Awarded Grants
Awarded Grants
Utilizing the PS Gene Editing System to Encode a Blood‐Brain Barrier‐Penetrating IDUA as a Treatment for Murine Hurler Syndrome
Michael Przybilla
University of Minnesota
$165,000
Awardee: Michael Przybilla
Institution: University of Minnesota
Award Amount: $165,000
Funding Period: February 1, 2023 - January 31, 2024
The new lysosomal activator GHF201 (144DG11) as a potential treatment for mucopolysaccharidosis I”
Or Kakhlon
Research Fund of the Hadassah Medical Organization
$165,000
Awardee: Or Kakhlon
Institution: Research Fund of the Hadassah Medical Organization
Award Amount: $165,000
Funding Period: February 1, 2023 - January 31, 2024
Model systems to study the Bloom Syndrome Helicase in Homologous Recombination
Roger Greenberg
University of Pennsylvania
$100,000
Awardee: Roger Greenberg
Institution: University of Pennsylvania
Awarded: $100,000
Funding Period: September 1, 2022 - August 31, 2024
Project Summary:
Bloom Syndrome arises due to inherited mutations in the gene that encodes the BLM helicase. Patient cells experience myriad alterations to their DNA due to deficiency in specific aspects of a DNA repair process known as homologous recombination. We have developed systems that allow us to identify the function of the BLM helicase in DNA repair at a defined region of the human genome. We have used these approaches to publish high impact papers during this funding period that describe the role of BLM in DNA repair. In year two of this project, we expect to gain a better understanding of how BLM helicase acts to direct DNA repair and strategies to bypass the need for BLM when mutations in the BLM gene arise.
Publications:
Zhang T, Rawal Y, Jiang H, Kwon Y, Sung P, and Greenberg RA. Break Induced Replication Orchestrates resection dependent template switch. Nature 619(7968):201-208, 2023.
Jiang H, Zhang T, Kaur H, Shi T, Krishnan A, Kwon Y, Sung P, and Greenberg RA. BLM helicase unwinds lagging strand substrates to assemble the ALT telomere damage response. Molecular Cell 84(9):1684-98, 2024.
Identification and characterization of factors that suppress Bloom syndrome genomic instability
Maria Jasin
Memorial Sloan Kettering Cancer Center
$100,000
Awardee: Maria Jasin
Institution: Memorial Sloan Kettering Cancer Center
Awarded: $100,000
Funding Period: September 1, 2022 - August 31, 2024
Development of Normal and Tumor Organoids from Bloom Syndrome to Evaluate Responses to Pharmacological and Genetic Perturbations
Nathan Ellis
University of Arizona
$150,000
Awardee: Nathan Ellis
Institution: University of Arizona
Awarded: $150,000
Funding Period: September 1, 2022 - August 31, 2024
Multi-organ Gene Therapy for Bloom Syndrome
Amy Wagers
Harvard University
$100,000
Awardee: Amy Wagers
Institution: Harvard University
Awarded: $100,000
Funding Period: September 1, 2022 - August 31, 2024
Molecular mechanisms of EPHB4 pathogenesis – towards new treatment development for lymphatic anomalies
Silvia Martin Almedina
St. George’s University of London
$25,000
Awardee: Silvia Martin Almedina
Institution: St. George’s University of London
Awarded: $25,000
Funding Period: September 1, 2022 - August 31, 2023
Analysis of a new therapeutic approach to inhibit osteolysis in Gorham-Stout Disease
Michela Rossi, PhD
Bone Physiopathology Research Unite, Bambino Gesu Children’s Hospital, Rome
$25,000
Awardee: Michela Rossi, PhD
Institution: Bone Physiopathology Research Unite, Bambino Gesu Children’s Hospital, Rome
Awarded: $25,000
Funding Period: September 1, 2022 - August 31, 2023
iPSCs for Fibrodysplasia Ossificans Progressiva
Danielle Kerkovich
International Fibrodysplasia Ossificans Progressiva Association
Awardee: Danielle Kerkovich
Association: International Fibrodysplasia Ossificans Progressiva Association
Funding Period: July 27, 2022
iPSCs for Bloom Syndrome
Mary Campbell
Bloom Syndrome Association
Awardee: Mary Campbell
Association: Bloom Syndrome Association
Funding Period: July 27, 2022
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