Yale study finds new genes linked to congenital hydrocephalus



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A recent Yale study has identified new genes associated with congenital hydrocephalus, a neurological disease.

The paper, which was published on Oct. 19, is based on the exome sequencing —  the sequencing of the protein-coding regions of genes in a genome — of 381 patients with congenital hydrocephalus, or CH. In the past, CH has been considered a disorder of cerebrospinal fluid, or CSF, management, rather than a genetic disorder of neurodevelopment. The mainstay of treatment is invasive neurosurgery to drain the fluid. The study, however, found that many patients with CH have a genetic disease, rather than simply a CSF handling problem.

“Hydrocephalus is traditionally seen as a disorder of cerebrospinal fluid,” said Adam Kundishora, one of the study’s authors and a neurological-surgery resident at Yale. “Fundamentally, it’s thought of as a plumbing disorder. However, the genes that we identified were not genes that dealt with the production or movement of CSF.”

According to Kundishora, the genes that were identified determine the fate of neural progenitor cells, which are responsible for the structure and development of the brain itself.

As of right now, he said, all of the patients who present with CH are thought to have a problem with CSF and are treated as such. However, the study found that this may not always be the case and that the condition is sometimes a disorder of early anatomical brain development.

According to Weilai Dong, one of the study’s authors and a doctoral student in genetics, the researchers …