Rare diseases :: Public Health Genomics Knowledge Base (v1.0)

Public Health Genomics Knowledge Base (v1.0)

RARE DISEASES: GENOMICS AND PUBLIC HEALTH

Last Updated: Apr 11, 2016

• Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases
  R Chen, Nat Biotech, April 11, 2016
• Buffer genes’ may protect these 13 people from rare genetic diseases
  J Kaiser, Science, April 11, 2016
• Rare Disease Day® 2016 Highlights 
  Youtube video, April 2016
• Survey of healthcare experiences of Australian adults living with rare diseases.
  Molster Caron et al. Orphanet journal of rare diseases 2016 11(1) 30
• Molecular Answers Found for a Mysterious Rare Immune Disorder
  Francis Collins, NIH Director, Blog Post, March 29, 2016
• Importance of glucokinase -258G/A polymorphism in Asian Indians with post-transplant and type 2 diabetes mellitus.
  Khan Imran Ali, et al. Intractable & rare diseases research 2016 2 (1) 25-30
• The Quality of Rare Disease Registries: Evaluation and Characterization.
  Coi Alessio et al. Public health genomics 2016 Mar
• Discovery of a gene associated with a set of poorly understood rare diseases,
  IRB Barcelona, March 2, 2016
• 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
• Discovery of a gene associated with a set of poorly understood rare diseases 
  IRB Barcelona, March 2, 2016
• February 29th is Rare Disease Day: 4 Reasons You Should Care,
  by Erica Barnes, Huffington Post Blog, February 26, 2016
• Whole-exome sequencing: A rational approach for 'diagnostic odyssey' patients
  Medical Xpress, March 1, 2016
• The children living with the world's rarest diseases
  B Rose, BBC News, February 29, 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
• 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
• Western Australia Rare Disease Strategic Framework 2015-2018[PDF 1.16 MB] 
• The medical mystery tour
  C Northeast, Stanford University, WInter 2016
• Rare Diseases, Genomics and Public Health: An Expanding Intersection
  CDC Blog Post
• What do you do when you have one of the rarest diseases around?
  Washington Post, February 16, 2016
• How Rare is a Rare Disease?
  MA Wilson Eyres, EV Medicine Blog, February 2016
• 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
• How to Find a Specialist
  Genetic counselors from the Genetic and Rare Diseases Information Center give advice on how to find a disease specialist
• 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
• The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.
  Gahl William A et al. Molecular genetics and metabolism 2016 Jan
• 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
• Rare Disease: The GP's role 
  Video from Genomics Education UK
• Research Round-up: Rare Disease Research
  Researchers seek to expand our understanding and develop new treatments, NICHD< February 1, 2016
• February is American Heart Month. What are rare diseases involving the heart. 
  NIH Office of Rare Diseases
• Public Health and Rare Diseases: Oxymoron No More
  Valdez R, et al. Chronic Diseases Volume 13 January 14, 2016
• Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
  Diociaiuti Andrea et al. Orphanet journal of rare diseases 2016 11(1) 4

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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

Public Health Genomics Knowledge Base (v1.0)