Bárbara Kremeyer
A5055092029- Cancer Genomics and Diagnostics
- Genetic Associations and Epidemiology
- Genomic variations and chromosomal abnormalities
- Prostate Cancer Treatment and Research
- Genomics and Phylogenetic Studies
- Genomics and Chromatin Dynamics
- Genomics and Rare Diseases
- Autism Spectrum Disorder Research
- Bioinformatics and Genomic Networks
- Cancer-related molecular mechanisms research
- Evolution and Genetic Dynamics
- Chromosomal and Genetic Variations
- Obsessive-Compulsive Spectrum Disorders
- Prostate Cancer Diagnosis and Treatment
- Genetic factors in colorectal cancer
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- DNA Repair Mechanisms
- Nutrition, Genetics, and Disease
- Yersinia bacterium, plague, ectoparasites research
- Epigenetics and DNA Methylation
- BRCA gene mutations in cancer
- Bipolar Disorder and Treatment
- Gene expression and cancer classification
- Genetics, Bioinformatics, and Biomedical Research
Wellcome Sanger Institute
2014-2023
University of East Anglia
2022
University College London
2006-2020
Heidelberg University
2020
German Cancer Research Center
2020
Deutschen Konsortium für Translationale Krebsforschung
2020
Karolinska Institutet
2005-2017
Brigham and Women's Hospital
2014
Harvard University
2014
Massachusetts General Hospital
2014
Human monogenic pain syndromes have provided important insights into the molecular mechanisms that underlie normal and pathological states.We describe an autosomal-dominant familial episodic syndrome characterized by episodes of debilitating upper body pain, triggered fasting physical stress.Linkage haplotype analysis mapped this phenotype to a 25 cM region on chromosome 8q12-8q13.Candidate gene sequencing identified point mutation (N855S) in S4 transmembrane segment TRPA1, key sensor for...
The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify attributable all interrogated variants. We have quantified variance liability disease explained by SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded point estimate 0.58 (se = 0.09, p 5.64e-12) TS, 0.37...
Abstract Ionizing radiation is a potent carcinogen, inducing cancer through DNA damage. The signatures of mutations arising in human tissues following vivo exposure to ionizing have not been documented. Here, we searched for 12 radiation-associated second malignancies different tumour types. Two somatic mutation characterize irrespective type. Compared with 319 radiation-naive tumours, tumours carry median extra 201 deletions genome-wide, sized 1–100 base pairs often microhomology at the...
Objective: Obsessive-compulsive disorder (OCD) and Tourette's syndrome are highly heritable neurodevelopmental disorders that thought to share genetic risk factors. However, the identification of definitive susceptibility genes for these etiologically complex remains elusive. The authors report a combined genome-wide association study (GWAS) OCD. Method: conducted GWAS in 2,723 cases (1,310 with OCD, 834 syndrome, 579 OCD plus syndrome/chronic tics), 5,667 ancestry-matched controls, 290...
Genetic factors contribute to risk for bipolar disorder (BP), but its pathogenesis remains poorly understood. A focus on measuring multisystem quantitative traits that may be components of BP psychopathology enable genetic dissection this complex disorder, and investigation extended pedigrees from genetically isolated populations facilitate the detection specific variants affect as well component phenotypes.
Significance Characterizing the abnormalities in sleep and activity that are associated with bipolar disorder (BP) identifying their causation key milestones unraveling biological underpinnings of this severe highly prevalent disorder. We have conducted first systematic evaluation phenotypes pedigrees include multiple BP-affected members. By delineating specific measures significantly heritable these families, those whose variation correlated BP status members, by determining chromosomal...
Tourette syndrome (TS) is a neuropsychiatric disorder with strong genetic component. However, the architecture of TS remains uncertain. Copy number variation (CNV) has been shown to contribute make-up several neurodevelopmental conditions, including schizophrenia and autism. Here we describe CNV calls using SNP chip genotype data from an initial sample 210 cases 285 controls ascertained in two Latin American populations. After extensive quality control, found that (N = 179) have significant...
Abstract Current evidence from case/control studies indicates that genetic risk for psychiatric disorders derives primarily numerous common variants, each with a small phenotypic impact. The literature describing apparent segregation of bipolar disorder (BP) in multigenerational pedigrees suggests that, such families, large-effect inherited variants might play greater role. To identify roles rare and on BP, we conducted analyses 26 Colombia Costa Rica ascertained 1 (BP1), the most severe...
A variety of models have been proposed to explain regions recurrent somatic copy number alteration (SCNA) in human cancer. Our study employs Whole Genome DNA Sequence (WGS) data from tumor samples (n = 103) comprehensively assess the role Knudson two hit genetic model SCNA generation prostate 64 loss and gain were detected, which 28 novel, including with more than 15% frequency at Chr4p15.2-p15.1 (15.53%), Chr6q27 (16.50%) Chr18q12.3 (17.48%). Comprehensive mutation screens genes, lincRNA...
We performed a whole genome microsatellite marker scan in six multiplex families with bipolar (BP) mood disorder ascertained Antioquia, historically isolated population from North West Colombia. These were characterized clinically using the approach employed independent ongoing studies of BP closely related Central Valley Costa Rica. The most consistent linkage results parametric and non-parametric analyses Colombian involved markers on 5q31–33, region implicated by previous Because these...
Recent studies have implicated a region on chromosome 1q21-23, including the NOS1AP gene, in susceptibility to schizophrenia. However, replication been inconsistent, fact that could partly relate marked psychopathological heterogeneity of The aim this study is evaluate association polymorphisms gene schizophrenia, patients from South American population isolate, and assess if these variants are associated with specific clinical dimensions disorder.We genotyped 24 densely spaced SNPs...
Gilles de la Tourette Syndrome (GTS) is a chronic neuropsychiatric disorder characterized by motor and vocal tics. Epidemiological evidence supports the importance of genetic factors in disease susceptibility, whereas pharmacological neuroimaging studies have suggested defect dopamine system. The receptor D2 gene (DRD2) has been reported to be associated with GTS related phenotypes. Here, we evaluate association between DRD2 sample from South American population isolate (Antioquia,...
Abstract Recent reports have implicated polymorphisms in the brain derived neurotrophic factor (BDNF) gene region etiology of several psychiatric phenotypes, including bipolar disorder. Significant disease association has been reported for G allele at SNP rs6265, which encodes Valine position 66 BDNF (Val66Met), an apparently functional variant this key BDNF. Here we examined a sample 224 type I patients and available parents (comprising total 212 nuclear families) ascertained South American...
<i>Background/Aims:</i> Bipolar disorder (BP) is a severe psychiatric illness, characterised by alternating episodes of depression and mania, which ranks among the top ten causes morbidity life-long disability world-wide. We have previously performed whole-genome linkage scan on 6 pedigrees segregating BP from well-characterised population isolate Antioquia, Colombia. recently collected genotypes for same set 382 autosomal microsatellite markers in 9 additional Antioquian...
Abstract Background Up to 80% of cases prostate cancer present with multifocal independent tumour lesions leading the concept a field effect in normal predisposing development. In study we applied Whole Genome DNA Sequencing (WGS) group morphologically tissue ( n = 51), including benign prostatic hyperplasia (BPH) and non-BPH samples, from men without cancer. We assess whether observed genetic changes are linked development prostate. Results Single nucleotide variants P 7.0 × 10 –03 ,...
// Xiang Jiao 1 , Christos Aravidis 1,2 Rajeshwari Marikkannu Johanna Rantala Simone Picelli Tatjana Adamovic Tao Liu Paula Maguire Barbara Kremeyer Liping Luo Susanna von Holst Vinaykumar Kontham Jessada Thutkawkorapin Sara Margolin 3 Quan Du Lundin Kyriaki Michailidou 4,5 Manjeet K. Bolla 4 Qin Wang Joe Dennis Michael Lush Christine B. Ambrosone 6 Irene L. Andrulis 7,8 Hoda Anton-Culver 9 Natalia N. Antonenkova 10 Volker Arndt 11 Matthias W. Beckmann 12 Carl Blomqvist 13 William Blot 14,15...