Jumping genes can cause rare developmental disorders in children

The largest study of its kind into childhood developmental disorders has discovered that jumping genes cause genetic changes in some patients with undiagnosed neurodevelopmental diseases. The research enabled genetic diagnoses for three children with previously undiagnosed rare developmental diseases, enrolled in the Deciphering Developmental Disorders project. Reported in Nature Communications, these diagnoses will help the families access support and understand the disease risks for any future children.

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'Sticky' gene may help Valium calm nerves

For years, scientists thought that these powerful sedatives, which are used to treat anxiety, muscle spasms, and sleeping disorders, worked alone to calm nerves. Now, researchers show that this view of the drugs and the neural circuits they affect may have to change. In a study of mice, scientists discovered that both may need the assistance of a 'sticky' gene, named after a mythological figure, called Shisa7.

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Serum neurofilament is a discriminative biomarker between frontotemporal dementia and psychiatric disorders

Early symptoms of frontotemporal dementia are often confused with symptoms occurring in psychiatric disorders. Researchers show that serum neurofilament levels can be used as a diagnostic tool to differentiate between these conditions.

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Social determinant screening useful for families with pediatric sickle cell disease

Individuals with sickle cell disease (SCD) face the burdens of chronic illness and often racial disparities, both of which may increase vulnerability to adverse social determinants of health (SDoH). For children with SCD, living in poverty is associated with lower quality of life, higher healthcare utilization and higher complication rates.

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First cell map of developing human liver reveals how blood and immune system develops

In a world first, scientists have created the human developmental liver cell atlas that provides crucial insights into how the blood and immune systems develop in the fetus. It maps changes in the cellular landscape of the developing liver between the first and second trimesters of pregnancy, including how stem cells from the liver seed other tissues to support the high demand for oxygen needed for growth.

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