Last Posted: Jan 18, 2022
- Mapping the evidence of multidimensional health approaches in treating individuals with Prader-Willi Syndrome: A scoping review protocol.
Che Din Normah et al. BMJ open 2022 12(1) e047638
- Rare Disease Day at NIH 2022
NIH, February 28, 2022
- Researchers shatter the speed record for diagnosing rare genetic diseases with DNA sequencing
J Wozen, StatNews, January 12, 2022
- Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics.
Halley Meghan C et al. American journal of medical genetics. Part A 2022
- Rare Genetic Diseases: Genomics is ending diagnostic odysseys for patients with rare diseases.
- Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US.
Hoover-Fong Julie E et al. Orphanet journal of rare diseases 2021 16(1) 522
- Automated reanalysis application to assist in detecting novel gene-disease associations after genome sequencing.
Mensah Nana E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
- Current Status of Genetic Counselling for Rare Diseases in Spain.
Álvaro-Sánchez Sara et al. Diagnostics (Basel, Switzerland) 2021 11(12)
- Client Service Receipt Inventory as a standardised tool for measurement of socio-economic costs in the rare genetic disease population (CSRI-Ra).
Chung Claudia C Y et al. Scientific reports 2021 11(1) 23837
- An Analysis of Medical Care Services for Children With Rare Diseases in the Russian Federation.
Volgina Svetlana Ya et al. Frontiers in pharmacology 2021 12754073
- Genomics elucidates both common and rare disease aetiology
A McNeil, EJHG, November 26, 2021
- New Clinical Trial Grants for Rare Diseases
R Rubin, JAMA, November 23, 2021
- Artificial Intelligence in Medical Imaging and its Impact on the Rare Disease Community: Threats, Challenges and Opportunities.
Hasani Navid et al. PET clinics 2021 17(1) 13-29
- Belzutifan for Renal Cell Carcinoma in von Hippel-Lindau Disease.
Jonasch Eric et al. The New England journal of medicine 2021 11 (22) 2036-2046
- Changing the Course of an Orphan Disease.
Schmidinger Manuela et al. The New England journal of medicine 2021 11 (22) 2090-2091
- Individualized Therapeutics Development for Rare Diseases: The Current Ethical Landscape and Policy Responses.
Bateman-House Alison et al. Nucleic acid therapeutics 2021
- NeoSeq: a new method of genomic sequencing for newborn screening.
Wang Huaiyan et al. Orphanet journal of rare diseases 2021 16(1) 481
- A Visual Phenotype-Based Differential Diagnosis Process for Rare Diseases.
Yang Jian et al. Interdisciplinary sciences, computational life sciences 2021
- 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
et al. The New England journal of medicine 2021 11 (20) 1868-1880
- Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
Cloney Thomas et al. Journal of medical genetics 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.