Medicover Genetics posters at ESHG 2022
Medicover Genetics attended the 55th edition of the largest genetics conference in Europe, European Human Genetics Conference, held in Vienna, from 11 to 14 June 2022. The main goal of the confe..
Hereditary diseases
LATEST ARTICLES
Ehlers-Danlos syndrome (EDS): types, symptoms, causes and genetics
Ehlers-Danlos syndrome (EDS) is not one syndrome but a group of clinically and genetically heterogeneous connective tissue disorders. There are currently 13 EDS subtypes that vary in worldwide preval..
Role of genetics in reproductive health
Infertility is a major public health issue with approximately 1 in 6 people worldwide suffering from infertility during their reproductive lifespans [1]. It is defined as the failure to achieve ..
Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters
A recent article published by our colleagues in Thieme Neuropediatrics reports that large panels have a significantly higher diagnostic yield in pediatric patients with epilepsy forms without encepha..
What are neurodegenerative diseases?
Neurodegenerative diseases represent a group of disorders characterized by the progressive structural and functional degeneration of the central and peripheral nervous systems. They affect millions o..
It Is Not Carved in Stone – The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies
A recent article published by our colleagues in the Journal of Cardiovascular Development and Disease reports that in patients with childhood-onset cardiomyopathies, nearly 30% of reported genetic va..
What is Global Developmental Delay? The role of genetics in global developmental delay and intellectual disability
Global developmental delay and intellectual disability (GDD/ID) affect up to 3% of children <5 years old and is defined as a delay in ≥2 developmental domains, including gross and fine motor, sp..
Is Cancer Hereditary?
Yes, up to 10% of most cancers are hereditary. They are caused by genetic changes which can remain asymptomatic until the cancer develops and becomes malign..
Genetic Testing of Arrhythmias
The main hereditary cardiac arrhythmias are Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), long QT syndrome (LQTS) and short QT syndrome (SQTS). They share seve..
Genetics of Arrhythmias
An arrhythmia (also spelled arrythmia) is defined as an irregular heartbeat resulting from a problem with the rate or rhythm of the heartbeat. During an arrhythmia, the heart can beat too fast (a con..
