancy complication marked by high blood pressure and signs of organ failure, most often liver or kidney damage. According to the Mayo
Posted on by 3 CommentsCan’t Stop, Won’t Stop: The Resiliency of Newborn Screening Programs during the COVID-19 Pandemic
A recent article identified the impact of the COVID-19 pandemic on the newborn screening system and highlighted the importance of collaboration and technical assistance to ensure ongoing operations of this essential public health service. The ongoing COVID-19 pandemic stressed, disrupted, and fundamentally changed the public health system in the United States. While much of the
Posted on byPrecision Public Health in Action: New CDC Pilot Projects Integrate Human Genomics into Public Health Surveillance and Applied Research
In collaboration with the CDC Office of Advanced Molecular Detection, we recently launched a new, five-year initiative to strengthen public health capacity by introducing elements of human genomics into both public health surveillance and applied research. We report here on the successful launch of one of the initiative’s components. The Office of Genomics and Precision Public
Posted on byApplications of Polygenic Risk Scores to Population Health: Where Are We?
An international multidisciplinary group of experts in genetics, law, ethics, behavioral sciences, and other fields reviews the state of science on polygenic scores and highlights risks and gaps before widespread use in practice. Polygenic risk scores (PRS) combine the small effects of many genes across the human genome to estimate the risk of a disease
Posted on byThe Science of Gene-Environment Interaction at the Centers for Disease Control and Prevention and Agency for Toxic Substances and Disease Registry
Now, more than ever, we are aware that our environment has implications for our health. We are also learning more about the effects of inherited traits, such as blood type, on disease susceptibility and progression. Understanding the interactions between our environment and our genes and how they affect health outcomes offers a multitude of potential
Posted on byLarge-Scale Population Studies as a Path to Personalized Medicine: Easier Said than Done!
For more than two decades, advances in genomics have promised a new era of personalized or precision medicine (i.e., the right intervention to the right person at the right time). Scientific evaluation of new gene discoveries has been aided by the launch of large-scale epidemiologic and clinical collaborative global studies. In a recent commentary, McCarthy
Posted on byHost Genomics and COVID-19: One Year Later
Unprecedented global research collaborations in human genomics provide a model for research in response to a pandemic. Early in the COVID-19 pandemic, we discussed the role of research on human genetics in the investigation of SARS-CoV-2 infection and outcomes. We now know more about the wide variation in host response, from asymptomatic infection to
Posted on bymRNA COVID-19 Vaccines: An Incredible Feat of Genomic Technology
In December 2020, less than a year after the SARS-CoV-2 virus was identified, two COVID-19 vaccines manufactured by Pfizer-BioNTech and Moderna were approved for use in the United States under an Emergency Use Authorization by the U.S. Food and Drug Administration (FDA). Never has a U.S. vaccine been developed so quickly, and genome technology made
Posted on by 2 CommentsA New Vision for Using Genomics to Improve Health: An Expanded Role for Public Health
The National Human Genome Research Institute (NHGRI) recently published a new strategic vision 2020 to identify research priorities and opportunities in human genomics for improving health. The framework includes four main areas: guiding principles and values, a robust foundation for genomics, breaking down barriers that impede progress, and compelling research projects. Since the completion of
Posted on by 1 CommentPublic Health is Striving Towards More Precision
In the past few years, the term “precision medicine” has become firmly established in the modern biomedical research enterprise. More recently, the term “precision” has made its way to the realm of public health. We and others have contributed to the discourse on precision public health and its relation to precision medicine. But not everyone
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