Last Posted: Sep 28, 2021
- What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions
FK Boardman et al, EJHG, September 27, 2021
- Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Brunelli Marcela Junqueira et al. The Cochrane database of systematic reviews 2021 9CD009806
- Challenging the dogma of the healthy heterozygote: Implications for newborn screening policies and practices.
Farrell Philip M et al. Molecular genetics and metabolism 2021
- Ethical dilemma: ELX/TEZ/IVA or Lung Transplantation in Cystic Fibrosis and End Stage Lung Disease?
Breuer Oded et al. Chest 2021
- Improving outcomes for Colorado's IRT-IRT-DNA cystic fibrosis newborn screening algorithm by implementing floating cutoffs.
Martiniano Stacey L et al. Molecular genetics and metabolism 2021
- Pregnancy in cystic fibrosis: Review of the literature and expert recommendations.
Jain Raksha et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2021
- Cascade health service use in family members following genetic testing in children: a scoping literature review.
Cernat Alexandra et al. European journal of human genetics : EJHG 2021
- Rituximab for eradicating inhibitors in people with acquired haemophilia A.
Remmington Tracey et al. The Cochrane database of systematic reviews 2021 8CD011907
- Health Equity and Genetic Disorders
CDC, August 2021
- Two Years of Newborn Screening for Cystic Fibrosis in North Macedonia: First Experience.
Fustik S et al. Balkan journal of medical genetics : BJMG 2021 24(1) 41-46
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
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- State Public Health Genomics Programs (24)
- Reviews/Commentaries (241)
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- Ethical/Legal and Social Issues (ELSI) (14)
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.