Helene Alavere
A5080099477- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Genomic variations and chromosomal abnormalities
- SARS-CoV-2 and COVID-19 Research
- Nutrition, Genetics, and Disease
- Genetic and phenotypic traits in livestock
- Genetic Mapping and Diversity in Plants and Animals
- Ethics in Clinical Research
- Regulation of Appetite and Obesity
- RNA modifications and cancer
- interferon and immune responses
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Cancer-related molecular mechanisms research
- Eating Disorders and Behaviors
- Innovation Policy and R&D
- PARP inhibition in cancer therapy
- Cancer Genomics and Diagnostics
- Chronic Disease Management Strategies
- Receptor Mechanisms and Signaling
- Birth, Development, and Health
- Genetics and Neurodevelopmental Disorders
- COVID-19 Clinical Research Studies
- Diet, Metabolism, and Disease
- Biomedical Ethics and Regulation
University of Tartu
2010-2025
Estonian Biocentre
2025
University Hospital Carl Gustav Carus
2016
Technische Universität Dresden
2016
Tartu University Hospital
2016
The Estonian Biobank cohort is a volunteer-based sample of the resident adult population (aged ≥18 years). current number participants—close to 52000-—represents large proportion, 5%, population, making it ideally suited population-based studies. General practitioners (GPs) and medical personnel in special recruitment offices have recruited participants throughout country. At baseline, GPs performed standardized health examination participants, who also donated blood samples for DNA, white...
<h3>Importance</h3> The association of copy number variations (CNVs), differing numbers copies genetic sequence at locations in the genome, with phenotypes such as intellectual disability has been almost exclusively evaluated using clinically ascertained cohorts. contribution these variants to cognitive general population remains unclear. <h3>Objective</h3> To investigate clinical features conferred by CNVs associated known syndromes adult carriers without preselection and assess genome-wide...
Mental health problems, such as depression, anxiety, substance abuse and stress-related are common in populations worldwide.It has been estimated that $30% of people affected by a mental disorder during their lifetime. 2These disorders associated with notable societal burden, including reduced quality life, increased healthcare costs loss productivity. 3However, psychiatric characterized significant clinical heterogeneity frequently exhibit considerable overlap symptoms comorbidities across...
Due to the heterogeneity of existing European sources observational healthcare data, data source-tailored choices are needed execute multi-data source, multi-national epidemiological studies. This makes transparent documentation paramount. In this proof-of-concept study, a novel standard derivation procedure was tested in set heterogeneous sources. Identification subjects with type 2 diabetes (T2DM) test case. We included three primary care (PCDs), record linkage administrative and/or...
Abstract Large biobanks have set a new standard for research and innovation in human genomics implementation of personalised medicine. The Estonian Biobank was founded quarter century ago, its biological specimens, clinical, health, omics, lifestyle data been included over 800 publications to date. What makes the biobank unique internationally is translational focus, with active efforts conduct clinical studies based on genetic findings, explore effects return results participants. In this...
The aim of this study was to evaluate the effect intervention by proactively sharing a patient's high polygenic risk score (PRS) for coronary artery disease (CAD). Outcomes included: (i) reduction in cardiovascular (CVD) factors over 12 months; (ii) difference purchased prescriptions lipid-lowering and anti-hypertensive drugs between group control subjects; (iii) opinion participating physicians subjects on PRS usefulness.This randomized controlled trial conducted among middle-aged with top...
Procedural guidelines for disclosure of incidental genomic information are lacking.We introduce a method and evaluated the impact returning results to population biobank participants with 16p11.2 copy number variants, which commonly associated neurodevelopmental disorders BMI imbalance. Of 7877 participants, 11 carriers were detected. Eight informed their carrier status surveyed 11-17 months later.All demonstrated preference disclosure. Although two experienced worry, all five survey...
In the human genome, genetic sequences that differ in numbers of copies, or so-called copy number variations (CNVs), can be associated with intellectual disability and developmental delay. Large, recurrent CNVs are particularly these complex disorders. Previous studies effects large have generally pediatric subjects clinical disordered, there more limited data on population frequency asymptomatic adults. This study looks at adult carriers aims to assess consequences rare CNVs. The utilized...
Annely Allik Erialastes ringkondades kaib rahvusvaheliselt aktiivne arutelu selle ule, kas, kuidas ja millist informatsiooni peaks biopank doonoritele nende geeniandmete kohta andma. Eesti inimgeeniuuringute seaduse (IgUS) kohaselt on geenidoonoritel oigus isiklikult tutvuda tema geenivaramus hoitavate andmetega (1). biopangaga sarnaselt ka Jaapani liitunud isikutel teada, mill iseid andmeid teadusuuringute tulemusena biopanga andmebaasi laekunud (2). Enamikul biopankadel pole kull selliseid...
Tartu Ulikooli Eesti geenivaramu (TU EGV) on teadus- ja arendusasutus, mille eesmark edendada inimgeeniuuringute arengut, koguda teavet rahvastiku tervise parilikkuse kohta, rakendada geeniuuringute tulemused rahva parandamiseks ning puhenduda arendustegevusele peamiselt genoomika alal koos selle rakendustega arstiteaduses teistes sellele lahedastes valdkondades. TU EGV loonud rahvastikupohise biopanga, mis sisaldab 31.12.2011. a seisuga 51 534 eestimaalase isiku- terviseandmeid...