top-banner

Hereditary diseases

Hereditary diseases

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..

LATEST ARTICLES

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..

Hereditary diseases

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..

Hereditary diseases

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..

Hereditary diseases

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..

Hereditary diseases

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..

Hereditary diseases

OUR NETWORK