A5048783189- Genomics and Rare Diseases
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Corneal surgery and disorders
- Mitochondrial Function and Pathology
- Corneal Surgery and Treatments
- RNA regulation and disease
- DNA Repair Mechanisms
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- Glaucoma and retinal disorders
- RNA and protein synthesis mechanisms
- Hearing, Cochlea, Tinnitus, Genetics
- Retinal Development and Disorders
- Genetic Neurodegenerative Diseases
- Protein Tyrosine Phosphatases
- Cardiomyopathy and Myosin Studies
- Metabolism and Genetic Disorders
- Carcinogens and Genotoxicity Assessment
- Chronic Lymphocytic Leukemia Research
- Renal and related cancers
- Genomics and Chromatin Dynamics
- Cancer Genomics and Diagnostics
- Ubiquitin and proteasome pathways
- Cellular transport and secretion
Medical University of Warsaw
2016-2025
Temple University
2022
Temple College
2022
Comenius University Bratislava
2022
Children's Memorial Health Institute
2020
Poznan University of Medical Sciences
2020
Medical Genetics Center
2019
Institute of Physiology and Pathology of Hearing
2018
Adam Mickiewicz University in Poznań
2013-2017
Polish Academy of Sciences
2005-2015
Whole-exome sequencing (WES) has led to an exponential increase in identification of causative variants mitochondrial disorders (MD). We performed WES 113 MD suspected patients from Polish paediatric reference centre, whom routine testing failed identify a molecular defect. was using TruSeqExome enrichment, followed by variant prioritization, validation Sanger sequencing, and segregation with the disease phenotype family. Likely mutations were identified 67 (59.3 %) patients; these included...
Keratoconus (KTCN) is a noninflammatory thinning and anterior protrusion of the cornea that results in steepening distortion cornea, altered refractive powers, reduced visual acuity. Several loci responsible for familial form KTCN have been mapped, however; no mutations any genes identified these loci. There also evidence VSX1 SOD1 may be involved etiology KTCN. The purpose this study was to verify available data identify new keratoconus susceptibility locus.KTCN without other ocular or...
TTN gene truncating variants are common in dilated cardiomyopathy (DCM), although data on their clinical significance is still limited. We sought to examine the frequency of patients with DCM, including familial DCM (FDCM), and look for genotype-phenotype correlations. Clinical cardiovascular data, family histories blood samples were collected from 72 probands, mean age 34 years, 45.8% FDCM. DNA examined by next generation sequencing (NGS) a focus gene. Truncating mutations followed up...
Genetic disorders are the leading cause of infant morbidity and mortality. Due to large number genetic diseases, molecular phenotype heterogeneity often severe course, these diseases remain undiagnosed. In infants with a suspected acute monogenic disease, rapid whole-exome sequencing (R-WES) can be successfully performed. R-WES (singletons) was performed in 18 unrelated and/or progressing disease suspicion origin hospitalized an Intensive Care Unit (ICU). Blood samples were also collected...
Since the environmental, behavioral, and socioeconomic factors in etiology of keratoconus (KTCN) remain poorly understood, we characterized them as features influencing KTCN phenotype, especially affecting corneal epithelium (CE). In this case-control study, 118 patients 73 controls were clinically examined Questionnaire covering aforementioned aspects was completed then statistically elaborated. Selected KTCN-specific findings correlated with outcomes RNA-seq assessment CE samples. Male...
Thoracic aortic aneurysms and dissections (TAAD) are silent but possibly lethal condition with up to 40 % of cases being hereditary. Genetic background is heterogeneous. Recently next-generation sequencing enabled efficient cost-effective examination gene panels. Aim the study was define diagnostic yield NGS in 51 TAAD patients look for genotype–phenotype correlations within families TAAD. unrelated were examined by either whole exome or TruSight One panel. We analyzed rare variants 10...
Background Ichthyosis and neurological involvement occur in relatively few known Mendelian disorders caused by mutations genes relevant both for epidermis neural function. Objectives To identify the cause of a similar phenotype ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI) dysmorphic features (IKSHD) observed two unrelated paediatric probands without family history disease. Methods Whole exome sequencing was performed patients. The functional effect prioritised variant...
PurposeDetermining the role of DYNC2H1 variants in nonsyndromic inherited retinal disease (IRD).MethodsGenome and exome sequencing were performed for five unrelated cases IRD with no identified variant. In vitro assays developed to validate (fibroblast assay, induced pluripotent stem cell [iPSC] derived organoids, a dynein motility assay).ResultsFour novel (V1, g.103327020_103327021dup; V2, g.103055779A>T; V3, g.103112272C>G; V4, g.103070104A>C) one previously reported variant (V5,...
The ocular microbiome composition has only been partially characterized. Here, we used RNA-sequencing (RNA-Seq) data to assess microbial diversity in human corneal tissue. Additionally, conjunctival swab samples were examined characterize surface microbiota. Short RNA-Seq reads, obtained from a previous transcriptome study of 50 tissues, mapped the reference genome GRCh38 remove sequences origin. unmapped reads then for taxonomic classification by comparing them with known bacterial,...
Cigarette smoke and alcohol can generate reactive oxygen species, which may induce DNA double-strand breaks (DSBs), the most serious lesion. In humans, DSBs are repaired mainly by non-homologous end joining homologous recombination repair (HRR). Several polymorphisms in gene have been extensively studied association with various human cancers. present work we investigated between of two HRR genes, XRCC2 RAD51, tobacco- alcohol-related larynx cancer a Polish population.Two gene, -41657C > T...
In 1999, based on a single family, spondyloepimetaphyseal dysplasia ( SEMD ) with mental retardation MR was described as novel syndrome probably X‐linked recessive inheritance and unknown molecular defect MIM 300232). Our purpose to search for the causative in originally family an independently ascertained second family. All patients had slowly progressive neurodegeneration central peripheral involvement identical skeletal dysplasia. Whole exome sequencing performed two subjects showed...
Abstract Identification of pathogens causing viral encephalitis remains challenging, and in over 50% cases the etiologic factor undetermined. Next-generation sequencing (NGS) based metagenomics has been successfully used to detect novel rare infections, but its value for routine diagnosis unclear. The aim present study was determine sensitivity shotgun metagenomic protocols, which include preamplification, testing it against cerebrospinal fluid (CSF) samples from patients. For HIV HBV...