Last Posted: Sep 18, 2019
- Value of the Rare Disease Registry of the Italian Region Friuli Venezia Giulia.
Valent Francesca et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2019 Sep 22(9) 1003-1011
- Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
SN Wakap et al, Eur J Hum Genetics, September 16, 2019
- After nearly dying five times, a young doctor learned to treat himself. Now he wants to help others with rare disease
M Herper, StatNews, September 12, 2019
- This med student was given last rites before finding a treatment that saved his life. His method could help millions
R Pryor, CNN, September 14, 2019
- Children with rare inherited condition to benefit from drug through managed access agreement
NICE, UK, September 11, 2019
- When You Don’t Know, You Feel Alone in the World’ The odyssey of the undiagnosed.
DE Bechard, Stanford Magazine, Summer 2019
- Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations.
Whiffin Nicola et al. JAMA 2019 Aug
- One Scientist’s Quest to Bring DNA Sequencing to Every Sick Kid
SE Richards, WIRED, August 2019
- Therapeutic advances in SMA.
Ludolph Albert C et al. Current opinion in neurology 2019 Oct 32(5) 777-781
- The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders
Genetics in Medicine, August 28, 2019
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