Last Posted: May 06, 2017
- International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
KM Boycott et al, AJHG, May 4, 2017
- Life with a Rare Genetic Disease: The Science, the Suffering and the Hope
M Angrist, New York Times, April 28, 2017
- When even genome sequencing does not provide a diagnosis.
Tech Review, April 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: Talias Story
R Lewis, PLOS Blogs, February 2017
- 10 Years of Rare Disease Day
RJY Munoz, Gene Therapy, February 2017