Milan Maçek
A5032308594- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Tracheal and airway disorders
- Genomics and Rare Diseases
- Genetic Associations and Epidemiology
- Prenatal Screening and Diagnostics
- Immunodeficiency and Autoimmune Disorders
- Genomic variations and chromosomal abnormalities
- Cardiomyopathy and Myosin Studies
- Cardiovascular Effects of Exercise
- BRCA gene mutations in cancer
- Congenital Ear and Nasal Anomalies
- Asthma and respiratory diseases
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Pediatric Hepatobiliary Diseases and Treatments
- Infant Nutrition and Health
- Genetic and phenotypic traits in livestock
- Pediatric health and respiratory diseases
- Cardiac electrophysiology and arrhythmias
- Child Nutrition and Feeding Issues
- Health Systems, Economic Evaluations, Quality of Life
- Connective tissue disorders research
- Reproductive Health and Technologies
- Mesenchymal stem cell research
Charles University
2016-2025
University Hospital in Motol
2014-2024
Czech Academy of Sciences, Institute of Animal Physiology and Genetics
2020-2023
Cystic Fibrosis Foundation
2022
Cystic Fibrosis Trust
2021
Polish Mother’s Memorial Hospital Research Institute
2021
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2021
University of Milan
2021
University Children's Hospital Zurich
2021
University of Cologne
2021
Mice deficient in Klotho gene expression exhibit a syndrome resembling premature human aging. To determine whether variation the KLOTHO locus contributes to survival, we applied two newly characterized polymorphic microsatellite markers flanking population-based association study. In cohort chosen for its homogeneity, Bohemian Czechs, demonstrated significant differences selected marker allele frequencies between newborn and elderly individuals ( P < 0.05). These results precipitated...
Using principal component (PC) analysis, we studied the genetic constitution of 3,112 individuals from Europe as portrayed by more than 270,000 single nucleotide polymorphisms (SNPs) genotyped with Illumina Infinium platform. In cohorts where sample size was >100, one hundred randomly chosen samples were used for analysis to minimize effect, resulting in a total 1,564 samples. This revealed that structure European population correlates closely geography. The first two PCs highlight diversity...
Provision of a molecularly confirmed diagnosis in timely manner for children and adults with rare genetic diseases shortens their "diagnostic odyssey," improves disease management, fosters counseling respect to recurrence risks while assuring reproductive choices. In general clinical genetics setting, the current diagnostic rate is approximately 50%, but those who do not receive molecular after initial evaluation, that much lower. Diagnostic success these more challenging affected...
<h3>Context</h3>A subset (≈ 3%-5%) of patients with cystic fibrosis (CF) develops severe liver disease portal hypertension.<h3>Objective</h3>To assess whether any 9 polymorphisms in 5 candidate genes (α<sub>1</sub>-antitrypsin or α<sub>1</sub>-antiprotease [SERPINA1], angiotensin-converting enzyme [ACE], glutathione S-transferase [GSTP1], mannose-binding lectin 2 [MBL2], and transforming growth factor β1 [TGFB1]) are associated CF.<h3>Design, Setting, Participants</h3>Two-stage case-control...
In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGentest in order to assist laboratories the implementation and accreditation of NGS a setting. These mainly focused on Whole Exome (WES) targeted (gene panels) sequencing detecting small germline variants (Single Nucleotide Variants (SNVs) insertions/deletions (indels)). Since then, Genome (WGS) has increasingly introduced diagnosis rare diseases as WGS allows simultaneous detection SNVs,...
Pharmacogenomics aims to correlate inter-individual differences of drug efficacy and/or toxicity with the underlying genetic composition, particularly in genes encoding for protein factors and enzymes involved metabolism transport. In several European populations, countries lower income, information related prevalence pharmacogenomic biomarkers is incomplete or lacking. Here, we have implemented microattribution approach assess allelic spectrum 18 mostly from developing countries, by...
Genetic analysis of BRCA1 by sequencing is often preceded a scanning method like denaturing gradient gel electrophoresis (DGGE), protein truncation test (PTT) or DHPLC. High-resolution melting curve (HRM) promising and economical for high-throughput mutation scanning. The EuroGentest network (www.eurogentest.org) aims to assist with the introduction novel technologies in diagnostic setting. Therefore, we have performed thorough high-standard interlaboratory evaluation validation HRM,...
Objective Alcohol-related pancreatitis is associated with a disproportionately large number of hospitalisations among GI disorders. Despite its clinical importance, genetic susceptibility to alcoholic chronic (CP) poorly characterised. To identify risk genes for CP and evaluate their relevance in non-alcoholic CP, we performed genome-wide association study functional characterisation new locus. Design 1959 European patients population-based controls from the KORA, LIFE INCIPE studies...