Rare Diseases ► Public Health Genomics Knowledge Base (v1.0)

Public Health Genomics Knowledge Base (v1.0)

What's New

Last Updated: Mar 10, 2016

• Discovery of a gene associated with a set of poorly understood rare diseases,
  IRB Barcelona, March 2, 2016 (From Genomics & Health Impact Scan Database)
• Characteristics and Public Availability of Results of Clinical Trials on Rare Diseases Registered at Clinicaltrials.gov
  A deChartres et al, JAMA Internal Medicine, March 7, 2016 (From Discoveries and Insights Database)
• Discovery of a gene associated with a set of poorly understood rare diseases 
  IRB Barcelona, March 2, 2016 (From Discoveries and Insights Database)
• Whole-exome sequencing: A rational approach for 'diagnostic odyssey' patients
  Medical Xpress, March 1, 2016 (From Discoveries and Insights Database)
• February 29th is Rare Disease Day: 4 Reasons You Should Care,
  by Erica Barnes, Huffington Post Blog, February 26, 2016 (From Discoveries and Insights Database)
• The children living with the world's rarest diseases
  B Rose, BBC News, February 29, 2016 (From Discoveries and Insights Database)
• 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)
• The medical mystery tour
  C Northeast, Stanford University, WInter 2016 (From Discoveries and Insights Database)
• Western Australia Rare Disease Strategic Framework 2015-2018[PDF 1.16 MB]
  (From Discoveries and Insights Database)