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Hereditary diseases

Hereditary diseases

Porphyria: the facts behind the so-called vampire disease

Vampires have existed in myth and folklore for hundreds of years and have a well‑established place in popular culture. Just look at the Halloween costumes on sale at this time of year and you will ..

LATEST ARTICLES

New genetic etiology in teenage-onset colorectal cancer identified

Colorectal cancer (CRC) in adolescents and young adults (AYA) is rare. Genetic causes include autosomal recessive and dominant monogenic disorders due to pathogenic variants (PVs) in genes involved i..

Hereditary diseases

Two epigenetically distinct types of obesity identified

Scientists have discovered two distinct types of obesity with physiological and molecular differences that may have lifelong implications for health, disease, and drug response. The study, published ..

Hereditary diseases

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

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..

Hereditary diseases

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 ..

Hereditary diseases

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..

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..

Hereditary diseases

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

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