Rare Diseases ▲ Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)

Last Posted: Jan-18-2017 6AM

 Rare Diseases expanded expanded

Rare Disease Day 2017 

A mysterious method of gene control sheds its secrets
J Couzin-Frankel, Science, January 12, 2017

Rare Disease Day, February 27, 2017 
NIH, National Centers for Advancement of Translational Sciences

More information on this topic

Last Posted: Jan 14, 2017

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• Rare Disease Day 2017 
• A mysterious method of gene control sheds its secrets
  J Couzin-Frankel, Science, January 12, 2017
• $2.1 Trillion Spent on Personal Health Care. Where are the Rare Diseases?
  J Radke, RareDR Report, January 3, 2016
• TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.
  Kingswood John C et al. Orphanet journal of rare diseases 2017 Jan 12(1) 2
• Rare Disease Day, February 27, 2017 
  NIH, National Centers for Advancement of Translational Sciences
• How Machine Learning Is Revolutionizing the Diagnosis of Rare Diseases
  JC Hu, NBC, January 4, 2016
• Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
  JE Posey et al, NEJM, December 7, 2016
• When One Diagnosis Is Not Enough
  KM Boycott et al, NEJM, December 7, 2016
• A comprehensive global genotype–phenotype database for rare diseases
  R. Trujillano et al, Molecular Genetics and Genomic Medicine, 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
• Comorbidities and pharmacotherapies in patients with Gaucher disease type 1: The potential for drug-drug interactions.
  Utz Jeanine et al. Molecular genetics and metabolism 2016 Feb 117(2) 172-8
• 'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.
  Lochmüller Hanns et al. European journal of human genetics : EJHG 2016 Oct
• Commonplace Sequencing Makes Disease Less Rare
  J Buguliskis, Clinical Omics, NOvember 1, 2016
• The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks.
  Baldo Chiara et al. Orphanet journal of rare diseases 2016 Oct 11(1) 142
• The need for a next-generation public health response to rare diseases
  R Valdez et al, Genetics in Medicine, October 27, 2016

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Most Recent Scientific Publications from Weekly Horizon Scans

From Genomics & Health Impact Scan Database

This database includes published scientific literature on evidence-based translation of genomic discoveries into improved health care and disease prevention that have a potential impact on population health.

• TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.
  Kingswood John C et al. Orphanet journal of rare diseases 2017 Jan 12(1) 2
• $2.1 Trillion Spent on Personal Health Care. Where are the Rare Diseases?
  J Radke, RareDR Report, January 3, 2016
• How Machine Learning Is Revolutionizing the Diagnosis of Rare Diseases
  JC Hu, NBC, January 4, 2016
• A comprehensive global genotype–phenotype database for rare diseases
  R. Trujillano et al, Molecular Genetics and Genomic Medicine, November 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

more