The Center for Cerebellar Malformations

 

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Genetic Study Information

 

The Gleeson lab is currently recruiting participants for studies into the genetic causes of pediatric neurological brain disorders including cerebellar and hindbrain malformations, mental retardation syndromes, autism, epilepsy and related disorders.

 

Participants:

Patients with any of the conditions described above and their families.  We are especially interested in families with more than one affected child or families in which the parents share blood ties (such as 1st cousin marriages).

 

Goals:

To identify the genetic factors behind these diseases to help patients and their families now and in the future.

 

Requirements:

Families will be asked to provide the following:

1.    Consent to participate in the study

Visit our forms page for more information

2.    Relevant medical history information, including copies of MRI scans

         Patient Questionnaire

3.    Pedigree information

Click here for a pdf of an example family tree

Click here to download a pdf of a family tree form

4.    A DNA or blood sample for analysis

Visit our DNA page for more information

Visit out Cell-Lines page for more information

 

The lab will cover ALL costs associated with the study.  Results are confidential.

 

The next step:

If know of any families who would be appropriate for this study and are interested in participating, please contact us.

 

v    Call for Patients with Joubert syndrome

v    Study Forms (consents and questionnaire)

v    Collecting DNA

v    Establishing Cell Lines