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Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas.
Cell Genom
November 2024
Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD 21201, USA; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA; Program in Health Equity and Population Health, University of Maryland School of Medicine, Baltimore, MD 21201, USA; Program in Personalized Genomic Medicine, University of Maryland School of Medicine, Baltimore, MD 21201, USA. Electronic address:
Article Synopsis
- Latin Americans are often overlooked in genetic studies, which can widen gaps in personalized medicine due to the challenges of accessing genetic data and consent processes.
- The Genetics of Latin American Diversity (GLAD) Project compiles genetic information from over 53,000 individuals across various regions to explore diverse ancestry and gene flow in the Americas.
- GLAD includes a tool called GLAD-match to align external genetic samples with its database while protecting individual privacy, thus supporting more inclusive genomic research and enhancing personalized medicine for Latin Americans.
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Pediatr Neurol
November 2024
Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada; Department of Pediatrics, University of Montreal, Montreal, Québec, Canada. Electronic address:
Article Synopsis
- GTPases from the Rab family play a crucial role in membrane trafficking, and issues with these proteins have been linked to various neurological disorders, particularly involving RAB11A variants causing developmental and epileptic encephalopathy.
- The study examined 16 patients with RAB11A variants, mostly de novo heterozygous missense mutations, finding that these variants are associated with intellectual disability, developmental delays, and a range of other physical and neurological symptoms.
- The research suggests that while epilepsy is less common and less severe in patients with binding site mutations, the RAB11A neurodevelopmental disorder can affect multiple body systems, including gait, muscle tone, brain structure, and even fat distribution.
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Genet Med
November 2024
Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA; Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine at UCLA, Los Angeles, CA. Electronic address:
Purpose: Epigenetic dysregulation has been associated with many inherited disorders. RBBP5 (HGNC:9888) encodes a core member of the protein complex that methylates histone 3 lysine-4 and has not been implicated in human disease.
Methods: We identify 5 unrelated individuals with de novo heterozygous variants in RBBP5.
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Genet Med
September 2024
Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA.
Purpose: The function of FAM177A1 and its relationship to human disease is largely unknown. Recent studies have demonstrated FAM177A1 to be a critical immune-associated gene. One previous case study has linked FAM177A1 to a neurodevelopmental disorder in 4 siblings.
View Article and Find Full Text PDFDevelopment and validation of the Michigan Chronic Disease Simulation Model (MICROSIM).
PLoS One
May 2024
Department of Internal Medicine and Cognitive Health Services Research Program, University of Michigan (U-M), Ann Arbor, MI, United States of America.
Strategies to prevent or delay Alzheimer's disease and related dementias (AD/ADRD) are urgently needed, and blood pressure (BP) management is a promising strategy. Yet the effects of different BP control strategies across the life course on AD/ADRD are unknown. Randomized trials may be infeasible due to prolonged follow-up and large sample sizes.
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