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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..

Global developmental delay – Genetics and genetic testing 

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

What is a Rare Disease and What Causes It?

Genetic testing can help improve the lives of people and families living with a rare disease. Each rare disease, alone, may be considered “rare” but given that there are >7,000 rare diseases, take..

All about genetics

Basics of Genetics

Our team enjoyed putting together this infographic to introduce you to the basics of genetics. This is the first infographic of our series that will contain information on complex topics in a simplif..

All about genetics

What is a Rare Disease and What Causes It?

Genetic testing can help improve the lives of people and families living with a rare disease. Each rare disease, alone, may be considered “rare” but given that there are >7,000 rare diseases, take..

All about genetics

Basics of Genetics

Our team enjoyed putting together this infographic to introduce you to the basics of genetics. This is the first infographic of our series that will contain information on complex topics in a simplif..

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.

OUR NETWORK