Last Posted: May 11, 2021
- Rare diseases: past achievements and future prospects
B Tumiene, J Comm Genetics, May 4, 2021
- Shaping national plans and strategies for rare diseases in Europe: past, present, and future
V Hedley et al, J Comm Genetics, May 5, 2021
- Solving unsolved rare neurological diseases—a Solve-RD viewpoint
R Schule et al, EJHG, May 10, 2021
- Next-generation sequencing and the evolution of data sharing.
de Macena Sobreira Nara Lygia et al. American journal of medical genetics. Part A 2021
- Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations.
Stephenson Kirk A J et al. Orphanet journal of rare diseases 2021 16(1) 200
- "It seems like COVID-19 now is the only disease present on Earth": living with a rare or undiagnosed disease during the COVID-19 pandemic.
Halley Meghan C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 1 (5) 837-844
- How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system.
Berger Alexandra et al. Orphanet journal of rare diseases 2021 16(1) 198
- Optimizing language for effective communication of gene therapy concepts with hemophilia patients: a qualitative study.
Hart Daniel P et al. Orphanet journal of rare diseases 2021 16(1) 189
- Gene therapy may not be as expensive as people think: challenges in assessing the value of single and short-term therapies.
Garrison Louis P et al. Journal of managed care & specialty pharmacy 2021 27(5) 674-681
- Milestone stem cell transplant helps child beat rare disease
D Sashin, Stanford Scope, April 28, 2021
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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.