Awarded Grants

Awarded Grants

Jumpstart, 2025, Grant Assistance Program, Bloom Syndrome Million Dollar Bike Ride Jumpstart, 2025, Grant Assistance Program, Bloom Syndrome Million Dollar Bike Ride

An Evaluation of Gene Modification Strategies for Bloom Syndrome

Caroline Kuo

University of California, Los Angeles

$50,000

Awardee: Caroline Kuo

Institution: University of California, Los Angeles

Awarded: $50,000

Funding Period: April 1, 2025 – March 31, 2026

Summary: To date, no studies have assessed the feasibility of gene modification as a potential treatment for Bloom syndrome. This project outlines specific aims that include proof-of-concept experiments essential for evaluating the viability of gene therapy as a therapeutic option for this condition

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Jumpstart, 2025, Grant Assistance Program, Bloom Syndrome Million Dollar Bike Ride Jumpstart, 2025, Grant Assistance Program, Bloom Syndrome Million Dollar Bike Ride

The Somatic Mutational Landscape Of Blm-Deficient Tumors: Finding Clues for Future Therapeutic Opportunities

Richarda de Voer

Radboud University Medical Center (Stichting Radboud Fonds)

$150,000

Awardee: Richarda de Voer

Institution: Radboud University Medical Center (Stichting Radboud Fonds)

Awarded: $150,000

Funding Period: April 1, 2025 – March 31, 2027

Summary: Despite cancer surveillance strategies >80% of individuals with Bloom syndrome (BSyn) will have developed a malignancy by the age of 40 years. Treatment of malignancies in individuals with BS is still mostly based on standard-of-care treatments. With this proposal we aim to unravel the (mutational) mechanisms responsible for tumor initiation and progression in individuals with BSyn. We expect to gain insights into the processes relevant for tumor development in individuals with BSyn, leading to clues for future therapeutic opportunities. We will repurpose archived tumors from individuals with BSyn to:

1. Perform whole-exome or whole-genome sequencing to determine the somatic single base and small indel mutation landscape, investigate mutational signatures of defective DNA repair, mutated driver genes and identify potential signs of homologous recombination deficiency (HRD);

2. Explore the immune landscape of tumors using multiplex immunohistochemistry.

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Jumpstart, 2025, Grant Assistance Program, bloom Syndrome Million Dollar Bike Ride Jumpstart, 2025, Grant Assistance Program, bloom Syndrome Million Dollar Bike Ride

Novel Approaches to Cancer Surveillance in Bloom Syndrome

Vivian Chang

University of California, Los Angeles

$150,000

Awardee: Vivian Chang

Institution: University of California, Los Angeles

Awarded: $150,000

Funding Period: April 1, 2025 – March 31, 2027

Summary: There is a general lack of data on effective cancer surveillance in most rare cancer predisposition disorders and this remains a challenge for patients with Bloom syndrome as well. A landmark study of patients with a different rare cancer predisposition disorder known as Li-Fraumeni Syndrome caused by germline TP53 variants showed that biochemical and imaging surveillance is feasible and associated with improved long-term survival. Standard cancer surveillance approaches though have limitations, including expense and invasiveness, leading to decreased compliance. Emerging technologies that enable longitudinal “liquid biopsies” have shown significant promise to detect cancer through peripheral blood sampling. The long-term goal of this project is to establish an international collaboration with sharing of biospecimens and data across borders in order to develop, validate, and test effectiveness of novel, minimally invasive cancer surveillance methods.

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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.

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