NEW YORK and PARIS, Nov. 15, 2023 /PRNewswire/ --The PolG Foundation is a nascent foundation established in 2022 by a PolG family, with the mission to support and accelerate research to find effective treatments and a cure for PolG mitochondrial disorders.
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With both a dedicated and experienced Board of Directors and Scientific Advisory Board, including some of the top mitochondrial scientists in the world, the Foundation is quickly becoming a leading funder of basic, translational, and clinical PolG research. Working with the global scientific community, we are investing in developing critical tools and continue to make our findings available to mitochondrial scientists, clinicians, and patients worldwide.
In addition to the development of IPS Cell Lines, RNA Sequencing and two transgenic mouse models for the use of PolG researchers, the Foundation is also actively working on the creation of a PolG global registry and prospective natural history study.
Frederik de Nassau, a POLG warrior and son of founding parents, designs a MITO clothing line to raise awareness and funds for The PolG Foundation. View Shop - https://shopmito.polgfoundation.org/
A 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 populations. 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 how the disease develops and progresses, to monitoring phenotypes with outcome measures. Herewith, we are committed to discovering and developing potential new medicines and therapies.
As a standard bearer for the global PolG community, we are deeply moved by all the interest and support received from individuals, foundations, scientific, biotech, pharma, patient advocacy and medical ecosystems. With your help and financial backing we can further our ambitious mission by discovering new therapies and a potential cure for PolG. Thank you!
www.polgfoundation.org
Donate:
https://polgfoundation.kindful.com/
©2023 | The POLG Foundation is a 501(c)(3) non-profit organization. EIN 87-1876876. Donations are tax-deductible in the USA as allowable by law. Donations may be sent to: THE POLG FOUNDATION, 99 Park Ave., 24th Floor, New York, NY 10016
Contact:
Paula Casanova
paula@polgfoundation.org
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