Virtual Annual Great Plains Rare Disease Summit

Sanford CoRDS 11th Annual Great Plains Rare Disease Day Summit (Virtual)

CoRDS will be hosting the annual summit virtually this year with a focus on technologies for modeling rare diseases

Agenda

Thursday, November 18th, 2021

Scientific Symposium

 

9:00 a.m. - Welcome Address

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

 

9:10 a.m. - 9:55 a.m. (CST) - In Vitro Bioengineered 3D models for Modeling Rare Diseases

Danilo A. Tagle - Associate Director for Special Initiatives, Office of the Director University/Institution: National Center for Advancing Translational Sciences, NIH

 

9:55 a.m. - 10:40 a.m. (CST) - Using Dental Pulp Stem Cells for the Study of Rare Neurogenetic Disorders

Dr. Lawrence T. Reiter, Ph.D - Professor, Department of Neurology at the University of Tennessee Health Science Center

 

10:40 a.m. - 11:15 a.m. (CST) - Leveraging CRISPR in the mouse to study rare diseases

Dr. LJ Pilaz, Ph.D - Assistant Scientist, Sanford Research

 

11:15 a.m. - 11:30 a.m. (CST)

Poster Session

 

11:30 a.m. - 12:00 p.m. (CST)

Lunch Break

 

12:00 p.m. - 12:45 p.m. (CST) - Longitudinal characterization of the Cln8mnd-/- mouse model of CLN8 Batten Disease - fine motor performance, retinal degeneration, brain pathology and metabolic changes.

Kimmo Lehtimaki, PhD - MRI Scientist, Study Director at Charles River Discovery, Finland

 

12:45 p.m. - 1:20 p.m. (CST) - Development and application of BioID and how it unexpectedly revealed insights into diseases of the nuclear envelope

Kyle J. Roux, PhD - Scientist, Enabling Technologies Group, Sanford Research

 

1:20 p.m. - 1:35 p.m. (CST)

Poster Session

 

1:35 p.m. - 2:20 p.m. (CST) - Hiding in plain site: TDP43 isoforms in amyotrophic lateral sclerosis and frontotemporal dementia

Sami Barmada, M.D., Ph.D. - Associate Professor of Neurology, University of Michigan

 

2:20 p.m. - 3:05 p.m. (CST) - Optimizing gene delivery throughout specific brain circuits to model and treat neurodegenerative diseases

Jodi McBride, PhD - Associate Professor of Neuroscience at Oregon Health & Science University at Portland, Oregon

 

3:05 p.m. - 3:15 p.m. (CST)

Closing Remarks

 

 

 

Friday, November 19th, 2021

Community Day

 

9:00 a.m. - 9:10 a.m. (CST) Welcome Address

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

 

9:10 a.m. - 9:50 a.m. (CST)

How to ramp a patient advocacy organization in 4 years

Nathan Peck - Founder and CEO of Cure VCP Disease, Inc &

Allison Peck - Co-Founder of Cure VCP Disease, Inc

 

9:50 a.m. - 10:30 a.m. (CST)

Finding your Rare Disease Community and Driving Action

Jean Campbell, Principal, JF Campbell Consultants LLC; Co-Founder, Professional Patient Advocates in Life Sciences (PPALS)

 

10:30 a.m. - 11:10 a.m. (CST)

MN Rare Disease Advisory Council: A Collective Approach to Raising Awareness and Improving Care for the Rare Disease Community

Erica Barnes - Chloe Barnes Advisory Council on Rare Diseases

 

11:10 a.m. - 11:50 a.m. (CST)

DRSD: Protecting and Advocating for Individuals with Disabilities

Sean A. Hegyi, JD, Esq.

 

11:50 a.m. -12:00 p.m. CST

Closing remarks

 

CoRDS will draw a name at the end of the event, winner can select where they would like CoRDS to donate $100.00. You must still be in attendance at the end of the event for the drawing.

 

 

 

 

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"

 

 

A novel Porcine model of CLN2 Batten disease recapitulates clinical phenotypes

Presented by: Vicki Swier Mosher / Weimer Lab

Abstract    Poster   Video

Email: vicki.swiermosher@sanfordhealth.org

 

A CLN6-CRMP2-KLC4 complex regulates anterograde, ER-derived vesicle trafficking in cortical neurites

Presented by: Hannah Lappert / Weimer Lab

Abstract  Poster  Video

Email: hannah.leppert@sanfordhealth.org

 

An automated real-time solution for genetic disorders detection and classification 

Presented by: Chris Kyriakidis

Abstract   Poster  Video

Email: chris@g-mendel.com

 

A-type lamins have perturbed targeting to nuclear ruptures in nuclear envelope-associated progerias

Presented by: Rhiannon Sears / Roux Lab

Abstract   Poster  Video

Email: rhiannon.sears@sanfordhealth.org

  

Developmental and functional deficits in cholesterol-deficient astrocytes

Presented by: Bethany Freel/ Francis Lab

Abstract   Poster  Video

Email: bethany.freel@sanfordhealth.org

 

Mutation of two central pair apparatus genes results in severe primary ciliary dyskinesia in mice

Presented by: Casey McKenzie / Lee Lab

Abstract   Poster  Video

Email: casey.mckenzie@sanfordhealth.org

 

In-vivo interactor and pathway analysis of CLN3, CLN6, and CLN8 using proximal biotinylation

Presented by: Emily Weatherill / Weimer Lab

Abstract   Poster  Video

Email: emily.weatherill@sanfordhealth.org

 

Analysis of the subcellular localization of neurodevelopmental disease-associated proteins using Breasi CRISPR

Presented by: Claire Kittock / Pilaz Lab

Abstract   Poster  Video

Email: claire.kittock@sanfordhealth.org

 

WDR45 function and contribution to BPAN

Presented by: Brandon Meyerink / Weimer Lab

Abstract   Poster  Video

Email: Brandon.meyerink@sanfordhealth.org

 

Investigating the Roles of CLN3/6/8 In Vesicular Transport

Presented by: Mitchell Rechtzigel / Roux and Weimer Lab,

Abstract    Poster    Video

Email: mitchell.rechtzigel@sanfordhealth.org

 

Uncovering stem cell signaling pathways disrupted in Tønne- Kalscheuer Syndrome

Presented by: Francisco Bustos, PhD

Abstract   Poster  Video

Email:francisco.bustos@sanfordhealth.org

 

A preclinical study on a murine model associated with LMS

Presented by: Haydee Torres / Tao Lab

Abstract  Poster  Video

Email: haydee.torres@sanfordhealth.org

 

Longitudinal characterization of the CLN3Δ7/8 miniswine model shows robust cellular pathology and behavioral deficits

Presented by: Kelsey Schecher / Weimer Lab

Abstract   Poster  Video

Email: kelsey.schecher@sanfordhealth.org