Our Research has 3 Aims:
1. To conduct longitudinal neuroimaging and deep phenotyping of infants to identify early markers and therapeutic targets for autism, Fragile X syndrome, Down syndrome, and Angelman syndrome.
We published the first MRI study to longitudinally measure brain growth trajectories in infants prior to their diagnosis of autism, which demonstrated that brain enlargement in autism is detectable in infancy. Additionally, in three independent studies and cohorts of children, we replicated the consistent finding that infants and toddlers who were diagnosed with autism had excessive volume of cerebrospinal fluid (CSF) surrounding the brain as early as 6 months of age, preceding the onset of diagnostic symptoms.
2. To reverse-translate these findings in children to mechanistic studies in animal models and in vitro cellular models.
Dr. Shen is P.I. of a new 5-year NIH-funded study, which has assembled a team of clinical and basic scientists to study early pathophysiology of CSF and its downstream effects on brain development – using neuroimaging in infants with NDDs and mechanistic studies in mouse models of these NDDs.
3. To forward-translate this research to clinical trials delivering novel therapeutics to individuals with neurodevelopmental disabilities (NDDs).
The CIDD Clinical Trials Program (co-directed by Mark Shen) is conducting several sponsored clinical trials and studies, collecting CSF samples for biomarker discovery, obtaining sleep and EEG measures, and delivering novel gene-based therapies via CSF to individuals with NDDs.
We currently have studies for the following developmental disabilities:
Down Syndrome:
1) A 3 year MRI study looking at the brain development of infants with Down syndrome.
2) A clinical trial looking at the efficacy of (INSERT DRUG) on behavior outcomes.
For more information: Click here
Fragile X Syndrome (FXS):
1) A 3 year MRI study looking at the brain development of infants with fragile X syndrome.
For more information: Click here
Rett Syndrome:
1) A 3 year EEG study looking at the early progression of Rett syndrome.
For more information: Click here
Angelman Syndrome (AS):
1) A 3 year MRI study looking at the brain development of infants with Angelman syndrome.
2) A clinical trial looking at the efficacy of genetic treatments on the function of UBE3A.
For more information: Click here
Autism Spectrum Disorder:
1) A 3 year MRI study looking at the brain development of infants at high risk for Autism.
For more information: Click here