Karl Heilbron
A5061729724- Parkinson's Disease Mechanisms and Treatments
- Genetic Associations and Epidemiology
- Neurological diseases and metabolism
- Lysosomal Storage Disorders Research
- Bioinformatics and Genomic Networks
- Genomic variations and chromosomal abnormalities
- RNA regulation and disease
- Genomics and Rare Diseases
- Genetic Mapping and Diversity in Plants and Animals
- Autism Spectrum Disorder Research
- Evolution and Genetic Dynamics
- Genetics and Neurodevelopmental Disorders
- Biochemical Analysis and Sensing Techniques
- Sleep and related disorders
- Music and Audio Processing
- Genetic and phenotypic traits in livestock
- Circadian rhythm and melatonin
- Neurological disorders and treatments
- CRISPR and Genetic Engineering
- Cognitive Abilities and Testing
- Neuroscience and Music Perception
- Antibiotic Resistance in Bacteria
- Nonmelanoma Skin Cancer Studies
- Genomics and Chromatin Dynamics
- Cholesterol and Lipid Metabolism
Broad Institute
2023-2025
Charité - Universitätsmedizin Berlin
2023-2025
Bayer (Germany)
2025
23andMe (United States)
2018-2024
Humboldt-Universität zu Berlin
2024
Freie Universität Berlin
2024
Karolinska Institutet
2024
Korea National Institute of Health
2024
Hudson Institute
2024
John Wiley & Sons (United States)
2024
Abstract Daytime napping is a common, heritable behavior, but its genetic basis and causal relationship with cardiometabolic health remain unclear. Here, we perform genome-wide association study of self-reported daytime in the UK Biobank ( n = 452,633) identify 123 loci which 61 replicate 23andMe research cohort 541,333). Findings include missense variants established drug targets for sleep disorders HCRTR1 , HCRTR2 ), genes roles arousal TRPC6 PNOC suggesting an obesity-hypersomnolence...
Abstract Estimates from Mendelian randomization studies of unrelated individuals can be biased due to uncontrolled confounding familial effects. Here we describe methods for within-family analyses and use simulation show that family-based reduce such biases. We illustrate empirically how effects affect estimates using data 61,008 siblings the Nord-Trøndelag Health Study UK Biobank replicated our findings 222,368 23andMe. Both within family reproduced established lower BMI reducing risk...
Abstract Background Increasing evidence supports an extensive and complex genetic contribution to PD. Previous genome‐wide association studies (GWAS) have shed light on the basis of risk for this disease. However, determinants PD age at onset are largely unknown. Objectives To identify onset. Methods Using data 28,568 cases, we performed a study based Results We estimated that heritability attributed common variation was ∼0.11, lower than overall (∼0.27), likely, in part, because subjective...
Parkinson's disease is a genetically complex disorder. Multiple genes have been shown to contribute the risk of disease, and currently 90 independent variants identified by genome-wide association studies. Thus far, number (including SNCA, LRRK2, GBA) contain variability across spectrum frequency effect, from rare, highly penetrant common alleles with small effect sizes. Variants in GBA, encoding enzyme glucocerebrosidase, are associated Lewy body diseases such as dementia. These variants,...
Abstract Irritable bowel syndrome (IBS) results from disordered brain–gut interactions. Identifying susceptibility genes could highlight the underlying pathophysiological mechanisms. We designed a digestive health questionnaire for UK Biobank and combined identified cases with IBS independent cohorts. conducted genome-wide association study 53,400 433,201 controls replicated significant associations in 23andMe panel (205,252 1,384,055 controls). Our confirmed six genetic loci IBS. Implicated...
Abstract Reading and writing are crucial life skills but roughly one in ten children affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been found. Here we performed a genome-wide association study 51,800 adults self-reporting diagnosis 1,087,070 controls identified 42 independent significant loci: 15 genes linked cognitive ability/educational attainment, 27 new potentially more specific...
Although over 90 independent risk variants have been identified for Parkinson's disease using genome-wide association studies, most studies performed in just one population at a time. Here we large-scale multi-ancestry meta-analysis of with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals European, East Asian, Latin American African ancestry. In meta-analysis, 78 significant loci, 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2,...
Moving in synchrony to the beat is a fundamental component of musicality. Here we conducted genome-wide association study identify common genetic variants associated with synchronization 606,825 individuals. Beat exhibited highly polygenic architecture, 69 loci reaching significance (P < 5 × 10
Abstract Impulsivity is a multidimensional heritable phenotype that broadly refers to the tendency act prematurely and associated with multiple forms of psychopathology, including substance use disorders. We performed genome-wide association studies (GWAS) eight impulsive personality traits from Barratt Impulsiveness Scale short UPPS-P Impulsive Personality ( N = 123,509–133,517 23andMe research participants European ancestry), measure Drug Experimentation 130,684). Because these GWAS...
Abstract Plasmids have a key role in the horizontal transfer of genes among bacteria. Although plasmids are catalysts for bacterial evolution, it is challenging to understand how they can persist populations over long term because burden impose on their hosts (the ‘plasmid paradox’). This paradox especially perplexing case ‘small’ plasmids, which unable self-transfer by conjugation. Here, first time, we investigate interactions between co-infecting influence plasmid persistence. Using an...
According to historical records of transatlantic slavery, traders forcibly deported an estimated 12.5 million people from ports along the Atlantic coastline Africa between 16th and 19th centuries, with global impacts reaching present day, more than a century half after slavery's abolition. Such have fueled broad understanding forced migration Americas yet remain underexplored in concert genetic data. Here, we analyzed genotype array data 50,281 research participants, which—combined shipping...
Abstract We performed the largest genome-wide association study of PD to date, involving analysis 7.8M SNPs in 37.7K cases, 18.6K UK Biobank proxy-cases, and 1.4M controls. identified 90 independent significant signals across 78 loci, including 38 risk 37 novel loci. These variants explained 26-36% heritable PD. Tests causality within a Mendelian randomization framework putatively causal genes for 70 signals. Tissue expression enrichment suggested that signatures loci were heavily...
Fox Insight is an online, longitudinal health study of people with and without Parkinson's disease targeted enrollment set to at least 125,000 individuals. data a rich facilitating discovery, validation, reproducibility in research. The dataset generated through routine assessments (health medical questionnaires evaluated regular cycles), one-time about environmental exposure healthcare preferences, genetic collection. Qualified Researchers can explore, analyze, download patient-reported...
Objective To systematically investigate the association of environmental risk factors and prodromal features with incident Parkinson’s disease (PD) diagnosis interaction genetic these factors. evaluate whether existing prediction algorithms are improved by inclusion scores. Methods We identified individuals an PD (n=1276) controls (n=500 406) in UK Biobank. determined using adjusted logistic regression models. constructed polygenic scores (PRSs) external weights selected best PRS from a...
This work was undertaken in order to identify Parkinson's disease (PD) risk variants a Latino cohort, describe the overlap genetic architecture of PD Latinos compared European-ancestry subjects, and increase diversity genome-wide association (GWAS) data.We genotyped imputed 1,497 cases controls recruited from nine clinical sites across South America. We performed GWAS using logistic mixed models; with p-value <1 × 10-5 were tested replication cohort 1,234 self-reported 439,522 23andMe, Inc....
Abstract Heart failure is a major public health problem affecting over 23 million people worldwide. In this study, we present the results of large scale meta-analysis heart GWAS and replication in comparable sized cohort to identify one known two novel loci associated with failure. sub-phenotyping shows that new locus chromosome 1 left ventricular adverse remodeling clinical failure, response different initial cardiac muscle insults. Functional characterization fine-mapping reveal putative...
Rapid-eye movement (REM) sleep behavior disorder (RBD), enactment of dreams during REM sleep, is an early clinical symptom alpha-synucleinopathies and defines a more severe subtype. The genetic background RBD its underlying mechanisms are not well understood. Here, we perform genome-wide association study RBD, identifying five risk loci near SNCA, GBA, TMEM175, INPP5F, SCARB2. Expression analyses highlight SNCA-AS1 potentially SCARB2 differential expression in different brain regions with...