Rare diseases

Last Posted: Dec-02-2016 8AM

 Rare Diseases expanded expanded

A comprehensive global genotype–phenotype database for rare diseases
R. Trujillano et al, Molecular Genetics and Genomic Medicine, November 2016

The Rise and Rise of Exome Sequencing
CS Ku et al, Public Health Genomics, November 2016

Finding your diagnosis in the brave new world of genetics-based medicine
J Hewitt, Medical Xpress, November 21, 2016

More information on this topic

Last Updated: Dec 01, 2016

• A comprehensive global genotype–phenotype database for rare diseases
  R. Trujillano et al, Molecular Genetics and Genomic Medicine, November 2016
• The Rise and Rise of Exome Sequencing
  CS Ku et al, Public Health Genomics, November 2016
• Finding your diagnosis in the brave new world of genetics-based medicine
  J Hewitt, Medical Xpress, November 21, 2016
• The need for a next-generation public health response to rare diseases.
  Valdez Rodolfo et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Oct
• Commonplace Sequencing Makes Disease Less Rare
  J Buguliskis, Clinical Omics, NOvember 1, 2016
• The need for a next-generation public health response to rare diseases
  R Valdez et al, Genetics in Medicine, October 27, 2016
• The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort
  CE Walker et al, Genetics in Medicine, September 22, 2016
• Medical disorders: Stop marginalizing rare syndromes
  SO Kolset, Nature, August 2016
• Collaborative Crowdsourcing for the Diagnosis of Rare Genetic Syndromes: The DYSCERNE Experience.
  Douzgou Sofia et al. Public health genomics 2016 19(1) 19-24
• Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases
  Kelly D. Farwell Hagman et al, Genetics in Medicine, August 11, 2016
• Ultra-rare Disease and Genomics-Driven Precision Medicine.
  Lee Sangmoon et al. Genomics & informatics 2016 Jun (2) 42-5
• Mom of first person saved by DNA sequencing fighting to increase access
  M Carstensen, Fix News, August 3, 2016
• The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practice.
  Nguyen M T et al. Clinical genetics 2015 Oct 88(4) 313-9
• Families Isolated By Rare Genetic Conditions Find New Ways To Reach Out,
  by Kat Snow, NPR, June 4, 2016
• Benefits and risks preferences for new medicines in rare diseases
  S Ayme, Biomed Central Blog, May 27, 2016

• CDC Information (1)
• CDC-Authored Pub (7)

• Human (31)
• Pathogen (0)

• Human (103)
• Pathogen (0)

• Human (29)
• Pathogen (0)

• Guidelines (4)
• Tier Table (0)
• Synthesis (5)

Relevant Resources

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