Human Corpus Callosum Dysgenesis

Human Corpus Callosum Dysgenesis (CCD)

If you have CCD and would like to partner with us so that we may better understand these disorders, please see

Corpus Callosum Dysgenesis (CCD) can be part of a syndrome or occur in isolation.  It is a brain developmental disorder that profoundly affects how the brain is wired.  We work in partnership with people who have CCD to understand how this condition impacts their cognitive, social, and emotional function as a way to understand the normal function of the corpus callosum. 

CCD is a structural diagnosis usually based on an MRI (magnetic resonance image) or ultrasound scan. We use research techniques to investigate details about how brain wiring is altered in CCD compared to neurotypical individuals. We also conduct neuropsychological and cognitive tests to understand how CCD impacts a variety of brain functions. Finally, we are interested in the genetic causes of CCD. To discover genetic changes in CCD we study DNA in the affected person and their family members and then we use this information to investigate how the identified genetic changes cause CCD. Our laboratory does not conduct diagnostic testing or clinical assessments.

Our scientific research is seeking to understand:

  1. How brain connectivity underpins the function of the brain.
  2. Understand the underlying causes of CCD.

If you have CCD and would like to partner with us so that we may better understand these disorders, please see our Information for Participants page.

Relevant Publications:

  • Barker MS, Knight JL, Dean RJ, Mandelstam S, Richards LJ, Robinson GA. (2021) Verbal Adynamia and Conceptualization in Partial Rhombencephalosynapsis and Corpus Callosum Dysgenesis. Cogn Behav Neurol. 34(1):38-52. PMID: 33652468. Article
  • Spencer-Smith M, Knight JL, Lacaze E; Irc5 Consortium, Depienne C, Lockhart PJ, Richards LJ, Heron D, Leventer RJ, Robinson GA. (2020) Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations. Dev Med Child Neurol. 62(6):758-762. PMID: 32060908. Article
  • Lennox AL, Hoye ML, Jiang R…Richards LJ, Barkovich AJ, Floor SN, Silver DL, Sherr EH. (2020) Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. Neuron. 106(3):404-420. PMID: 32135084. Article