Awarded Grants
Awarded Grants
iPSCs for Shwachman-Diamond Syndrome
Eszter Hars
Shwachman-Diamond Syndrome Alliance
Awardee: Eszter Hars
Association: Shwachman-Diamond Syndrome Alliance
Funding Period: July 27, 2022
Mouse Model for CACNA1A gene mutations and related neurodevelopmental disorders
Lisa Manaster
CACNA1A Foundation
Awardee: Lisa Manaster
Foundation: CACNA1A Foundation
Funding Period: May 13, 2022
Mouse Model for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) (NR2F1 gene mutation)
Carlie Monnier
NR2F1 Foundation / COMBINEDBrain
Awardee: Carlie Monnier
Foundation: NR2F1 Foundation / COMBINEDBrain
Funding Period: May 13, 2022
Mouse Model for SLC13A5 Epilepsy (Citrate Transporter Disorder)
Tanya Brown
TESS Research Foundation
Awardee: Tanya Brown
Foundation: TESS Research Foundation
Funding Period: May 13, 2022
Mouse Model for SCN1A Gain of Function (ultra-early onset Dravet syndrome)
Ethan Goldberg
CHOP
Awardee: Ethan Goldberg
Insitution: CHOP
Funding Period: May 13, 2022
Utilizing patient iPSC-derived neurons to determine the functional consequences of longer cilia in CDKL5 Deficiency Disorder (CDD)
Mustafa Sahin, MD PhD
Boston Children’s Hospital
$149,241
Awardee: Mustafa Sahin, MD PhD
Institution: Boston Children’s Hospital
Award Amount: $149,241
Funding Period: May 1, 2022 - April 31, 2023
Computational drug repurposing for CDKL5 Deficiency Disorder
Diego Di Bernardo, PhD
Telethon Institute of Genetics and Medicine
$150,000
Awardee: Diego Di Bernardo, PhD
Institution: Telethon Institute of Genetics and Medicine
Award Amount: $150,000
Funding Period: May 1, 2022 - April 31, 2023
Rescuing functional defects in a zebrafish model of CDKL5 deficiency: Contribution to the identification of therapeutic target
M. Leonor Cancela, PhD
University of Algarve
$141,338
Awardee: M. Leonor Cancela, PhD
Institution: University of Algarve
Award Amount: $141,338
Funding Period: May 1, 2022 - April 31, 2023
A functional genomics approach to dissect the molecular bases of CDKL5 Deficiency Disorder
Davide Cacchiarelli, PhD
Telethon Institute of Genetics and Medicine
$150,000
Awardee: Davide Cacchiarelli, PhD
Institution: Telethon Institute of Genetics and Medicine
Award Amount: $150,000
Funding Period: May 1, 2022 - April 31, 2023
Hematopoietic stem cell gene therapy as a therapeutic approach for CDKL5 Deficiency Disorder
Joseph Anderson, PhD
University of California, Davis
$150,000
Awardee: Joseph Anderson, PhD
Institution: University of California, Davis
Award Amount: $150,000
Funding Period: May 1, 2022 - April 31, 2023