Last Posted: Mar 06, 2023
- Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas Manuel A, et al. PLoS genetics 2018 0 (5) e1007329
- Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.
Mahdieh Nejat, et al. Scientific reports 2021 0 (1) 3231
- Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.
Magdy Rofaida M et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2021
- Recent Advancements in the Diagnosis and Treatment of Leukodystrophies.
Bradbury Allison M et al. Seminars in pediatric neurology 2021 37100876
- Current Clinical Applications of in vivo Gene Therapy with AAVs.
Mendell Jerry R et al. Molecular therapy : the journal of the American Society of Gene Therapy 2020 Dec
- NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
Singh Kanika et al. BMC medical genetics 2020 Nov 21(1) 216
- Local Coverage Determination (LCD): Biomarkers Overview (L35062)
The U.S. Centers for Medicare & Medicaid Services
- Results of the College of American Pathology/American College of Medical Genetics and Genomics external proficiency testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish population.
- Canavan disease
From NCATS Genetic and Rare Diseases Information Center
- Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
Fares Fuad, et al. Prenatal diagnosis 2008 3 (3) 236-41
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public 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.
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 07, 2023
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