The following list provides information regarding on-going research studies related to agenesis of the corpus callosum ACC) and other callosal disorders. The National Organization for Disorders of the Corpus Callosum (NODCC) does not directly sponsor or endorse specific scientific research programs, but in general does encourage research because it allows for advances to be made in the study of disorders of the corpus callosum. If you are interested in participating in or learning more about these projects, please contact the project coordinators. If you have general questions about these proposals,you are welcome to contact Dr. Elliott Sherr, Chair of the NODCC Scientific Advisory Board, at
sherre@neuropeds.ucsf.edu or 415-502-8039.
Beth Israel Medical Center Boston, Massachusetts
California Institute of Technology Pasadena, California
Calvin College Grand Rapids, Michigan
Centre for the Study of Brain Diseases Montreal, Canada
King’s College London London, England
Northwest Nazarene University Nampa, Idaho
Travis Research Institute Pasadena, California
University of California San Francisco, California
Beth Israel Medical Center and Harvard Medical School Boston, Massachusetts
Principal Investigator: Dr. Christopher A. Walsh
Research Description: The laboratory of Dr. Christopher A. Walsh at Beth Israel Medical Center and Harvard Medical School in Boston is conducting two studies on the genetics of agenesis of the corpus callosum; searching for genes involved with two conditions that each has ACC as a feature: (1) Agenesis of the corpus callosum with interhemispheric cyst (a cyst between the two halves of the brain)(2) Agenesis of the corpus callosum with microcephaly (small head size). The study is trying to identify the gene that may be responsible for each of these conditions. Discovering such a gene will help to understand the process of brain development; and may allow the possibility of genetic testing for close family members. Participating families are asked to send a blood sample from the affected individual as well as each parent. The study also requests to review medical records and any brain imaging studies done (e.g. MRI or CT). You do not need to travel to Boston to participate in this study.
Contact Information: Please contact Brenda Barry, MS Phone: 617-667-8035 or Jennifer Partlow, MS Phone: 617-667-8044 Email: walshlab@bidmc.harvard.edu
California Institute of Technology Pasadena, California (in collaboration with Travis Research Institute)
Principal Investigators: Lynn K. Paul, PhD & Ralph Adolphs, PhD
Research Description: The Corpus Callosum Research Program at Caltech is studying the neural-mechanisms underlying common social and cognitive behaviors seen in individuals with Primary ACC. We are examining structural organization of the brains of people with ACC, as well as brain activity during common cognitive functions, using sophisticated neuroimaging techniques and analysis. We also examine behavior using advanced techniques in eye-tracking, psychophysiology, and EEG. Together, these neuroimaging and behavioral studies provide critical insight into the social-cognition and emotional processing patterns common in ACC, information that will ultimately aid in more effective treatment planning.
Enrollment Criteria: Individuals with complete or partial ACC, minimal additional brain abnormalities, and normal-range IQ scores are welcome to participate.
Contact Information: Please contact Lynn K. Paul, PhD Phone: 626-395-4077 Email:lkpaul@hss.caltech.edu
Calvin College Grand Rapids, Michigan
Principal Investigator: Paul Moes, PhD
Research Description: Idiom comprehension in children with complete ACC; the purpose of this study is to explore the details of language comprehension difficulties in children with ACC. Participants will participate in cognitive and behavioral testing over a two day period that will include a functional MRI and magneto encephalography.
Enrollment Criteria: Children between the ages of 9 and 14 who have complete ACC and have an IQ in the normal range (above 80) are encouraged to apply. Seeking families who are in Michigan or neighboring states.
Contact Information: Please contact Paul Moes, PhD Email: pmoes@calvin.edu
Calvin College Grand Rapids, Michigan and University of Maine Orono, Maine
Principal Investigators: Paul Moes, PhD, Gary Schilmoeller, PhD, Kathryn Schilmoeller, PhD
Research Description: This study surveyed 720 families to learn about physical, motor, sensory, and developmental features associated with ACC. Data from individuals with ACC were compared with their siblings to identify what features may be associated with ACC versus other conditions. The study’s intent was to generate information that will help individuals with ACC, their families, and professionals to develop services based on empirical evidence rather than misinformation; and to highlight new research questions about ACC.
Contact Information: Paul Moes, PhD Email: pmoes@calvin.edu; Kathryn Schilmoeller Email: um-acc.maine.edu;
Gary Schilmoeller, PhD Email: gary_schilmoeller@umit.maine.edu
Centre for the Study of Brain Diseases, CHUM Research Centre Montreal, Canada
Principal Investigator: Guy A. Rouleau, MD, PhD
Research Description: This research group recently identified the gene responsible for the most common form of inherited ACC in Quebec, Canada. This study seeks to find out whether this same gene is responsible for ACC in other populations across North America.
Contact Information: Please contact Melanie Benard, Project Coordinator
Phone: 514-890-8000 ext. 24857 Email: melanie.benard.chum@ssss.gouv.qc.ca
King’s College London London, England
Principal Investigator: Dr. Francesca Happe
Research Description: Dr. Francesca Happe and her colleague, Rhonda Booth, would like to understand the nature of the social and emotional processing difficulties in people with ACC and how this relates to problems understanding others’ thoughts and feelings. Participants will be asked to complete a number of cognitive and emotional standardized testing lasting 2.5 to 3.5 hours. A questionnaire for parents or caregivers, lasting 1+ hour will also be requested.
Enrollment Criteria: Eligible study participants include individuals with isolated ACC, aged 6 to 60, with an IQ >80
Contact Information: Please contact Dr. Francesca Happe, Reader in Cognitive Neuroscience, SGDP Centre, Institute of Psychiatry, King’s College London Phone: 626-584-5533 Email: f.happe@iop.kcl.ac.uk
Northwest Nazarene University Nampa, Idaho
Principal Investigator: Glena Andrews, PhD
Research Description: This is a survey study examining behavior across the age span in children with ACC. Surveys included the Behavioral Trait Survey (BTS) and Child Behavior Checklist (CBCL). Results will be examined in comparison to samples of children diagnosed with other conditions (autism and fetal alcohol spectrum disorders). The goal of the study is to gather behavioral information that can guide educators and practitioners in making appropriate referrals for diagnostic assessment and in developing individualized education plans that are more beneficial to individual student needs.
Contact Information: Please contact Glenna Andrews, PhD Email:
glandrews@nnu.edu
Travis Research Institute Pasadena, California
Principal Investigators: Warren S. Brown, PhD & Lynn K. Paul, PhD
Research Description: This project is examining the cognitive and psychosocial profile of individuals with complete or partial ACC. The goal of this research is to gain a better understanding of the behaviors common in individuals with ACC and thereby to examine the impact of corpus callosum on complex cognitive and social behaviors. Testing is conducted both on-site in Pasadena and via the internet. Individuals with complete or partial ACC, minimal additional brain abnormalities, and normal-range IQ scores are welcome to participate.
Contact Information: Please contact Lynn K. Paul, PhD Phone: 626-395-4077 Email: lkpaul@hss.caltech.edu
University of California San Francisco, California
Principal Investigator: Elliott H. Sherr, MD, PhD
Research Description: Dr. Elliott Sherr and his colleagues involved in the Brain Development Research Program (BDRP) at the University of California, San Francisco, are conducting research to understand the genetic causes of ACC, as well as to understand how MRI findings may help predict outcome and response to therapy. In order to develop a comprehensive understanding of ACC, the team is developing a database of ACC characteristics including: radiological images, genetic testing outcomes, neuropsychological profiles, as well as other significant data. Novel radiological and genetic tools are used to better understand the causes and problems associated with ACC. The study includes an interview, cognitive testing, physical examination by Dr. Sherr, review of medical records, and genetic testing across generations. You need not visit San Francisco to enroll in the study. For adults and older teens, additional studies that take place in San Francisco (DTI and MEG) are also available.
Enrollment Criteria: Individuals with complete or partial ACC diagnosed by MRI are welcome to join the study
Contact Information: Please contact Mari Wakahiro, Project Coordinator
Phone: 415-502-8039 Email: wakahirom@neuropeds.ucsf.edu or sherre@neuropeds.ucsf.edu
