The children were born in Turkey with a smaller-than-normal head size, cataracts, severe developmental delay, intellectual disability and epilepsy.
An international research team has discovered a new genetic syndrome caused by mutation of a single gene and named it CATIFA, an acronym for its core symptoms.
In a series of studies that volleyed between large databases and research in zebrafish, Vanderbilt investigators have discovered a link between vascular biology and eye disease.
Vanderbilt investigators demonstrate that a certain eye lens protein is evolutionarily conserved between zebrafish and rat, suggesting that zebrafish can be used as a model system to understand eye lens disorders such as cataracts.
A zebrafish model of a rare genetic disease has revealed an unexpected regulatory pathway for cholesterol absorption and processing.
A metabolic enzyme plays a crucial role in vascular development and may be a good target for cancer therapies.