CDC/NIH Web Information Database

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Last data update: Jan 27, 2023. (Total: 8726 Documents)

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CDC/NIH Web Information
Rare Disease Day at NIH 2023 NIH, December 2022
From Guthrie to Genomes: The Continued Evolution of Newborn Screening A Gaviglio et al, CDC Blog Post, August 15, 2022
From Guthrie to Genomes: Expanding Bioinformatic Capabilities in Newborn Screening Programs A Gaviglio et al, CDC Blog Post, March 21, 2022
Bespoke Gene Therapy Consortium NIH, October 2021
NIH, FDA and 15 private organizations join forces to increase effective gene therapies for rare diseases NIH press release, October 27, 2021
Muscular Dystrophy CDC, 2021
Rare Diseases Registry Program (RaDaR) NIH, July 2021
PaVe-GT: Collaborative NIH Effort Aimed at Creating a Gene Therapy Playbook, Making Rare Disease Treatments More Accessible NIH NCATS, November 30, 2020
Rare Diseases and COVID-19 CDC COVID-19 Genomics and Precision Health Portal, August 2020
NIH-supported research survey to examine impact of COVID-19 on rare diseases community NIH, May 7, 2020
Encouraging News for Kids with Neurofibromatosis Type 1 NIH Director's Blog, March 24, 2020
NCATS Rare Diseases Are Not Rare! 2020 Challenge Details NCATS, March 2020
Novel lab-on-a-chip blood tests could greatly expand newborn exams for rare diseases NHLBI, February 27, 2020
Rare Disease Day 2020 NIH, February 28, 2020
One Little Girl’s Story Highlights the Promise of Precision Medicine F Collins, NIH director's blog, October 23, 2019
Assessing Gene-Environment Interactions in the Study of Rare Diseases CDC Webinar, August 21, 2019
Rare Diseases Public Health Genomics Knowledge Base CDC Office of Public Health Genomics , 2019
About Rare Cancers NCI Information, 2019
Thoughts from the Front Lines of Rare Disease Research NIH Directors Blog, February 28, 2019
Nitisinone increases melanin in people with albinism NIH News Release, February 20, 2019
Rare Diseases Are Not Rare! C Austin, NIH, February 2019
DEAF1-associated disorders From NCATS Genetic and Rare Diseases Information Center
Hemochromatosis type 5 From NCATS Genetic and Rare Diseases Information Center
Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related From NCATS Genetic and Rare Diseases Information Center
Jackhammer esophagus From NCATS Genetic and Rare Diseases Information Center
Papular epidermal nevi with skyline basal cell layers syndrome From NCATS Genetic and Rare Diseases Information Center
Plasmacytoma From NCATS Genetic and Rare Diseases Information Center
Neuroendocrine tumor From NCATS Genetic and Rare Diseases Information Center
Bain type of X-linked syndromic intellectual disability From NCATS Genetic and Rare Diseases Information Center
Congenital Zika syndrome From NCATS Genetic and Rare Diseases Information Center