Autism spectrum disorders

Evolved, mutated gene module linked to Joubert syndrome

A team led by researchers at the University of California, San Diego School of Medicine reports that newly discovered mutations in an evolved assembly of genes cause Joubert syndrome, a form of syndromic autism.

Medical research

International study uncovers mechanism behind Joubert syndrome

The results of an international study published in Nature Cell Biology have identified a gene (TMEM107) associated with Joubert syndrome, and crucially uncovered the mechanism by which it functions in cells, leading to a ...

Genetics

Gene editing possible for kidney disease

For the first time scientists have identified how to halt kidney disease in a life-limiting genetic condition, which may pave the way for personalised treatment in the future.

Neuroscience

How an unlikely cellular 'antenna' can impair brain development

An antenna-like structure on cells, once considered a useless vestige, appears to be important for proper brain development in mammals and when impaired can cause defects in the brain's wiring similar to what's seen in autism, ...

Genetics

Discovery of a gene that causes Joubert Syndrome

C5ORF42 was identified as the gene that causes Joubert Syndrome in a number of families in the Lower St. Lawrence region of Quebec where the causal gene had remained unknown since the initial description of the syndrome in ...

Joubert syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.

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