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ND PHGKB

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

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Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals

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

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

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

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."


news Latest News and Publications
The Human Microglia Atlas (HuMicA) unravels changes in disease-associated microglia subsets across neurodegenerative conditions. External Web Site Icon
Martins-Ferreira Ricardo, et al. Nature communications 2025 0 0. (1) 739
Genetic proxies for clinical traits are associated with increased risk of severe COVID-19. External Web Site Icon
Chaddock N J M, et al. Scientific reports 2025 0 0. (1) 2083
Unveiling autism spectrum disorder in South East Asia through a public health Lens. External Web Site Icon
Kumar Alok, et al. Frontiers in child and adolescent psychiatry 2025 0 0. 1489269
Is there a causal association between temporomandibular disorders and COVID-19 risk? A genetic instrumental variables analysis. External Web Site Icon
Chen Jiayi, et al. Journal of oral & facial pain and headache 2025 0 0. (2) 98-110
Emerging and re-emerging viral infections of the central nervous system in Australasia and beyond. External Web Site Icon
Wong Kum Thong, et al. Pathology 2025 0 0.
Multiple sclerosis twin study reveals distinct genetic, disease-specific, and psychometric impact on coping with critical life events. External Web Site Icon
Engels Daniel, et al. Journal of the neurological sciences 2025 0 0. 123381
Biomarkers. External Web Site Icon
Reas Emilie T, et al. Alzheimer's & dementia : the journal of the Alzheimer's Association 2025 0 0. e091785
Dementia Care Research and Psychosocial Factors. External Web Site Icon
Ang Li Chang, et al. Alzheimer's & dementia : the journal of the Alzheimer's Association 2025 0 0. (Suppl 4) e083965
Developing Topics. External Web Site Icon
Fajar Rifaldy, et al. Alzheimer's & dementia : the journal of the Alzheimer's Association 2025 0 0. e095435
Drug Development. External Web Site Icon
Raman Rema, et al. Alzheimer's & dementia : the journal of the Alzheimer's Association 2025 0 0. (Suppl 6) e093124

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About ND PHGKB

Neurological Disorders (ND) 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 neurological disorders....more

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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.

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