February 29 is Rare Disease Day:

February 29 is Rare Disease Day:

A new CDC blog post explores the role of public health and genomics in helping patients with rare diseases. For additional information on public health genomic information on rare diseases, search our Public Health Genomics Knowledge Base.

What's New

Last Updated: Feb 25, 2016

• The NIH BD2K center for big data in translational genomics.
  Paten Benedict et al. Journal of the American Medical Informatics Association : JAMIA 2015 Nov 22(6) 1143-7 (From Genomics & Health Impact Scan Database)
• Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.
  Cassis Linda et al. Orphanet journal of rare diseases 2015 (1) 164 (From Discoveries and Insights Database)
• Western Australia Rare Disease Strategic Framework 2015-2018[PDF 1.16 MB]
  (From Discoveries and Insights Database)
• The medical mystery tour
  C Northeast, Stanford University, WInter 2016 (From Discoveries and Insights Database)
• Rare Diseases, Genomics and Public Health: An Expanding Intersection
  CDC Blog Post (From CDC Information Database)
• What do you do when you have one of the rarest diseases around?
  Washington Post, February 16, 2016 (From Discoveries and Insights Database)
• How Rare is a Rare Disease?
  MA Wilson Eyres, EV Medicine Blog, February 2016 (From Discoveries and Insights Database)
• Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotype.
  Peng Guoping, et al. Orphanet journal of rare diseases 2016 0 (1) 13 (From HuGE Literature Finder)
• How to Find a Specialist
  Genetic counselors from the Genetic and Rare Diseases Information Center give advice on how to find a disease specialist (From Discoveries and Insights Database)
• The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.
  Karaceper Maria D et al. Orphanet journal of rare diseases 2016 11(1) 12 (From Genomics & Health Impact Scan Database)
• The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.
  Gahl William A et al. Molecular genetics and metabolism 2016 Jan (From Discoveries and Insights Database)
• Eosinophilic gastroenteritis in a patient with Bruton's tyrosine kinase deficiency.
  Yamazaki Susumu, et al. Pediatrics international : official journal of the Japan Pediatric Society 2016 2 (From HuGE Literature Finder)
• Rare Disease: The GP's role 
  Video from Genomics Education UK (From Discoveries and Insights Database)
• Research Round-up: Rare Disease Research
  Researchers seek to expand our understanding and develop new treatments, NICHD< February 1, 2016 (From Discoveries and Insights Database)
• February is American Heart Month. What are rare diseases involving the heart. 
  NIH Office of Rare Diseases (From Discoveries and Insights Database)
• Public Health and Rare Diseases: Oxymoron No More
  Valdez R, et al. Chronic Diseases Volume 13 January 14, 2016 (From CDC-Authored Genomics Publication Database)
• Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
  Diociaiuti Andrea et al. Orphanet journal of rare diseases 2016 11(1) 4 (From Genomics & Health Impact Scan Database)
• First genome project diagnoses give hope to two four-year-olds,
  by Ian Sample, the Guardian, January 11, 2016 (From Genomics & Health Impact Scan Database)