A5085276790- Acute Myeloid Leukemia Research
- Cancer Genomics and Diagnostics
- Chronic Lymphocytic Leukemia Research
- Lymphoma Diagnosis and Treatment
- Immune Cell Function and Interaction
- Immunodeficiency and Autoimmune Disorders
- Genetic Associations and Epidemiology
- T-cell and B-cell Immunology
- Genomic variations and chromosomal abnormalities
- CAR-T cell therapy research
- RNA modifications and cancer
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Chronic Myeloid Leukemia Treatments
- Molecular Biology Techniques and Applications
- Gut microbiota and health
- Protein Degradation and Inhibitors
- CRISPR and Genetic Engineering
- Salivary Gland Disorders and Functions
- Acute Lymphoblastic Leukemia research
- Genomics and Phylogenetic Studies
- Hematopoietic Stem Cell Transplantation
- Genomics and Rare Diseases
- Prostate Cancer Treatment and Research
- Monoclonal and Polyclonal Antibodies Research
- Mitochondrial Function and Pathology
Institute for Molecular Medicine Finland
2016-2025
University of Helsinki
2016-2025
Finland University
2013-2025
Finnish Institute for Health and Welfare
2006-2021
Helsinki University Hospital
2013-2021
Turku University Hospital
2013-2021
Nationwide Children's Hospital
2019
University of Bergen
2013
Haukeland University Hospital
2013
Tampere University Hospital
2013
T-cell large granular lymphocytic leukemia is a rare lymphoproliferative disorder characterized by the expansion of clonal CD3+CD8+ cytotoxic T lymphocytes (CTLs) and often associated with autoimmune disorders immune-mediated cytopenias.
We present an individualized systems medicine (ISM) approach to optimize cancer drug therapies one patient at a time. ISM is based on (i) molecular profiling and ex vivo sensitivity resistance testing (DSRT) of patients' cells 187 oncology drugs, (ii) clinical implementation predicted be effective, (iii) studying consecutive samples from the treated patients understand basis resistance. Here, application 28 with acute myeloid leukemia (AML) uncovered five major taxonomic drug-response...
The acquired component of complex traits is difficult to dissect in humans. Obesity represents such a trait, which the metabolic and molecular consequences emerge from interactions genes environment. With substantial morbidity associated with obesity, deeper understanding concurrent changes considerable importance. goal this study was investigate important expose obesity-induced biological pathways an identical genetic background.We used special design "clonal controls," rare monozygotic...
Abstract Background Techniques enabling targeted re-sequencing of the protein coding sequences human genome on next generation sequencing instruments are great interest. We conducted a systematic comparison solution-based exome capture kits provided by Agilent and Roche NimbleGen. A control DNA sample was captured with all four methods prepared for Illumina GAII sequencing. Sequence data from additional samples same protocols were also used in comparison. Results developed bioinformatics...
Little is known about the genetic factors that contribute to familial colorectal cancer type X (FCCX), characterized by hereditary nonpolyposis carcinoma with no mismatch repair defects. Genetic linkage analysis, exome sequencing, tumor studies, and functional investigations of 4 generations a FCCX family led identification truncating germline mutation in RPS20, which encodes component (S20) small ribosomal subunit new colon predisposition gene. The was associated defect pre–ribosomal RNA...
Abstract The development of tyrosine kinase inhibitor treatments has made it important to test cancer patients for clinically significant gene mutations that influence the benefit treatment. Targeted next‐generation sequencing (NGS) provides a promising method diagnostic purposes by enabling simultaneous detection multiple in various genes single test. aim our study was screen EGFR , KRAS and BRAF targeted NGS commonly used real‐time polymerase chain reaction (PCR) methods evaluate...
Somatic mutations contribute to tumorigenesis. Although these occur in all proliferating cells, their accumulation under non-malignant conditions, such as autoimmune disorders, has not been investigated. Here, we show that patients with newly diagnosed rheumatoid arthritis have expanded CD8+ T-cell clones; 20% (5/25) of T but CD4+ harbour somatic mutations. In healthy controls (n=20), only one mutation is identified the pool. Mutations exist exclusively effector-memory subset, persist during...
T-cell large granular lymphocytic leukemia and chronic lymphoproliferative disorder of natural killer cells are intriguing entities between benign malignant lymphoproliferation. The molecular pathogenesis has partly been uncovered by the recent discovery somatic activating STAT3 STAT5b mutations. Here we show that 43% (75/174) patients with 18% (7/39) harbor mutations when analyzed quantitative deep amplicon sequencing. Surprisingly, 17% STAT3-mutated carried multiple mutations, which were...
Cancer cells can evade natural killer (NK) cell activity, thereby limiting anti-tumor immunity. To reveal genetic determinants of susceptibility to NK we examined interacting and blood cancer using single-cell genome-scale functional genomics screens. Interaction induced distinct activation type I interferon (IFN) states in both types depending on the lineage molecular phenotype, ranging from more sensitive myeloid less B-lymphoid cancers. CRISPR screens uncovered genes regulating...
Background Cardiovascular disease (CVD) incidence, complications and burden differ markedly between women men. Although there is variation in the distribution of lifestyle factors genders, they do not fully explain differences CVD incidence suggest existence gender-specific genetic risk factors. We aimed to estimate whether profiles coronary heart (CHD), ischemic stroke composite end-point genders. Methodology/Principal Findings studied two Finnish population cohorts, using case-cohort...
mtDNA mutagenesis in somatic stem cells leads to their dysfunction and progeria mouse. The mechanism was proposed involve modification of reactive oxygen species (ROS)/redox signaling. We studied the effect on reprogramming stemness pluripotent (PSCs) show that PSCs select against specific mutations, mimicking germline promoting integrity despite glycolytic metabolism. Furthermore, is associated with an increase mitochondrial H2O2, reduced PSC efficiency, self-renewal. Mitochondria-targeted...
Abstract The evolutionary progression from primary to metastatic prostate cancer is largely uncharted, and the implications for liquid biopsy are unexplored. We infer detailed reconstructions of tumor phylogenies in ten patients with fatal disease, investigate them conjunction histopathology DNA extracted blood cerebrospinal fluid. Substantial evolution occurs within prostate, resulting branching into multiple spatially intermixed lineages. One dominant lineage emerges that initiates drives...
Objective: The human intestinal microbiota likely play an important role in the development of overweight and obesity. However, associations between saliva body mass index (BMI) have been sparsely studied. aim this study was to identify size Finnish children. Methods: 900 children, aged 11-14 years with measured height weight, characterized using 16S rRNA (V3-V4) sequencing. Results: core consisted 14 genera that were present more than 95% profiles gender-specific higher alpha-diversity boys...