Awarded Grants
Awarded Grants
EXPLOITING NEURONS- AND BRAIN-DERIVED EXOSOMES AS BIOMARKER FOR CDKL5 DEFICIENCY DISORDER
Maurizio Giustetto
Univ. of Torino - Dept. of Neuroscience
$75,000
Awardee: Maurizio Giustetto
Institution: Univ. of Torino - Dept. of Neuroscience
Grant Amount: $75,000
Funding Period: February 1, 2022 - January 31, 2023
Summary:
The identification of objectively measurable parameters is urgently needed to speed up the diagnosis of CDKL5 deficiency disorder (CDD) and to evaluate the outcomes of both pre-clinical and clinical trials. Although exosomes, nanovescicles seceted by all cell types, can be exploited as unbiased, quantitative and non-invasive biomarker for clinical diagnosis, so far, no information is available on the molecular profile of exosomes in CDD. The goal of our proposal is to fill this gap and by establishing and validating a novel molecular, reliable biomarker for CDD patients.
ASO therapy in CDKL5 deficiency disorder
Michela Fagiolini, PhD
Boston Children's Hospital
$150,000
Awardee: Michela Fagiolini, PhD
Institution: Boston Children's Hospital
Award Amount: $150,000
Funding Period: May 1, 2021 - April 31, 2022
Comparison of Brain Biodistribution of Two CDKL5 Gene Therapy Vector Leads
Dolan Sondhi, PhD
Weill Cornell Medicine
$150,000
Awardee: Dolan Sondhi, PhD
Institution: Weill Cornell Medicine
Award Amount: $150,000
Funding Period: May 1, 2021 - April 31, 2022
Advancing a mosaic CDKL5 zebrafish model for high-throughput screening approaches
Christopher McGraw, MD, PhD
Boston Children's Hospital
$150,000
Awardee: Christopher McGraw, MD, PhD
Institution: Boston Children's Hospital
Award Amount: $150,000
Funding Period: May 1, 2021 - April 31, 2022
Defining ciliary signaling and targets in CDKL5 Deficiency Disorder
Peter K. Jackson, PhD
Stanford University School of Medicine
$150,000
Awardee: Peter K. Jackson, PhD
Institution: Stanford University School of Medicine
Award Amount: $150,000
Funding Period: May 1, 2021 - April 31, 2022
Impact of Cdkl5 deficiency on cortical dynamics and network architecture
Michael J. Higley, MD, PhD
Yale University
$150,000
Awardee: Michael J. Higley, MD, PhD
Institution: Yale University
Award Amount: $150,000
Funding Period: May 1, 2021 - April 31, 2022
Systems Analysis of the CDKL5-Deficiency Disorder (CDKL5-DD) Cerebrospinal Fluid Proteome
Victor Faundez, MD, PhD
Emory University
$150,000
Awardee: Victor Faundez, MD, PhD
Institution: Emory University
Award Amount: $150,000
Funding Period: May 1, 2021 - April 31, 2022
Characterization and correction of Cdkl5 nuclear function in human CDD neurons during maturation
Simone DiGiovanni, MD, PhD
Imperial College London
$149,277
Awardee: Simone DiGiovanni, MD, PhD
Institution: Imperial College London
Award Amount: $149,277
Elucidate the neural mechanisms underlying sleep disturbances and the relation between seizures and sleep-wake cycle in CDKL5 deficiency disorder (CDD)
Liqin Cao, PhD
Tsukuba University
$139,940
Awardee: Liqin Cao, PhD
Institution: Tsukuba University
Award Amount: $139,940
Visualizing the effect of CDKL5 deficiency on ciliary core structures
Alan Brown, PhD
Harvard Medical School
$150,000
Awardee: Alan Brown, PhD
Institution: Harvard Medical School
Award Amount: $150,000
Incorporation of functional unnatural amino acids into CDKL5 to study its function in cells
Maolin Guo, PhD
University of Massachusetts, Dartmouth
$150,000
Awardee: Maolin Guo, PhD
Institution: University of Massachusetts, Dartmouth
Award Amount: $150,000
Ascertaining the cell-autonomous effects of CDKL5 mutations in every brain cell type
Steven A. McCarroll, PhD
Harvard Medical School
$140,000
Awardee: Steven A. McCarroll, PhD
Institution: Harvard Medical School
Award Amount: $140,000
Assessing peripheral sensory neuron dysfunction in animal models for CDKL5 deficiency disorder
Lauren Orefice, PhD
Massachusetts General Hospital
$150,000
Awardee: Lauren Orefice, PhD
Institution: Massachusetts General Hospital
Award Amount: $150,000
CDKL5 regulation of ciliary assembly and signaling
Gregory J. Pazour, PhD
University of Massachusetts Medical School
$150,000
Awardee: Gregory J. Pazour, PhD
Institution: University of Massachusetts Medical School
Award Amount: $150,000
Structural/functional characterization of full-length hCDKL5 isoform 1 produced in recombinant marine bacteria and use of pharmacological chaperones to stabilize hCDKL5 missense mutants
Maria Luisa Tutino, PhD
University of Naples
$148,300
Awardee: Maria Luisa Tutino, PhD
Institution: University of Naples
Award Amount: $148,300
What are the functional consequences of CDKL5 dysfunction in human neuronal cells?
Nicole Van Bergen
Murdoch Children's Research Institute
$55,898
Awardee: Nicole Van Bergen
Institution: Murdoch Children's Research Institute
Award Amount: $55,898
Validation of pupil size as a biomarker for CDKL5 disorder: longitudinal assessment and relationship with disease severity
Tommaso Pizzorusso
University of Florence, Department NEUROFARBA
$51,382
Awardee: Tommaso Pizzorusso
Institution: University of Florence, Department NEUROFARBA
Award Amount: $51,382
Funding Period: February 1, 2019 - January 31, 2020
Zebrafish as model to analyze CDKL5 function
M. Leonor Cancela
University of Algarve/DCBM and Centre of Marine Sciences
$51,382
Awardee: M.Leonor Cancela
Institution: University of Algarve/DCBM and Centre of Marine Sciences
Award Amount: $51,382
Funding Period: February 1, 2019 - January 31, 2020
The neuropathology of CDKL5 disorder
Delia Talos
University of Pennsylvania SOM
$51,160
Awardee: Delia Talos
Institution: University of Pennsylvania SOM
Award Amount: $51,160
Funding Period: January 1, 2018 - December 31, 2018
Neuronal determinants of CDKL5 deficiency disorder: neuropathological, genetic and molecular analysis of postmortem brains
Maurizio Giustetto
University of Torino
$51,160
Awardee: Maurizio Giustetto
Institution: University of Torino
Award Amount: $51,160
Funding Period: January 1, 2018 - December 31, 2018