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Rare Disease PHGKB

Specific PHGKB|Rare Diseases PHGKB|Public Health Genomics and Precision Health Knowledge Base (PHGKB)

Last Posted: Apr 20, 2024
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Impact of Race, Socioeconomic Status, and Geography on Healthcare Outcomes for Children With Sickle Cell Disease in the United States: A Scoping Review
(Posted Apr 19, 2024 10AM)

From the abstract: "A large proportion of patients with sickle cell disease (SCD) identify as Black or African American (AA). Social bias and stigma in healthcare outcomes for children with SCD are impossible to explore without considering the impact of racial/cultural identity, socioeconomic status (SES), and geography. It is important to understand the current influences of social movements, expanded health insurance coverage, and telehealth on these variables when considering healthcare outcomes for patients with SCD. "

Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations
(Posted Apr 18, 2024 8AM)

From the abstract: "Next-generation sequencing has revolutionized the speed of rare disease (RD) diagnoses. While clinical exome and genome sequencing represent an effective tool for many RD diagnoses, there is room to further improve the diagnostic odyssey of many RD patients. One recognizable intervention lies in increasing equitable access to genomic testing. Rural communities represent a significant portion of underserved and underrepresented individuals facing additional barriers to diagnosis and treatment."

Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy
O Battacharria et al, IJNS, April 15, 2024 (Posted Apr 15, 2024 2PM)

From the abstract: " Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder diagnosed in childhood. Limited newborn screening in the US often delays diagnosis. With multiple FDA-approved therapies, early diagnosis is crucial for timely treatment but may entail other benefits and harms. Using a community-based survey, we explored how parents of siblings with DMD perceived early diagnosis of one child due to a prior child’s diagnosis. We assessed parents’ viewpoints across domains including diagnostic journey, treatment initiatives, service access, preparedness, parenting, emotional impact, and caregiving experience."

Lethal phenotypes in Mendelian disorder
P Cacheiro et al, GIM, April 15, 2024 (Posted Apr 15, 2024 2PM)

From the abstract: "We queried Online Mendelian Inheritance in Man for terms related to lethality and classified all Mendelian genes according to the earliest age of death recorded for the associated disorders, from prenatal death to no reports of premature death. We characterised the genes across these lethality categories, examined the evidence on viability from mouse models and explored how this information could be used for novel gene discovery. "


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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

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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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.

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