Velo-Cardio-Facial Syndrome

  • View
    30

  • Download
    2

Embed Size (px)

DESCRIPTION

Velo-Cardio-Facial Syndrome. PRINCIPAL INVESTIGATOR: Marek Kubicki, MD, PhD INVESTIGATORS: Zora Kikinis, PhD Sylvain Bouix, PhD Marc Niethammer, PhD Martha Shenton, PhD Christine Finn, MD Raju Kucherlapati, MD RESEARCH ASSISTANT: Kate Smith, BA. Velo-Cardio-Facial Syndrome (VCFS). - PowerPoint PPT Presentation

Text of Velo-Cardio-Facial Syndrome

Velo-Cardio-Facial SyndromeMay, 2007
Velo-Cardio-Facial Syndrome
PRINCIPAL INVESTIGATOR:
May, 2007
Velo-Cardio-Facial Syndrome (VCFS)
Deletion of the fragment of short arm of the 22nd chromosome (single copies of 30 to 45 genes missing)
Prevalence 1 in every 4000 newborns
Clinical symptoms:
“kardia" greek meaning heart
Cognitive symptoms:
Psychomotor deficits
Emotional abnormalities (flat affect and poor social interaction).
High incidence for schizophrenia and/or bipolar disorder in adult (30% VCFS patients develop schizophrenia), and 4-5 genes have been suggested to be related to schizophrenia (COMT- attention, memory, prefrontal function; RTN4R- axonal regeneration and plasticity)
National Alliance for Medical Image Computing http://na-mic.org
May, 2007
Early intervention
May, 2007
Brain imaging (MRI, DTI and fMRI)
Analysis of imaging data, and genetic correlations
National Alliance for Medical Image Computing http://na-mic.org
May, 2007
Two stages:
Available now:
7 VCFS and 7 matched control cases scanned on 1.5 T magnet (DTI and structural scans)
15 schizophrenics and 15 control cases scanned on 3T magnet (DTI and fMRI) plus 1.5T chronic schizophrenia data (DTI and structural scans)
Available by the end of the year:
15 VCFS and 15 matched control cases scanned on 3T magnet (DTI, structural scans and fMRI)
National Alliance for Medical Image Computing http://na-mic.org
May, 2007
DLPC (executive function, memory)
Orbital Frontal Gyrus (emotion)
Cingulate Gyrus (attention, emotion)
Tracts that we want to study with DTI (frontal-temporal connections):
Fornix (memory)
Networks that want to study with fMRI :
Memory, attention, emotion, language (semantic processing)
National Alliance for Medical Image Computing http://na-mic.org
May, 2007
Specific Requirements
Tools for measuring anatomical connectivity between these regions (optimal path analysis, stochastic tractography).
“Default network” and “rest” fMRI analysis.
Anatomical (DTI), and functional (fMRI) connectivity analysis.
National Alliance for Medical Image Computing http://na-mic.org
May, 2007
Progress So Far
Automatic DLPC segmentation.
John and Brad finished the slicer2 module, its being tested and used for first episode schizophrenia study now.
Automatic segmentation of other structures (orbital frontal cortex, cingulate gyrus, hippocampus).
We have limited experience with freesurfer and cingulate, have not tried Killian’s segmentation for anything other than STG.
Tools for measuring anatomical connectivity between these regions (optimal path analysis, stochastic tractography).
Optimal Path Analysis- we used it, but its not yet in the slicer, there might be some problems with it. Same with Stochastic tractography.
“Default network” fMRI analysis, functional connectivity analysis.
Polina and Sandy might have some tools, but we have not tried them yet.
National Alliance for Medical Image Computing http://na-mic.org
May, 2007
May, 2007
VCFS (atlas?).
(e.g., optimal parameter selection for EM segmenter
based on training data).
Capabilities for batch processing.
May, 2007
COMT (controls dopamine degradation in prefrontal cortex, related to attention and memory)
RTN4R (also known as Nogo 66, related to axonal regeneration and plasticity)
PRODH
ZDH8
SNAP29
TBX1