Pharmacogenomics: driving personalized medicine
Personalized medicine tailors therapies, disease prevention, and health maintenance to the
individual, with pharmacogenomics serving as a key tool to improve outcomes and prevent …
individual, with pharmacogenomics serving as a key tool to improve outcomes and prevent …
[HTML][HTML] Neurodegeneration cell per cell
S Balusu, R Praschberger, E Lauwers, B De Strooper… - Neuron, 2023 - cell.com
The clinical definition of neurodegenerative diseases is based on symptoms that reflect
terminal damage of specific brain regions. This is misleading as it tells little about the initial …
terminal damage of specific brain regions. This is misleading as it tells little about the initial …
[HTML][HTML] Single nucleus multiomics identifies ZEB1 and MAFB as candidate regulators of Alzheimer's disease-specific cis-regulatory elements
AG Anderson, BB Rogers, JM Loupe… - Cell Genomics, 2023 - cell.com
Cell type-specific transcriptional differences between brain tissues from donors with
Alzheimer's disease (AD) and unaffected controls have been well documented, but few …
Alzheimer's disease (AD) and unaffected controls have been well documented, but few …
[HTML][HTML] Cross species systems biology discovers glial DDR2, STOM, and KANK2 as therapeutic targets in progressive supranuclear palsy
Progressive supranuclear palsy (PSP) is a neurodegenerative parkinsonian disorder
characterized by cell-type-specific tau lesions in neurons and glia. Prior work uncovered …
characterized by cell-type-specific tau lesions in neurons and glia. Prior work uncovered …
Massively parallel characterization of regulatory elements in the developing human cortex
Nucleotide changes in gene regulatory elements are important determinants of neuronal
development and diseases. Using massively parallel reporter assays in primary human cells …
development and diseases. Using massively parallel reporter assays in primary human cells …
[HTML][HTML] Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes
Progressive supranuclear palsy (PSP), a rare Parkinsonian disorder, is characterized by
problems with movement, balance, and cognition. PSP differs from Alzheimer's disease (AD) …
problems with movement, balance, and cognition. PSP differs from Alzheimer's disease (AD) …
Functional characterization of human genomic variation linked to polygenic diseases
The burden of human disease lies predominantly in polygenic diseases. Since the early
2000s, genome-wide association studies (GWAS) have identified genetic variants and loci …
2000s, genome-wide association studies (GWAS) have identified genetic variants and loci …
[HTML][HTML] Genetic architecture of human brain evolution
T Fair, AA Pollen - Current Opinion in Neurobiology, 2023 - Elsevier
Comparative studies of hominids have long sought to identify mutational events that shaped
the evolution of the human nervous system. However, functional genetic differences are …
the evolution of the human nervous system. However, functional genetic differences are …
[HTML][HTML] Genetic insights into immune mechanisms of Alzheimer's and Parkinson's disease
A Nott, IR Holtman - Frontiers in immunology, 2023 - frontiersin.org
Microglia, the macrophages of the brain, are vital for brain homeostasis and have been
implicated in a broad range of brain disorders. Neuroinflammation has gained traction as a …
implicated in a broad range of brain disorders. Neuroinflammation has gained traction as a …
Neuronal MAPT expression is mediated by long-range interactions with cis-regulatory elements
BB Rogers, AG Anderson, SN Lauzon, MN Davis… - The American Journal of …, 2024 - cell.com
Tauopathies are a group of neurodegenerative diseases defined by abnormal aggregates of
tau, a microtubule-associated protein encoded by MAPT. MAPT expression is near absent in …
tau, a microtubule-associated protein encoded by MAPT. MAPT expression is near absent in …