Last Posted: Oct 23, 2020
- Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide.
Cornel Martina C et al. Journal of community genetics 2020 Oct
- The incidence and carrier frequency of Tay-Sachs disease in the French-Canadian population of Quebec based on retrospective data from 24 years, 1992-2015.
Sillon Guillaume et al. Journal of genetic counseling 2020 Apr
- International perspectives on the implementation of reproductive carrier screening.
Delatycki Martin B et al. Prenatal diagnosis 2019 Nov
- Inborn Errors of Metabolism: From Preconception to Adulthood.
Kruszka Paul et al. American family physician 2019 99(1) 25-32
- Gene-Editing Advance Puts More Gene-Based Cures Within Reach
F Collins, NIH Director Blog, November 5, 2019
- New CRISPR tool has the potential to correct almost all disease-causing DNA glitches, scientists report
S Begley. Stat News, October 21, 2019
- Scientists Create New, More Powerful Technique To Edit Genes
R Stein, NPR, October 21, 2019
- Cancer Patient Says Question Could Save Lives: 'Do You Have Eastern European Jewish Ancestry?'
C Goldberg, WBUR, August 21, 2019
- Concierge DNA Testing: Boston Doctors And Genetic Counselors Consult, But It Will Cost You
C Goldberg, WBUR, August 16, 2019
- From ancestry to health traits ? how do I know if genetic testing may be right for me?
S Rosen, Mayo clinic Individualized Health Blog, July 2019
- Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.
Cecchi Alana C et al. Molecular genetics & genomic medicine 2019 Jul e836
- Prenatal Diagnosis of Tay-Sachs Disease.
Zhang Jinglan et al. Methods in molecular biology (Clifton, N.J.) 2019 1885233-250
- Patients' reactions and follow-up testing decisions related to Tay-Sachs (HEXA) variants of uncertain significance results.
Yip Tiffany et al. Journal of genetic counseling 2019 Mar
- Local Coverage Determination (LCD): Biomarkers Overview (L35062)
The U.S. Centers for Medicare & Medicaid Services
- Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.
Hussein Norita et al. The Cochrane database of systematic reviews 2018 Mar 3CD010849
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 discoveries into improved health outcomes related to rare diseases...more
- NIH Information (2)
- Human Genome Epidemiologic Studies (13)
- GWAS Studies (1)
- Human Genomics Translation/Implementation Studies (5)
- Genomic Tests Evidence Synthesis (3)
- Genomic Tests Guidelines (1)
- State Public Health Genomics Programs (2)
- Reviews/Commentaries (11)
- Tools/Methods (1)
- Ethical/Legal and Social Issues (ELSI) (1)
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.