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10 results for rare diseases

Preventing Disease and Protecting Health Among Individuals at Increased Genetic Risk: A Lifespan Perspective and an Emerging Public Health Challenge

Since the completion of the Human Genome Project, major advances have occurred in the translation of human genome discoveries into clinical practice and disease prevention. As almost all human diseases are due to complex gene-environment interactions, the applications of human genomics should be pertinent to the prevention and control of many diseases, including rare and

Posted on by Muin J. Khoury, Office of Genomics and Precision Public Health, Office of Science, Centers for Disease Control and Prevention, Atlanta, Georgia; Karen Remley, National Center on Birth Defects and Developmental Disabilities, Atlanta, GeorgiaTags ,

Public Health Genomics at the Centers for Disease Control and Prevention: Happy 25th Anniversary!

Happy 25th Anniversary! Photos of the people of the Office of Genomics and Precision Public Health through the 25 years

In 1997, in response to the Human Genome Project, the CDC formed the Office of Genetics and Disease Prevention, now called the Office of Genomics and Precision Public Health (OGPPH). This was the beginning of the public health genomics movement in the United States and around the world. Our office continues to serve CDC programs,

Posted on by Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia1 Comment

From Guthrie to Genomes: The Continued Evolution of Newborn Screening

a newborn foot with sequencing and DNA

Two recent articles by Bick et al. and Watson et al. discussed the future of newborn screening and identified considerations and needs for the evolution of the newborn screening system as it tries to meet the growing demands to screen for more rare diseases and incorporate genomic technologies. As newborn screening (NBS) moves past 60

Posted on by Amy Gaviglio, MS, CGC, 4ES Corporation, Cynthia Hinton, PhD, Suzanne Cordovado, PhD, Rosemary Hage, PhD, and Carla Cuthbert, PhD, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention1 Comment

From Guthrie to Genomes: Expanding Bioinformatic Capabilities in Newborn Screening Programs

a newborn babies foot on sequencing with certain sequencing pointed to with a red arrow

Through a funding opportunity from CDC’s Office of Genomics and Precision Public Health in collaboration with the Office of Advanced Molecular Detection, CDC’s Newborn Screening and Molecular Biology Branch will conduct a two-year project to develop a streamlined national newborn screening (NBS) bioinformatics pipeline to help in expanding the use and utility of gene and

Posted on by Amy Gaviglio and Carla Cuthbert, Division Of Laboratory Sciences, Centers for Disease Control and PreventionTags

Public Health Genomics Priorities Through a Health Equity Lens

three individuals with one having a magnifying glass on him with a double helix

Achieving Health Equity in Genomics and Precision Medicine is More Important than Ever The CDC Office of Genomics and Precision Public Health is undergoing strategic planning to identify priorities and actions for genomics and precision medicine. As we embark on this work, we are focusing on health equity. The potential for genomics and precision medicine

Posted on by Muin J. Khoury, Scott Bowen, David Dotson, and Katherine Kolor, Office of Genomics and Precision Public Health, Office of Science, Centers for Disease Control and Prevention, Atlanta, GeorgiaTags

2020: A Challenging Year of Progress for Genomics and Precision Public Health

2020 with an arrow to 2021 with a double helix below and a COVID-19 virus and a masked family and under 2021 a person getting the COVID-19 vaccine

It is time to wrap up an eventful 2020 which unfortunately was dominated by the COVID-19 pandemic. From January 2020 through November 2020, we saw a major increase in visits to our website (> 2.6 million views, compared to 2 million views in 2019 and 1.2 million views in 2018). In our year end blog,

Posted on by Muin J. Khoury and Scott Bowen, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaTags ,

Genomic Medicine Year in Review 2020: Population-wide Implementation Research Has Arrived

Genomic Medicine - af figure looking at 2020 with a magnifying glass and a double helix

Advances in genomic medicine continue at a steady pace. In a December 2019 paper, The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research of the National Human Genome Research Institute (NHGRI) identified 10 papers with the most significant advances in the field. In our 2019 end of the year blog. we featured 5

Posted on by Muin J. Khoury and W. David Dotson, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaTags

Public Health Genomics: What’s Next?

a figure looking at a sign labeled Public Health Genomics with an arrow going to another sign labeled Precision Public Health and a double helix in the background

In the 1990’s, the excitement surrounding the Human Genome Project led the public health community to plan for the future role of genomics in health care and disease prevention. The field of public health genomics was launched to identify opportunities for the new science to impact health, inform public health programs and health care providers

Posted on by Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia

Your Top 10 Public Health Genomics Knowledge Base Searches in 2018!

Top 10 2018 on building blocks

Genetic counseling, Alzheimer’s disease, and personal genomics top the list. Top 2018 PHGKB Search Terms Genetic counseling Alzheimer’s disease Personal Genomics Autism Disparities Nutrigenomics Familial Hypercholesterolemia Precision Public Health Precision Medicine Rare Diseases Recently, USA Today revealed 2018’s most popular Google search terms with (the) “World Cup” topping the list. Aptly named, the event, taking

Posted on by Scott Bowen and Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia

The Road Less Traveled: Genomic Epidemiology Capacity in State Public Health Programs

a road not traveled much with sequencing

In 2017, the Council of State and Territorial Epidemiologists (CSTE) published its latest Epidemiology Capacity Assessment of state health departments’ workforce size and resources. The assessment inquired about the number of current and optimal epidemiologist positions; sources of epidemiology activity and funding; and states’ self-perceived capacity to lead epidemiology activities, provide expertise, and manage resources

Posted on by Muin J. Khoury and Marta Gwinn, Office of Public Health Genomics (OPHG), Centers for Disease Control and Prevention, Atlanta, Georgia