Discovery brings answers to parents of children with rare neurological genetic mutation

Shortly after Kelly Cervantes’ daughter Adelaide was born, she began having terrible seizures. Doctors could not give her a solution, or even a cause.

“We never had a clear diagnosis for her, which was extremely frustrating and isolating,” she says. “If we had, we could have joined groups or talked to people who shared various symptoms. We also had no idea what her prognosis was, or whether we would be able to have more children.”

Over time, her condition worsened and she sadly passed away five days before her fourth birthday.

“She never really progressed beyond three to six months of physical development, and we don’t know exactly where she was intellectually. She was amazing, but her life was really difficult and very hard,”

Cervantes had enrolled her daughter in a research program for people with undiagnosed illnesses. After her daughter died, she received a call asking if she would like to participate in a study at The Neuro. The results of that study have now been published in the journal Nature Communications.

The scientists analyzed samples from Adeliade and 21 other people with the condition. By growing stem cells in a petri dish using the participants’ genetic code, the scientists discovered that mutations in a gene called DENND5A create a malfunction, and that malfunction prevents brain cells from dividing properly during development. The result is a developing brain with fewer stem cells, shortening the crucial period during which the brain forms as an embryo.

This discovery provides answers for families of people with this rare disease. It has also allowed family members to undergo mutation screening so that they can make informed choices about family planning. For example, for prospective parents who carry the mutation, genetic counselors can recommend genetic testing to their partners and give them the chances of passing on the disease.

With advances in gene-editing technology, the mutation could one day be corrected with the knowledge gained from this study. While such a step may not be possible for years, Cervantes says it would bring him comfort to know that his daughter contributed to the discovery of a cure.

“Maybe one day the next city of Adelaide will have a treatment and there will be an answer for this family. And isn’t it amazing to think that my little girl played a part in all of that?”