Research

Because of the unique nature of CAMP patients, the center has evolved into the largest and most comprehensive program in the world for the research study of congenital central hypoventilation syndrome (CCHS) and rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD). It has also emerged as a leader in the study of the genetic basis of CCHS and sudden infant death syndrome (SIDS).

The program used clinical symptoms of autonomic nervous system dysregulation (ANSD) in CCHS to guide study of candidate genes expressed early in the embryologic origin of the ANS, and to ultimately determine that PHOX2B is the disease-defining gene in CCHS.  Likewise, the program used clinical symptoms of autonomic nervous system dysregulation (ANSD) in SIDS to guide study of candidate genes expressed early in the embryologic origin of the ANS, in order to identify and study candidate genes that might account for this devastating condition.

Two major research efforts are currently underway within the program: the PHOX2B genotype/ANSD phenotype correlation in CCHS and the candidate gene studies in ROHHAD and SIDS. Another effort involves more clearly describing the autonomic phenotype in children with disorders of ANSD, for diseases in which the genetic basis is known — specifically Rett syndrome and familial dysautonomia.