Last Posted: Mar 23, 2017
- Facial recognition software helps diagnose rare genetic disease- Soon, physicians may be able to diagnose by snapping a photo
J Mjoseth, NHGRI, March 2017
- Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.
Stinton Chris et al. Orphanet journal of rare diseases 2017 Mar 12(1) 48
- 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: Talias 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
- Familys 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