A5032338284- Neuroscience and Neural Engineering
- Neuroinflammation and Neurodegeneration Mechanisms
- Neural dynamics and brain function
- Inflammation biomarkers and pathways
- RNA Research and Splicing
- Genomics and Chromatin Dynamics
- Genetics and Neurodevelopmental Disorders
- Alzheimer's disease research and treatments
- RNA and protein synthesis mechanisms
- Histone Deacetylase Inhibitors Research
- Single-cell and spatial transcriptomics
- Advances in Oncology and Radiotherapy
- Receptor Mechanisms and Signaling
- Evolution and Genetic Dynamics
- Neurological Disease Mechanisms and Treatments
- Amyotrophic Lateral Sclerosis Research
- Neurological disorders and treatments
- Neurotransmitter Receptor Influence on Behavior
- Economic and Financial Impacts of Cancer
- Genomics and Phylogenetic Studies
- Epigenetics and DNA Methylation
- Transcranial Magnetic Stimulation Studies
- Medicinal Plants and Neuroprotection
- Neuroscience and Neuropharmacology Research
- CRISPR and Genetic Engineering
University of California, Los Angeles
2016-2024
Massachusetts Institute of Technology
2016-2017
McGovern Institute for Brain Research
2016
Predicting the function of noncoding variation is a major challenge in modern genetics. In this study, we used massively parallel reporter assays to screen 5706 variants identified from genome-wide association studies for both Alzheimer's disease (AD) and progressive supranuclear palsy (PSP), identifying 320 functional regulatory (frVars) across 27 loci, including complex 17q21.31 region. We validated multiple risk loci using CRISPR interference or excision, complement 4 (C4A) APOC1 AD...
Understanding how the brain captures transient experience and converts it into long lasting changes in neural circuits requires identification investigation of specific ensembles neurons that are responsible for encoding each experience. We have developed a Robust Activity Marking (RAM) system allows interrogation neurons. The RAM provides unprecedented high sensitivity selectivity through use an optimized synthetic activity-regulated promoter is strongly induced by neuronal activity...
Alzheimer’s disease (AD), the most common form of dementia, is characterized by abnormal accumulation amyloid plaques and hyperphosphorylated tau aggregates, as well microgliosis. Hemizygous missense variants in Triggering Receptor Expressed on Myeloid Cells 2 ( TREM2 ) are associated with elevated risk for developing late-onset AD. These hypothesized to result loss function, mimicking haploinsufficiency. However, consequences haploinsufficiency pathology microglial function remain unknown....
Brain development is highly dynamic and asynchronous, marked by the sequential maturation of functional circuits across brain. The timing mechanisms driving circuit remain elusive due to an inability identify map maturing neuronal populations. Here we create DevATLAS (Developmental Activation Timing-based Longitudinal Acquisition System) overcome this obstacle. We develop whole-brain mapping methods construct first longitudinal, spatiotemporal in early postnatal mouse brains. Moreover,...
Abstract Objective Changes in progranulin ( GRN ) expression have been hypothesized to alter risk for Alzheimer's disease AD ). We investigated the relationship between peripheral blood and clinical diagnosis of mild cognitive impairment MCI Methods Peripheral gene was measured, using microarrays from n = 186), 118), control 204) subjects University California San Francisco Memory Aging Center UCSF ‐ MAC two independent published series (AddNeuroMed ADNI correlated with clinical,...
Linkage disequilibrium and the incomplete regulatory annotation of noncoding genome complicates identification functional genetic variants their causal association with disease. Current computational methods for variant prioritization have limited predictive value, necessitating application highly parallelized experimental assays to efficiently identify variation. Here, we summarize two distinct approaches, massively parallel reporter CRISPR-based pooled screens describe flexible...
Although there are numerous publications regarding the value (and limitations) of MRI in diagnosis a variety breast conditions, access to UK is severely limited.Because prioritisation all cases needing necessary, only those that will lead clear alteration clinical management can be justified.Against this background, current use busy symptomatic and screening practice presented justified.
Abstract Predicting functionality of noncoding variation is one the major challenges in modern genetics. We employed massively parallel reporter assays to screen 5,706 variants from genome-wide association studies for both Alzheimer’s disease (AD) and Progressive Supranuclear Palsy (PSP). identified 320 functional regulatory polymorphisms (SigVars) comprising 27 34 unique tested loci, including multiple independent signals across complex 17q21.31 region. identify novel risk genes PLEKHM1 PSP...