Find out how genomics is changing the landscape of rare diseases.

Find out how genomics is changing the landscape of rare diseases.

Search Result Summary

CDC Resources

• CDC Web Information (0)
• CDC-Authored Genomics Publications (7)

Discoveries and Insights

• Hot Topics (32)
• Genomics & Health Impact Scan (8)
AMD Weekly Clips (0)

Epidemiology

• Human Genome Epidemiology (90)
• AMD Clips (0)

Translational Research

• Genomics & Health Impact Scan (12)
• AMD Weekly Clips (0)

Evidence Synthesis

• Guidelines (4)
• Evidence Classification (0)
• Genomics & Health Impact Scan (9)

Practice and Implementation

• Implementation (1)
• Genomics & Health Impact Scan (5)

Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB

What's New

Last Updated: Jan 28, 2016

• 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)
• First child 'DNA diagnoses' in NHS project
  J Gallagher, BBC News, January 11, 2016 (From Discoveries and Insights Database)
• First genome project diagnoses give hope to two four-year-olds 
  I Sample, the Guardian, January 11, 2016 (From Discoveries and Insights 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 10(1) 164 (From Genomics & Health Impact Scan Database)
• Rare Diseases Day, February 29, 2016 
  (From Discoveries and Insights Database)
• Pennsylvania Genetic Services Program
  Disease: Multiple Diseases; Type: General Information; State: Pennsylvania (From Implementation Database)
• Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
  Jeannesson-Thivisol Elise, et al. Orphanet journal of rare diseases 2015 0 (1) 158 (From HuGE Literature Finder)
• A decade of innovation in rare diseases: 2005-2015
  PhRMA, December 2015 (From Discoveries and Insights Database)
• Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers.
  Vignoli Aglaia, et al. Orphanet journal of rare diseases 2015 0 154 (From HuGE Literature Finder)
• The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension.
  Gahl William A et al. JAMA 2015 Nov 314(17) 1797-8 (From Genomics & Health Impact Scan Database)
• The high-risk world of rare genetic diseases
  A Porterfield, Genetic Literacy Project, October 30, 2015 (From Discoveries and Insights Database)
• Lifetime of Seeking Rewarded with a Diagnosis
  J Briggs, individualized medicine blog, October 30, 2015 (From Discoveries and Insights Database)
• The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I).
  Hernández-Porras Isabel, et al. Rare diseases (Austin, Tex.) 2015 0 (1) e1045169 (From HuGE Literature Finder)
• 47 patients with FLNA associated periventricular nodular heterotopia.
  Lange Max, et al. Orphanet journal of rare diseases 2015 0 134 (From HuGE Literature Finder)
• A global reference for human genetic variation.
  et al. Nature 2015 Sep 526(7571) 68-74 (From Genomics & Health Impact Scan Database)