CCHS Research

The CCHS Network is committed to investigational studies into the molecular mechanisms of CCHS, best clinical practices in CCHS, and best patient-centered outcomes research. The CCHS Network partners with CCHS Clinical Centers of Excellence, CCHS research laboratories, respiratory and pharmacological companies, and other CCHS patient organizations to champion research initiatives that will improve patient health outcomes. Learn more about our CCHS Grant Awards.

The CCHS Network relies on the CCHS Research Advisory Board to assess research quality. This board is comprised of CCHS family members who are medical professionals and CCHS clinical specialists. They apply an NIH criteria when judging research excellence.

Research Projects of CCHS Network


CCHS Network One World (NOW) Registry

In the 2016 the CCHS Network was chosen, after a competitive selection process, to partner with the National Organization of Rare Disorders (NORD), to develop a Natural History Study of CCHS. The goal of this registry is to expand the current knowledge of the syndrome, as well as to aid medical professionals and researchers in the identification of important aspects and treatment of CCHS. Please contact the CCHS NOW Registry for more information about this work and how to join this important project.

Gene Expression Profile of Specific Respiratory Brainstem Neurons Sensitive to CCHS Mutations in Mice

research_miceA small cluster of excitatory brain cells (neurons) serve as an integrative nexus for control of breathing; these neurons express Phox2b, the transcription factor that is mutated in CCHS, and their dysfunction is implicated in the central hypoventilation associated with CCHS. The proposed work uses cutting-edge, single cell sequencing approaches to provide a first comprehensive examination of the genes that are uniquely expressed in these Phox2b-expressing neurons. This work will provide new information regarding the molecular genetics of this vulnerable population of brain cells, and thus new understanding of how those cells perform their specific functions that are critical for breathing and disrupted in CCHS.


Next Generation Sequencing (NGS) Approach to Deepen into PHOX2B Mutations Mediated Pathogenesis
and to Identify Drugs Able to Rescue Cellular and Molecular Defects in CCHS

research_ngsOne of the main obstacles preventing the development of a pharmacological strategy effective in counteracting the damaging effects of PHOX2B mutations in CCHS is the limited knowledge we have gained so far about the patho-physiology of PHOX2B: the genes it regulates, the companion protein factors it interacts with, the time when and the place where its action is indispensable, the pathways it is involved in, the gene networks it gives rise to are poorly known or still lacking information. Therefore, in the present pilot study, 1) genes and pathways involved in PHOX2B mutations mediated pathogenesis will be identified by assessing the gene expression profile of cell lines bearing different PHOX2B mutation; 2) these results will be used, applying proper statistical approaches, to rank genes and pathways resulting to drive the most deleterious effects of PHOX2B mutations in CCHS cell models: the top ones will represent highly desired drug targets; 3) drugs that may have a beneficial effect in CCHS will be predicted starting from above differential gene expression data and taking advantage of available online tools (the Ingenuity Pathway Analysis (IPA), the Connectivity Map (cMap), and the Mode of Action by NeTwoRk Analysis (MANTRA) that do examine the connections among diseases, genes and drugs. Successive stages of this research will be drugs identified as potentially beneficial will be validated in vitro and eventually assessed in clinical trials.