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Specific PHGKB|Neurological Disorders PHGKB|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Effective August 1, 2024, this database will be discontinued. All content will remain searchable and be preserved online for historical purposes only until 2029.

Last Posted: Jul 15, 2024
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Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals
(Posted Jul 15, 2024 9AM)

From the abstract: " An early genetic diagnosis can guide the time-sensitive treatment of individuals with genetic epilepsies. However, most genetic diagnoses occur long after disease onset. We aimed to identify early clinical features suggestive of genetic diagnoses in individuals with epilepsy through large-scale analysis of full-text electronic medical records (EMR)... We identified 47,774 age-dependent associations of clinical features with genetic etiologies a median of 3.6 years prior to molecular diagnosis. Across all 710 genetic etiologies identified in our cohort, neurodevelopmental differences between 6-9 months increased the likelihood of a later molecular diagnosis fivefold."

Implications of Provider Specialty, Test Type, and Demographic Factors on Genetic Testing Outcomes for Patients with Autism Spectrum Disorder
(Posted Jun 18, 2024 4PM)

From the abstract: "A minority of patients with autism spectrum disorder (ASD) are offered genetic testing by their providers or referred for genetics evaluation despite published guidelines and consensus statements supporting genetics-informed care for this population. This study aimed to investigate the ordering habits of providers of different specialties and to additionally assess the diagnostic utility of genetic testing by test type, patient sex, and race and ethnicity. "

APOE4 homozygozity represents a distinct genetic form of Alzheimer’s disease
(Posted May 07, 2024 10AM)

From the abstract: "This study aimed to evaluate the impact of APOE4 homozygosity on Alzheimer’s disease (AD) by examining its clinical, pathological and biomarker changes to see whether APOE4 homozygotes constitute a distinct, genetically determined form of AD. Data from the National Alzheimer’s Coordinating Center and five large cohorts with AD biomarkers were analyzed. The analysis included 3,297 individuals for the pathological study and 10,039 for the clinical study. Findings revealed that almost all APOE4 homozygotes exhibited AD pathology and had significantly higher levels of AD biomarkers from age 55 compared to APOE3 homozygotes. By age 65, nearly all had abnormal amyloid levels in cerebrospinal fluid, and 75% had positive amyloid scans. "

The FDA and Gene Therapy for Duchenne Muscular Dystrophy
(Posted May 01, 2024 5PM)

From the article: " DMD is the largest human gene and has 79 exons. This large size creates issues for gene therapies, but also opportunities, because shortened forms of dystrophin can have some ability to preserve muscle function, although less than the full-length dystrophin protein. A less severe and clinically variable form of muscular dystrophy, Becker muscular dystrophy, is due to alterations in DMD that result in variable levels of expression (5%-50% of normal) of a shortened form of dystrophin."

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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.