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Jose Otero, MD, PhD, & Jessica Winters, PhD

Award Name Pilot Grant
Award Date 08/17/2012


Stem cell modeling of autonomic nervous system disorders

Congenital central hypoventilation syndrome (CCHS) is a disorder that affects respiratory drive. Patients with CCHS are unable to breathe deeper or more rapidly, and therefore take shallow breaths. This eventually results in a shortage of oxygen and a buildup of carbon dioxide.

Normally, the part of the nervous system that controls involuntary responses, known as the autonomic nervous system, is able to sense when there is an imbalance between oxygen and carbon dioxide levels and cause a person to breathe deeper or wake up to help balance these levels. However, individuals who suffer from CCHS have an impaired autonomic nervous system, which makes them unable to sense this imbalance and adjust their breathing rate or be woken up. 

Researchers believe that some cases of sudden infant death syndrome (SIDS) or sudden unexplained death in children may be caused by undiagnosed CCHS. 

Jose Otero, MD, PhD, and Jessica Winters, PhD, were awarded a collaborative pilot grant from the CCTS for their research involving stem cells in the development of an experimental model for human diseases that could pave the road to a better understanding of CCHS and other autonomic nervous system disorders. In this study, thier research team attempted to model CCHS and other diseases that are caused by autonomic nervous system disorders.

“Understanding the mechanics behind the autonomic regulations is very important to pediatric disorders,” Otero said. 

The goal of this study was to produce neurons that come from the PHOX2B gene lineage. The PHOX2B gene provides instructions for making proteins that help neurons form and mature, a process known as “differentiation.” It is essential for the development of the autonomic nervous system.

“We know that mutations with the PHOX2B’s protein result in problems with the autonomic nervous system,” Otero said. “The key is figuring out how this occurs and ways to prevent it.”

Otero first became interested in autonomic disorders while working as a pathologist in San Francisco. During the first documented autopsy of a patient with CCHS, Otero noticed that some of his findings were not consistent with the mouse model that already existed for this disease. The discrepancies motivated him to continue researching this topic.

As of today, Otero is working with Jim Lee from the Ohio State College of Engineering on the adoption of a new promising methodology.

“The pilot grant we received from the CCTS was a huge success,” Otero said. “Most importantly, it helped me establish a relationship with (his Co-PI) Jessica Winters, which has resulted in multiple co-authored papers, new grants and the submission of two different NIH grants.”

By Ashley Narvaez, July 9, 2015

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