82 results match your criteria: "Clinical Institute of Genomic Medicine[Affiliation]"
How to design a national genomic project-a systematic review of active projects.
Hum Genomics
March 2021
Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Slajmerjeva 4, Ljubljana, Slovenia.
Article Synopsis
- Many countries are studying the human genome to improve medical tests and treatments, which could lead to better health care for everyone.
- There are 41 different national projects focusing on understanding normal and abnormal genes, with a goal to create personalized medicine that fits each person's needs.
- A lot of these projects share data with researchers and have different funding sources, showing a wide range of approaches and plans for the future of health care.
Genetic analysis of 39 erythrocytosis and hereditary hemochromatosis-associated genes in the Slovenian family with idiopathic erythrocytosis.
J Clin Lab Anal
April 2021
Medical Centre for Molecular Biology, Faculty of Medicine, Institute of Biochemistry and Molecular Genetics, University of Ljubljana, Ljubljana, Slovenia.
Article Synopsis
- - The study investigates erythrocytosis, a condition characterized by high levels of red blood cells, hemoglobin, or hematocrit, focusing on a family with unknown causes and exploring 39 genes to find potential mutations that could indicate the disease's genetic basis.
- - Molecular-genetic analysis was conducted on two affected family members and one healthy relative using targeted next-generation sequencing (NGS) to analyze variants in 24 erythrocytosis-related genes and 15 hereditary hemochromatosis-associated genes.
- - Out of 12 identified genetic variants, two were classified as potentially disease-driving; these were not found in a healthy relative, suggesting their potential role in the erythrocytosis observed in the family,
Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel Variant p.Glu580Lys.
Int J Mol Sci
January 2021
Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic variant p.Asp214Asn. Here we report clinical and histopathological features of gelsolin amyloidosis associated with a novel variant p.
View Article and Find Full Text PDFImproving diagnostics of rare genetic diseases with NGS approaches.
J Community Genet
April 2021
Clinical Institute of Genomic Medicine, University medical Centre Ljubljana, Zaloška cesta 7, Ljubljana, Slovenia.
According to a rough estimate, one in fifteen people worldwide is affected by a rare disease. Rare diseases are therefore common in clinical practice; however, timely diagnosis of rare diseases is still challenging. Introduction of novel methods based on next-generation sequencing (NGS) technology offers a successful diagnosis of genetically heterogeneous disorders, even in case of unclear clinical diagnostic hypothesis.
View Article and Find Full Text PDFThe Role of microRNAs in Heart Failure: A Systematic Review.
Front Cardiovasc Med
October 2020
Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
MicroRNAs are highly investigated for their role in the pathogenesis of cardiovascular diseases. Nevertheless, evidence for clinical implementation is still lacking. In our systematic review, we evaluated the potential of microRNAs as pathophysiological and diagnostic biomarkers of heart failure.
View Article and Find Full Text PDFTelegenetics.
Curr Opin Pediatr
December 2020
Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Purpose Of Review: The aim of the article is to provide an update on recent evidence for utilization and challenges of implementation of telegenetics in the clinical practice.
Recent Findings: Implementation of telegenetics in health systems is still limited, below 10%, somewhat higher for cancer genetic counseling. Nevertheless, telegenetic services have been shown useful in the COVID pandemic.
Clinical Next Generation Sequencing Reveals an Gene as a New Potential Gene Candidate for Microcephaly Associated with Severe Developmental Delay, Intellectual Disability and Growth Retardation.
Balkan J Med Genet
December 2019
Clinical Institute of Genomic Medicine, University Medical Center Ljubljana, Šlajmerjeva 4, 1000 Ljubljana, Slovenia.
Microcephaly is characterized by significant clinical and genetic heterogeneity, therefore reaching the genetic diagnosis remains challenging in this group of disorders. We describe a case of a girl with secondary microcephaly, associated with severe developmental delay, intellectual disability, growth retardation and dysmorphic features. For purposes of clinical genetic diagnostic testing, we performed trio whole exome sequencing in the proband and unaffected parents.
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