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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 ..

Genetic disorders: monogenic, polygenic and chromosomal disorders

Genetic disorders are diseases caused by changes to an individual’s DNA sequence. Our DNA sequence provides the instructions for making the proteins essential to the human body and a change can mea..

Modern humans generate more brain neurons than Neanderthals due to a single amino acid change in the protein TKTL1

A single amino acid change in the transketolase-like 1 (TKTL1) protein may have given modern humans an advantage over more ancient contemporaries like Neanderthals by enabling increased neuron produc..

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..

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 ..

Genetics of blood type: inheritance and compatibility

About 118.54 million blood donations are collected worldwide [1, WHO]. Knowing your blood type is important for medical reasons, e.g. if you require a blood transfusion or if you want to donate blood..

Genetics can influence the time that ADHD is first diagnosed and its persistence into adulthood

Attention-deficit hyperactivity disorder (ADHD) is primarily a neurodevelopmental disorder affecting children. However, about two-thirds of those affected will continue to have the condition into adu..

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INFOGRAPHICS

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

10 facts about DNA

Every year on April 25th, DNA Day celebrates the discovery of DNA’s double helix and the advances we’ve made in understanding genetics. DNA, or deoxyribonucleic acid, is the genetic bluep..

All about genetics

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

10 facts about DNA

Every year on April 25th, DNA Day celebrates the discovery of DNA’s double helix and the advances we’ve made in understanding genetics. DNA, or deoxyribonucleic acid, is the genetic bluep..

All about genetics

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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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