The discovery led by a team at Sanford Burnham Prebys has defined the new, genetic disease through genome sequencing and cellular reprogramming.

A team led by researchers at Sanford Burnham Prebys Medical Discovery Institute in La Jolla has discovered a new, genetic disease that causes premature aging and deficits in brain function.

The discovery arose from the first-known project to combine genome sequencing with cellular reprogramming, which helped scientists identify the gene mutation responsible for causing the symptoms associated with the new disease.

The study, published March 19 in Nature Communications, began with a family of patients whose teenage members had progeria syndromes, or premature aging.

“It was clear from the patients’ progressive loss of motor skills and neurological and intellectual deficits that this was an unknown disease,” senior and corresponding author Su-Chun Zhang, MD, PhD, the Jeanne and Gary Herberger Leadership Chair in Neuroscience and the director of and professor in the Center for Neurologic Diseases at Sanford Burnham Prebys, said in a press release.

The research traced the disease to a mutation in the IVNS1ABP gene, which holds the instructional codes for building the protein IVNS1ABP, on which “relatively little research has been done,” Fang Yuan, PhD, staff scientist at Sanford Burnham Prebys and first author, said.

The next steps are to complement the findings with animal model studies (current;y being developed by the research team) to accelerate discovery of a treatment.

The study also highlights the importance of the use of the combined sequencing and reprogramming approach; this modality will be used to understand and treat rare and unknown diseases and disorders.