This page is dedicated to the Agenesis of the Corpus Callosum research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.

The Agenesis of the Corpus Callosum research study, was established at Boston Children’s in 2019 and led by Dr. Timothy Yu, has enrolled 24 patients.

Disease information

Agenesis of the corpus callosum is a condition present at birth where the structure that connects the two sides of the brain, called the corpus callosum, is either partially or completely missing. This structure is like a bridge that helps the left and right sides of the brain communicate with each other. When this bridge is missing or incomplete, it can lead to a range of symptoms, from mild learning difficulties to more significant developmental delays and seizures.

It is estimated that 30-45% of individuals with corpus callosum have an underlying genetic cause for their condition. Learn more about  at Boston Children’s.

Genes of interest

ARX CDK5RAP2 DCC GLI3 L1CAM NIPBL PAX6 SALL1 TUBA1A ZIC2

Participate in research

Physicians may refer their patients with agenesis of the corpus callosum to Dr. Yu. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about their research on Dr. Yu’s researcher profile.

Patient care

Patients and their families with agenesis of the corpus callosum can be seen by an expert multidisciplinary team in the Brain Development and Genetics Clinic or the Neurogenetics Program at Boston Children’s. 

Investigator

Tim Yu, MD, PhD

Divisions

Notable publications by investigators

  1. A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases.
  2. A framework for individualized splice-switching oligonucleotide therapy.
  3. How to pay for individualized genetic medicines.
  4. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.
  5. The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
  6. Biallelic mutations in human DCC cause developmental split-brain syndrome.
  7. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

Disease support organizations

National Organization for Disorders of the Corpus Callosum

The National Organization for Disorders of the Corpus Callosum is a  non-profit organization enhances the quality of life and promotes opportunities for individuals with disorders of the corpus callosum.

Fetal Health Foundation

The Fetal Health Foundation is a non-profit organization supports families with fetal syndrome diagnoses, funds life-saving research, and shares vital medical information.

FOXG1 Research Foundation

The FOXG1 Research Foundation is a non-profit organization accelerates research to find treatments and a cure for FOXG1 syndrome while supporting and advocating for patients and families worldwide.

Trusted sites

NORD Report