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Sanford CoRDS Great Plains Rare Disease Day Summit 2020

The 2020 Sanford CoRDS Great Plains Rare Disease Day Summit went virtual this year with a focus on technologies and clinical tools for therapy development in lysosomal storage disorders. In addition to presentations made by Patricia Dickson, MD- Professor of Pediatrics and Genetics, Washington University in St. Louis, Steven Gray, PhD - Associate Professor, University of Texas Southwestern Medical Center, Kevin Francis, PhD - Assistant Scientist, Sanford Research, Hung Do, PhD – Chief Scientific Officer, Amicus Therapeutics, BPAN Warriors SMAB member, Tassula Proikas-Cezanne, PhD - Professor of Molecular Biology and Cell Biology, Eberhard Karls University, Tübingen, Germany, opened today's sessions with a presentation on The Role of Autophagy in Beta-Propeller Protein-Associated Neurodegeneration (BPAN). We will share the link to the recorded sessions as soon as it is made available.

In addition, a poster abstract and a video describing the Exploration of WDR45 function and contribution to BPAN is now currently available for viewing. Louis-Jan Pilaz, Brandon Meyerink, and Jill M. Weimer (Department of Basic Biomedical Sciences, University of South Dakota and Weimer Labs, Pediatrics and Rare Disease Group, Sanford Research) explore the function of the WDR45 protein in a neuronal context and discover its role in the mechanisms which underly the neurodegenerative disease BPAN.

Exploration of WDR45 function and contribution to BPAN

Presented by: Brandon Meyerink | Weimer Lab

Note: To engage and ask questions to the presenting authors, please use the email listed and use subject line "CoRDS Summit Poster"

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  • WDR45 likely plays a role in autophagy but alternative interactors are still being explored. BioID screen will give candidate interactors and highlight pathways that may be affected in BPAN.

  • High content fibroblast imaging will explore cellular phenotypes of BPAN patients

  • iGONAD allows for genetic engineering of mouse models. We will use this technique to make a new patient analogous mouse model that better mimics BPAN disease in humans

The research is supported by the Don’t Forget Morgan foundation (LJP) and USD Neuroscience, Nanotechnology and Networks program through a grant from NSF (DGE-1633213) (BLM).

1 commentaire

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