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Genetic causes of neurodevelopmental disorders: Insights from trio exome sequencing
Neurodevelopmental disorders (NDDs) have diverse genetic origins, making diagnosis challenging. A new study analyzing over 1,100 pediatric patients found that trio-exome sequencing (trio-ES) identifi..
Newly published study demonstrates insights in anti-EGFR re-challenge and the role of liquid biopsy in metastatic colorectal cancer
Colorectal cancer (CRC) remains one of the most prevalent and deadly cancers worldwide, with a significant number of cases presenting at an advanced stage. If not treated early, CRC can metastasize a..
Carrier screening: A comprehensive guide to genetic health and reproductive planning
Carrier screening is a genetic test designed to identify whether an individual carries a gene with changes (mutations) associated with inherited disorders. While carriers typically do not show sympto..
Trisomy awareness month: Understanding trisomy 13
Trisomy 13, also known as Patau syndrome, is a genetic condition in which cells in the body have three copies of chromosome 13 instead of two. The condition arises when errors occur during cell divis..
Mapping human brain development: Insights into neural differentiation and disease risk
The human brain develops through a complex series of events, with genes carefully regulating the formation of neurons and glial cells. A recent study offers a detailed map of this process, tracking h..
The diagnostic odyssey: The search for answers for rare diseases
Rare diseases affect between 300 and 400 million people worldwide – more than cancer and AIDS combined [1, 2], but despite this, many people face a diagnostic odyssey, with an average wait of 4 to ..
Rosalind Franklin: In celebration of International Day of Women & Girls in Science (February 11)
Rosalind Elsie Franklin was a brilliant and meticulous research scientist whose interdisciplinary work made fundamental contributions to various areas of science – the most notable one being to the..
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
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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.
