Last Posted: Feb 12, 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 - 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 - 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
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