Exploring ROHHAD through brain inflammation and hormones
Team leader, Dr Leslie Benson MD
Overview
The central hypothesis of our research is that ROHHAD arises from immune-mediated damage to the areas of the brain responsible for critical functions of life such as respiration and body weight balance. To assess this, our team is performing a number of multi-dimensional analyses on samples from children with ROHHAD syndrome, including autoantibody discovery, tumor examination, and neuroendocrine profiling. In addition to the specific, innovative studies proposed, our team hopes to create a large, accessible biorepository of ROHHAD samples that will serve as a resource for many future studies for this poorly understood disease.
Summary Of Project
Normally, our immune system fights off foreign invaders like viruses and bacteria. Sometimes, however, the immune system can get confused by a tumor, infection, or unidentified trigger, and begin to attack one’s own body. Broadly, the term for this is “autoimmunity.” There are medical reports of children with ROHHAD that indicate signs of nervous system inflammation, and response to treatments that suppress the immune system.
In light of this, our team is interested in studying whether an “autoimmune” attack on the brain and nervous system may cause ROHHAD syndrome. This approach to ROHHAD research is different from other projects focused on a possible genetic cause. Our hope is to identify biomarkers, clarify disease mechanisms and ultimately make progress toward better, targeted treatments.
How can you participate?
Our team is interested in collecting blood, spinal fluid, and tumor tissue from patients diagnosed with confirmed (or suspected) ROHHAD syndrome in order to explore what causes ROHHAD, how ROHHAD works, and ultimately to develop better treatments. Enrollment is ongoing.
If you would be interested in providing a blood sample or donating existing biospecimens to this project, please contact rohhad@childrens.harvard.edu for more information. Our team will cover the costs of shipping your samples to our lab in Boston.
Meet the Team
This project involves an interdisciplinary, multi-site collaboration between investigators at Boston Children’s Hospital and the DeRisi Laboratory at the University of California, San Francisco. With support from ROHHAD Fight, Inc., we have collected biospecimens on ROHHAD patients to further our aims of biomarker discovery, tumor investigation, and hormone analysis. Our team is optimistic about this innovative work and remains committed to investigating a potential neuro-inflammatory component to ROHHAD in hopes of improving the diagnosis, management, and treatment of this debilitating syndrome for all patients and families afflicted.
Leslie Benson, MD
Caleigh Mandel-Brehm, PhD
Lauren M. Kerr, BA