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LATEST ARTICLES

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..

The origin of the words gene, genome and genetics 

Most people have heard the word gene and many people will be familiar with the idea of what a gene* is, but have you ever wondered where the word gene comes from and how it, and several related words..

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..

How COVID-19 breakthrough infection in vaccinated individuals leads to protection against various variants of concern and memory B cell formation

Omicron breakthrough infection in individuals vaccinated with BNT162b2 boosts not only neutralizing activity and BMEM cells against Omicron but broadly expands immunity against various variants ..

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..

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INFOGRAPHICS

ebiom+: Endometrial microbiome analysis

The endometrial microbiome is increasingly recognized as a factor in reproductive health, and imbalances in microbial composition have been linked to unexplained infertility, recurrent implantation f..

Health and well-being

Spinal muscular atrophy explained: Key facts at a glance

Spinal muscular atrophy is a rare genetic condition that weakens muscles by affecting the motor nerve cells in the spinal cord. It is a leading genetic cause of infant death, but advances in research..

Hereditary diseases

Understanding Down Syndrome

Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21. It affects physical growth, facial features, and cognitive development. While each person with Down synd..

All about genetics

ebiom+: Endometrial microbiome analysis

The endometrial microbiome is increasingly recognized as a factor in reproductive health, and imbalances in microbial composition have been linked to unexplained infertility, recurrent implantation f..

Health and well-being

Spinal muscular atrophy explained: Key facts at a glance

Spinal muscular atrophy is a rare genetic condition that weakens muscles by affecting the motor nerve cells in the spinal cord. It is a leading genetic cause of infant death, but advances in research..

Hereditary diseases

Understanding Down Syndrome

Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21. It affects physical growth, facial features, and cognitive development. While each person with Down synd..

All about genetics

EDITORIAL TEAM

Our editors are a diverse group of scientists and physicians specialized in different areas of genetics and genetic testing technologies. Owing to our various backgrounds, our editors represent a broad range of expertise and are responsible for the content shared on our website. Only evidence-based, peer-reviewed, and up-to-date content is shared, and all text is continuously edited to maximize its correctness.

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