One of the research and clinical areas of the Research Department of Unknown, Rare and Genetically Determined Diseases of the WCRC for Personalized Medicine are sleep-related breathing disorders of central origin. For example, a very rare disease is ROHHAD syndrome with rapid-onset obesity, central hypoventilation, hypothalamus dysfunction, and autonomic dysregulation. Approximately 160 cases have been reported worldwide (J. M. Lee, et al., 2018), in Russia there are 6 children, three of them are treated at Almazov Centre.
A pediatric team at the WCRC for Personalized Medicine for the first time described a new ROHHAD-like phenotype of a virus-associated immune-mediated damage to the hypothalamus in a 3-year-old girl.
For more, read the news release.