Last Posted: Jan 14, 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 genotypephenotype 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