Recent advances in neuroimaging (including sonography, CT and MRI) have led to the in utero identification of numerous developmental malformations of the midbrain and hindbrain including those leading to hydrocephalus. Furthermore, in parallel to the advances in imaging, remarkable progress has been made in the identification of genes that contribute to these congenital anomalies.
All of these advances have the potential to lead to early detection, enhanced diagnosis and new therapeutics. However, currently, there is an inconsistency in the detection, diagnosis and classification of these disorders; these result in numerous clinical issues for the patient populations.
CSF staff will attend this focused workshop that brings together 30-35 researchers who are leaders in the fields of midbrain/hindbrain malformations and hydrocephalus. There are four main objectives to facilitate both the basic and clinical research in midbrain/hindbrain malformations and hydrocephalus with the long term goal to enhance the detection, diagnosis and classification of these disorders as well as to identify potential biological pathways to lead to new therapeutics.
1. Classifications and diagnosis: purpose and problems 2. Genetics of Midbrain/Hindbrain Malformations and Hydrocephalus: common biology? 3. Animal models of Midbrain/Hindbrain Malformations and Hydrocephalus: what can we learn? 4. New Models for Thinking about Midbrain/Hindbrain Malformations and Hydrocephalus and Potential Treatments
A deliverable will be a white paper summarizing the results of the discussions and prioritized recommendations for the field for improved classification, identification of research opportunities, and defining “winnable battles” for gaps in the field.