Boston

ROHHAD syndrome is a rare condition characterized by rapid onset obesity, problems with breathing control, hypothalamic dysfunction, and autonomic nervous system issues. The syndrome usually begins around 1.5 years of age with rapid weight gain and includes symptoms like excessive hunger, hormone problems, and irregularities in temperature and blood pressure. Some children may also have developmental or behavioral challenges, and a portion develop tumors from nerve tissue. This research aims to study the cellular changes in the hypothalamus that may explain these symptoms by comparing affected children to their unaffected family members. The study involves collecting blood samples from children with ROHHAD syndrome and their unaffected relatives to create patient-specific hypothalamic cells. These cells will undergo transcriptome profiling to analyze gene expression differences. Selected patients may also undergo detailed metabolic testing to better understand the causes of the rapid weight gain associated with ROHHAD syndrome. Participants will be involved for up to two years, during which their blood will be used to generate hypothalamic cells for analysis. Researchers will monitor changes in gene activity to identify differences linked to the syndrome. The main outcome measure is the change in gene expression profiles in hypothalamic cells between affected children and their relatives. This study will help clarify the biological processes behind ROHHAD syndrome and its rapid onset obesity.