Last Posted: Apr 21, 2017
- Massive-scale genomic data sharing to improve rare disease diagnosis
D MacArthu8r VIDEO presentation, Scripps Institute, Future of Genomic Medicine 2017 - Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
BB Cummings et al, Sci Trans Med, April 19, 2017 - Searching for a diagnosis: a network of doctors tries to solve medical mysteries
A Gorman, Stat News, April 20, 2017 - ApreciseKUre: an approach of Precision Medicine in a Rare Disease.
Spiga Ottavia et al. BMC medical informatics and decision making 2017 Apr 17(1) 42 - Parent training education program: a pilot study, involving families of children with Prader-Willi syndrome.
Kodra Yllka et al. Annali dell'Istituto superiore di sanita 52(3) 428-433 - Facial recognition software helps diagnose rare genetic disease
NHGRI, March 2017 - Where lost diseases go.
Proto Magazine, 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: 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
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