Kristin Levine
A5016889750- Parkinson's Disease Mechanisms and Treatments
- Bioinformatics and Genomic Networks
- Genetic Associations and Epidemiology
- Neurological diseases and metabolism
- Genomics and Rare Diseases
- Gene expression and cancer classification
- Amyotrophic Lateral Sclerosis Research
- Animal Genetics and Reproduction
- Genomic variations and chromosomal abnormalities
- Biomedical Text Mining and Ontologies
- Lysosomal Storage Disorders Research
- Nutrition, Genetics, and Disease
- Computational Drug Discovery Methods
- Nuclear Receptors and Signaling
- Autism Spectrum Disorder Research
- Microbial Metabolic Engineering and Bioproduction
- Neurological disorders and treatments
- Multiple Sclerosis Research Studies
- RNA modifications and cancer
- Machine Learning in Healthcare
- Machine Learning in Bioinformatics
- Inflammasome and immune disorders
- Systemic Lupus Erythematosus Research
- Immune responses and vaccinations
- Metabolism and Genetic Disorders
National Institute of Neurological Disorders and Stroke
2022-2025
National Institute on Aging
2022-2025
National Institutes of Health
2022-2025
Data Tecnica International (United States)
2023-2025
Institute on Aging
2025
Alzheimer's Association
2024-2025
Identification of genetic risk factors for Parkinson disease (PD) has to date been primarily limited the study single nucleotide variants, which only represent a small fraction variation in human genome. Consequently, causal variants most PD are not known. Here we focused on structural (SVs), major source We aimed discover SVs associated with by performing first large-scale characterization PD.
GenoTools, a Python package, streamlines population genetics research by integrating ancestry estimation, quality control (QC), and genome-wide association studies (GWAS) capabilities into efficient pipelines. By tracking samples, variants, quality-specific measures throughout fully customizable pipelines, users can easily manage data for large small studies. GenoTools' "Ancestry" module renders highly accurate predictions, allowing high-quality ancestry-specific studies, enables custom...
Abstract Background Commercial genome‐wide genotyping arrays have historically neglected coverage of genetic variation across populations. Objective We aimed to create a multi‐ancestry array that would include wide range neuro‐specific content facilitate research in neurological disorders multiple ancestral groups, fostering diversity and inclusivity studies. Methods developed the Illumina NeuroBooster Array (NBA), custom high‐throughput cost‐effective platform on backbone 1,914,934 variants...
Abstract GenoTools, a Python package, streamlines population genetics research by integrating ancestry estimation, quality control (QC), and genome-wide association studies (GWAS) capabilities into efficient pipelines. By tracking samples, variants, quality-specific measures throughout fully customizable pipelines, users can easily manage data for large small studies. GenoTools’ “Ancestry” module renders highly accurate predictions, allowing high-quality ancestry-specific studies, enables...
Overlapping symptoms and co-pathologies are common in closely related neurodegenerative diseases (NDDs). Investigating genetic risk variants across these NDDs can give further insight into disease manifestations. In this study we have leveraged genome-wide single nucleotide polymorphisms association summary statistics to cluster patients based on their status identified for five (Alzheimer's disease, Parkinson's amyotrophic lateral sclerosis, Lewy body dementia frontotemporal dementia). The...
The Global Parkinson's Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic clinical data for use in large-scale analyses to dramatically expand our understanding of architecture PD. This report details workflow cohort integration into complex arm GP2, together with outline monogenic hub a companion paper, provides generalizable blueprint establishing large scale collaborative research consortia.
Treatments for neurodegenerative disorders remain rare, but recent FDA approvals, such as lecanemab and aducanumab Alzheimer disease (MIM: 607822), highlight the importance of underlying biological mechanisms in driving discovery creating modifying therapies. The global population is aging, an urgent need therapeutics that stop progression eliminate symptoms. In this study, we create open framework resource evidence-based identification therapeutic targets disease. We use summary-data-based...
Abstract Genome-wide genotyping platforms have the capacity to capture genetic variation across different populations, but there been disparities in representation of population-dependent diversity. The motivation for pursuing this endeavor was create a comprehensive genome-wide array capable encompassing wide range neuro-specific content Global Parkinson’s Genetics Program (GP2) and Center Alzheimer’s Related Dementias (CARD). CARD aims increase diversity studies, using as tool foster...
ABSTRACT BACKGROUND With recent findings connecting Epstein-Barr virus to increased risk of multiple sclerosis and growing concerns regarding the potential neurological impact coronavirus pandemic, we surveyed biobank scale real-world data identify links between viral exposures neurodegenerative disease risks. METHODS To assess diseases due exposures, mined time series from FinnGen as a discovery dataset cross-sectional UK Biobank replication for 73 pairs common outcomes. We investigated...
Understanding the genetic mechanisms underlying diseases in ancestrally diverse populations is a critical step towards realization of global application precision medicine. The African and admixed enable mapping complex traits given their greater levels diversity, extensive population substructure, distinct linkage disequilibrium patterns.Here we perform comprehensive genome-wide assessment Parkinson's disease (PD) 197,918 individuals (1,488 cases; 196,430 controls) ancestry, characterizing...
Abstract Elucidating the genetic contributions to Parkinson’s disease (PD) etiology across diverse ancestries is a critical priority for development of targeted therapies in global context. We conducted largest sequencing characterization potentially disease-causing, protein-altering and splicing mutations 710 cases 11,827 controls from genetically predicted African or admixed ancestries. explored copy number variants (CNVs) runs homozygosity (ROHs) prioritized early onset familial cases....
Abstract Backgrounds Biomedical research requires sophisticated understanding and reasoning across multiple specializations. While large language models (LLMs) show promise in scientific applications, their capability to safely accurately support complex biomedical remains uncertain. Methods We present CARDBiomedBench , a novel question-and-answer benchmark for evaluating LLMs research. For our pilot implementation, we focus on neurodegenerative diseases (NDDs), domain requiring integration...
Abstract LRRK2 -PD represents the most common form of autosomal dominant Parkinson’s disease. We identified p.L1795F variant in three families and six additional unrelated cases using genetic data from over 50,000 individuals. Carriers with available genotyping shared a haplotype. The clinical presentation resembles other forms. Combined published functional evidence showing strongly enhanced kinase activity, we provide that is pathogenic.
Abstract The relationship between sleep disorders and neurodegeneration is complex. Using >1 million electronic health records from Wales, UK, Finland, we mined biobank data to identify relationships neurodegenerative diseases (NDDs). Additionally, investigated how sleep-attributed risk may compensate for lack of NDD genetic risk. We found that were associated with Alzheimer’s disease (AD), amyotrophic lateral sclerosis, dementia, Parkinson’s (PD), vascular dementia in three national...
Treatments for neurodegenerative disorders remain rare, although recent FDA approvals, such as Lecanemab and Aducanumab Alzheimer's Disease, highlight the importance of underlying biological mechanisms in driving discovery creating disease modifying therapies. The global population is aging, an urgent need therapeutics that stop progression eliminate symptoms. In this study, we create open framework resource evidence-based identification therapeutic targets disease. We use Summary-data-based...
Copy Number Variations (CNVs) play pivotal roles in the etiology of complex diseases and are variable across diverse populations. Understanding association between CNVs disease susceptibility is significant importance genetics research often requires analysis large sample sizes. One most cost-effective scalable methods for detecting based on normalized signal intensity values, such as Log R Ratio (LRR) B Allele Frequency (BAF), from Illumina genotyping arrays. In this study, we present...
Parkinson's disease (PD) is a neurodegenerative disorder caused by complex genetic and environmental factors. Genome-edited human pluripotent stem cells (hPSCs) offer the uniique potential to advance our understanding of PD etiology providing disease-relevant cell-types carrying patient mutations along with isogenic control cells. To facilitate this experimental approach, we generated collection 55 cell lines genetically engineered harbor in genes associated monogenic (SNCA A53T, SNCA A30P,...
ABSTRACT Genome-wide association studies (GWAS) of Alzheimer’s disease are predominantly carried out in European ancestry individuals despite the known variation genetic architecture and prevalence across global populations. We leveraged published de novo GWAS from European, East Asian, African American, Caribbean Hispanic populations to perform largest multi-ancestry meta-analysis date. This method allowed us identify two independent novel disease-associated loci on chromosome 3. also...
SUMMARY The relationship between sleep disorders and neurodegeneration is complex multi-faceted. Using over one million electronic health records (EHRs) from Wales, UK, Finland, we mined biobank data to identify the relationships subsequent manifestation of neurodegenerative diseases (NDDs) later in life. We then examined how these disorders’ severity impacts risk. Additionally, investigated attributed risk may compensate for lack genetic factors (i.e. a lower polygenic score) NDD...