Virtual Annual Great Plains Rare Disease Summit

Sanford CoRDS Great Plains Rare Disease Day Summit

CoRDS will be hosting the annual summit virtually this year with a focus on technologies and clinical tools for therapy development in lysosomal storage disorders.

Agenda

9:00 a.m. - Welcome Address

Benjamin Forred – Director, Clinical Research – Genetics & Genomics and the CoRDS Registry

 

9:15 a.m. - The Role of Autophagy in Beta-Propeller Protein-Associated Neurodegeneration (BPAN)

Tassula Proikas-Cezanne, PhD - Professor of Molecular Biology and Cell Biology, Eberhard Karls University, Tübingen, Germany

 

10:15 a.m. Making Miracles: Patient-Driven Therapies for Rare Diseases

 Patricia Dickson, MD - Professor of Pediatrics and Genetics, Washington University in St. Louis

 

11:15 a.m. On the Brink of Treatment Revolution for Inherited Nervous System Disorders

Steven Gray, PhD - Associate Professor, University of Texas Southwestern Medical Center

 

12:15 p.m. The Involvement of Astrocytes in Rare Neurological Diseases

Kevin Francis, PhD - Assistant Scientist, Sanford Research

 

1:15 p.m. Importance of properly glycosylated rhGAA for developing effective enzyme replacement therapy for Pompe disease.

Hung Do, PhD – Chief Scientific Officer, Amicus Therapeutics

 

 

Poster Presentations
Thank you for participating in the virtual poster presentation session.  To engage and ask questions to the presenting authors, please use the email listed under the respective poster and use subject line "CoRDS Summit Poster"

Analysis of Protein Dynamics in Motile Cilia of Mouse Tracheal Epithelial Cells Using High-Resolution Live Cell Imaging

Presented by : Casey McKenzie | Lee Lab 

Poster & Abstract

Video Presentation

Email: Casey.McKenzie@SanfordHealth.org 

 

Nuclear Rupture as a potential shared mechanism of nuclear envelope-associated progeria

Presented by: Rhiannon Sears | Roux Lab

Poster & Abstract

Video Presentation

Email: Rhiannon.Sears@SanfordHealth.org 

 

CLN5 and CLN3 function as a complex to regulate endosome-to-TGN trafficking

Presented by: Seda Yasa | Centre Armand-Frappier Santé Biotechnologie, Institut national de la recherche scientifique

Poster & Abstract

Video Presentation

Email: sedayasa.sy@gmail.com 

 

Endo-lysosomal processing of N-glycans on acid alpha-glucosidase is critical to attain the most active enzyme for hydrolyzing glycogen
Presented by: Nithya Selvan | Amicus Therapeutics
Poster & Abstract
Video Presentation

Email: nselvan@amicusrx.com 

 

Characterization of a novel porcine model of CLN3 Batten disease

Presented by: Vicki Swier | Weimer Lab

Poster & Abstract

Audio Presentation

Email: Vicki.Swiermosher@SanfordHealth.org 

 

Sterols lower energetic barriers of membrane bending and fission necessary for efficient clathrin mediated endocytosis

Presented by: Elle Anderson | Francis Lab

Poster & Abstract

Video Presentation

Email: Elle.Anderson@usd.edu

 

Exploration of WDR45 function and contribution to BPAN

Presented by: Brandon Meyerink | Weimer Lab

Poster & Abstract

Video Presentation

Email: Brandon.Meyerink@SanfordHealth.org

 

Genetic disruption of cholesterol biosynthesis inhibits astrocyte formation and function

Presented by: Bethany Freel | Francis Lab

Poster & Abstract

Video Presentation

Email: Bethany.Freel@SanfordHealth.org 

 

BioID reveals overlapping protein interactome for CLN3/6/8 and new roles in trafficking of synaptic machinery

Presented by: Mitchell Rechtzigel | Weimer Lab

Poster & Abstract

Video Presentation

Email: Mitchell.Rechtzigel@SanfordHealth.org

 

Sex-dependent impacts of environmental enrichment on Angelman Syndrome mice

Presented by: Alexander D. Kloth  Elizabeth A. Kiffmeyer  Lauren K. Kelly  Jameson A. Cosgrove | Augustana University

Poster & Abstract

Video Presentation

Email: Alexander.Kloth@augie.edu 

 

Sigma-1 receptor agonists as potential therapies for CLN6 Batten Disease

Presented by: Jessie Sadlon | Francis Lab

Poster & Abstract

Video Presentation

Email: Jessie.Sadlon@SanfordHealth.org