Category: rare disease
Rare Primary Immunodeficiency Diseases and COVID-19: Evolving Insights and Implications for Clinical and Public Health Practice
In this post, we explore how new research on rare genetic diseases is contributing to our understanding of COVID-19 occurrence and outcomes and discuss potential clinical and public health implications. Understanding the mechanisms involved in these inherited disorders may shed light on biological mechanisms and natural history of COVID-19. Primary Immunodeficiency and COVID-19 Primary immunodeficiency (PI)—often Read More >
Posted on byRare Disease Day 2022: The Evolving Impact of Genomics and Precision Health
In celebration of Rare Disease Day 2022, we reprint excerpts of four previous blogs. Rare Diseases, Genomics and Public Health: An Expanding Intersection (February 17, 2016) Rare Disease Day is celebrated on the last day of February each year. On that day, millions of patients and their families around the world share their stories in order Read More >
Posted on byIntroducing the Rare Diseases Genomics and Precision Health Knowledge Base
For the past three years, The CDC Public Health Genomics Knowledge Base (PHGKB) has been tracking the public health impact of advances in genomics and precision technologies. Every day, we provide new information and publications for researchers, health care providers, policy makers, and the general public. We also offer access to the latest epidemiologic and Read More >
Posted on by 2 CommentsWhat do women (and men) want? Parents weigh in on genetic testing for rare diseases in children
Genetic testing in children has traditionally focused on conditions with clinical actionability or utility. However, parents may want to know whether their child is at high risk of a rare disease even if a treatment doesn’t exist. A newly published article reports on a study conducted by researchers at RTI International and the University of Read More >
Posted on byThe need for a next-generation public health response to rare diseases.
In recognition of Rare Disease Day 2017, we republish, with permission, a modified extract from our recent commentary in Genetics in Medicine. Few public health research activities trigger stronger calls to public health action than research into the burden of disease. This research uses standard measures to quantify actual or potential losses that populations may Read More >
Posted on by 4 CommentsRare Diseases, Genomics and Public Health: An Expanding Intersection
Rare Disease Day is celebrated on the last day of February each year. On that day, millions of patients and their families around the world share their stories in order to raise awareness about rare diseases and their impact. There are thousands of diseases that are individually rare but collectively common. In the United States, Read More >
Posted on by 1 CommentWhat is a “rare disease”? Polio eradication and primary immunodeficiency
During the last two decades, surveillance and strategic vaccination campaigns deployed by the Global Polio Eradication Initiative (GPEI) have reduced polio incidence worldwide by more than 99 percent. Wild poliovirus (WPV) cases are now uncommon, with only 222 new cases reported worldwide so far in 2014.* Endemic transmission is now limited to areas of just Read More >
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