Diseases, Conditions, Syndromes

New mitochondrial disease identified in identical twins

In a set of identical twins, investigators led by researchers at Massachusetts General Hospital (MGH) and Children's Hospital Philadelphia (CHOP) have identified a mitochondrial disease not previously reported.

Genetics

Study links genes with function across the human brain

Many psychiatric disorders have genetic causes, but the exact mechanism of how genes influence higher brain function remains a mystery. A new study provides a map linking the genetic signature of functions across the human ...

Genetics

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 from the Wellcome Sanger ...

Genetics

Knockout mice are guide to new genes for eye and skin disorders

Albinism is the best-known of a group of rare genetic disorders that can affect both eyes and skin. Some genes have been identified that are linked to these conditions, but many remain mysterious. Now a team led by UC Davis ...

Genetics

A new framework to study congenital heart defects

Each year, 9 months of dreams and anticipation shared by millions of parents-to-be turn to despair and fright when learning their child is born with a birth defect; an often-devastating event affecting one out of 20 children ...

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