Pharmacogenomics: driving personalized medicine

W Sadee, D Wang, K Hartmann, AE Toland - Pharmacological reviews, 2023 - ASPET
Personalized medicine tailors therapies, disease prevention, and health maintenance to the
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 …

[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 …

[HTML][HTML] Cross species systems biology discovers glial DDR2, STOM, and KANK2 as therapeutic targets in progressive supranuclear palsy

Y Min, X Wang, Ö İş, TA Patel, J Gao, JS Reddy… - Nature …, 2023 - nature.com
Progressive supranuclear palsy (PSP) is a neurodegenerative parkinsonian disorder
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

C Deng, S Whalen, M Steyert, R Ziffra, PF Przytycki… - Science, 2024 - science.org
Nucleotide changes in gene regulatory elements are important determinants of neuronal
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

K Farrell, J Humphrey, T Chang, Y Zhao… - Nature …, 2024 - nature.com
Progressive supranuclear palsy (PSP), a rare Parkinsonian disorder, is characterized by
problems with movement, balance, and cognition. PSP differs from Alzheimer's disease (AD) …

Functional characterization of human genomic variation linked to polygenic diseases

T Fabo, P Khavari - Trends in Genetics, 2023 - cell.com
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 …

[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 …

[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 …

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 …