Category: rare disease

Rare Primary Immunodeficiency Diseases and COVID-19: Evolving Insights and Implications for Clinical and Public Health Practice

shadows of three children with a COVID-19 virus and DNA

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 by Emily Drzymalla, Muin J. Khoury, and Marta Gwinn, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags ,

Rare Disease Day 2022: The Evolving Impact of Genomics and Precision Health

Rare Disease Day 2022 with a ribbon and a map of the world

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 by Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags

Introducing the Rare Diseases Genomics and Precision Health Knowledge Base

a black swan in a sea of white swans and DNA

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 Muin J. Khoury and Wei Yu, Office of Public Health Genomics. Centers for Disease Control and Prevention2 CommentsTags

What do women (and men) want? Parents weigh in on genetic testing for rare diseases in children

a block depicting a mother, a father and child holding hand with DNA

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 by Scott D. Grosse, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags ,

The need for a next-generation public health response to rare diseases.

a crowd of people in grey and one individual standing out in color and double helices on the border of the image

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 Rodolfo Valdez (guest blogger), Scott D. Grosse (guest blogger), National Center on Birth Defects and Developmental Disabilities & Muin J. Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention4 CommentsTags

Rare Diseases, Genomics and Public Health: An Expanding Intersection

Rare Diseases with DNA and an 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 Muin J. Khoury, Director, Office of Public Health Genomics; Rodolfo Valdez, epidemiologist, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention1 CommentTags

What is a “rare disease”? Polio eradication and primary immunodeficiency

a child getting the polio vaccine

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 >

Posted on by Marta Gwinn, Consultant, McKing Consulting Corp, Office of Public Health Genomics, Centers for Disease Control and PreventionLeave a commentTags , , ,