Rare diseases 1 | https://phgkb.cdc.gov/GAPPKB/phgHome.do

https://phgkb.cdc.gov/GAPPKB/phgHome.do

Last Posted: Mar-03-2017 8AM

Last Posted: Mar 02, 2017

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• Advice from the Rare Disease Community  
  Genome Magazine, February 28, 2017
• The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results  
  D Baldridge et al, Genetics in Medicine, March 2, 2017
• Optimism on Rare Disease Day: With Research, Possibilities are Limitless  
  SP Denker, PLOS Blogs, February 2017
• Rare Disease Day 2017: Talia’s Story  
  R Lewis, PLOS Blogs, February 2017
• 10 Years of Rare Disease Day  
  RJY Munoz, Gene Therapy, February 2017
• What is a rare disease?  
  Rare Disease Day, February 2017
• Collaboration matters when looking for answers to undiagnosed diseases  
  Lab Blog, Baylor Medicine, February 10, 2017
• The need for a next-generation public health response to rare diseases.
  R Valdez et al, CDC Blog Post, February 2017
• The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease  
  Ramon RB et al, AJHG, February 2, 2017
• Clinical Practice Guidelines for Rare Diseases: The Orphanet Database.  
  Pavan Sonia et al. PloS one 2017 12(1) e0170365
• Family’s struggle with Batten disease mirrors the journey of others fighting rare diseases  
  Denver Post, January 20, 2017
• 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

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