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The PolG Foundation Awards Over $3.5M in Academic Grants to Pioneer POLG Research

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NEW YORK, USA, October 11, 2023 / B3C newswire / -- The PolG Foundation is a nascent foundation established in 2022, with the mission to support and accelerate research to find effective treatments and a cure for PolG mitochondrial disorders. Among many activities, one central pillar of the foundation is to raise funding and provide grants to world-class investigators of basic science, clinical trial research and development of novel therapies for PolG mitochondrial disorders in both paediatric and adult PolG individuals. Today, The PolG Foundation is pleased to announce four awardees granted to our first Call for Research Initiatives proposals.

We are excited to see these grants being implemented by the four research groups who will pursue outstanding R&D work in the field of POLG biology:

▪ Prof Vamsi K. Mootha, Broad Institute of MIT and Harvard, Boston (USA)

  • Title: A variant-to-function map of POLG via deep mutational scanning
  • Synopsis of the work: POLG-deficiency is associated with tremendous allelic heterogeneity, and at present it is very challenging to know which observed variants are benign versus pathogenic.  The goal is to create a comprehensive dashboard for POLG that connects all possible variants to biological and biochemical functions. Next generation DNA synthesis to create a saturation mutagenesis library for POLG will be combined with functional genetic screens that quantitatively score POLG variants. It will be a durable toolbox that will be valuable for both basic research and clinical communities.

▪ Prof Anu Suomalainen Wartiovaara, University of Helsinki, Research Programs Unit, Faculty of Medicine (Finland)

  • Title:TargetPOLG: Mechanisms of POLG-disease and approaches to therapy
  • Synopsis of the work: The Finnish POLG patient’s cohort we support has the same homozygous mutation, however, manifest with a variability of symptoms, indicating that strong environmental and/or genetic factors affect the variable outcomes of POLG disease, from childhood to middle-age. Understanding and targeting such mechanisms have the potential to control the progression of POLG disease. Specifically, mechanisms will be explored and identified that might contribute and promote POLG-disease manifestations. Selected molecular targets will be tested and challenged to generate preclinical evidence for human trials.

▪ Dr Kristina Xiao Liang, Department of Clinical Medicine, University of Bergen (Norway) 

  • Title: Stem Cell-Based Study for Drug Discovery for POLG disease
  • Synopsis of the work: The overarching goal of the project is to establish a human stem cell-based 2D neural system and 3D brain organoid platform for drug discovery and to identify mitochondria-targeting therapies that are repurposing-ready and can quickly trigger clinical trials in POLG patients.

▪ Dr Yi Shiau Ng, Wellcome Centre for Mitochondrial Research (WCMR), Newcastle University (UK)

  • Title: Coalition for trial readiness in POLG (C4TR-POLG):Clinical trial readiness for POLG-related mitochondrial disease and ataxia: a prospective, longitudinal study identifying sensitive and ecologically valid biomarkers
  • Synopsis of the work: Studying treatments for ultra-rare forms of mitochondrial disease is challenging. Participant pools are small and restricted by rigid inclusion and exclusion criteria. There is often incomplete understanding of genotype–phenotype relationships and natural history to inform trial endpoint development. Tackling these disparities is recognised as a long-standing, complex conundrum. Leveraging value in multi- stakeholder innovative networks is urgently needed. 

Fully aligned with the strategy of the Foundation, these research grants cover different building blocks that characterise the disease: from understanding mechanistically how the disease develops and progresses, to monitoring phenotypes with outcome measures, and to discovering and developing potential new medicines.

As a Foundation, and as a hub for the POLG community, we are touched by the interest and support from the scientific, bio pharma, patient advocacy and medical ecosystem. For these reasons, we plan to further strengthen our footprint by enhancing our fundraising efforts to enable us to support more projects focusing on POLG disorders.   www.polgfoundation.org

Meet us @ World Mitochondria Society in Berlin (https://wms-site.com/)



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©2023 | The POLG Foundation is a 501(c)(3) non-profit organization. EIN 87-1876876. Donations are tax-deductible as allowable by law. Donations may be sent to: THE POLG FOUNDATION, 99 Park Ave., 24th Floor, New York, NY 10016

Keywords: Awards and Prizes; Mitochondrial Diseases; Multiple Organ Failure; DNA, Mitochondrial; DNA-Directed DNA Polymerase; DNA Polymerase gamma; Fund Raising; United States

Published by B3C newswire

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