CONFERENCES

Webinars and Meetings

CONFERENCES

Webinars and Meetings

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Webinars and Meetings

Due to the COVID-19 pandemic and safety issues related to holding in person meetings, we are instead organizing a series of webinars on specific topics.  The goal is to promote continued communication within the dysferlin research community so that scientists can stay current with the latest advances. Topics that we intend to cover include areas of research where we are seeing movement or breakthroughs that will help advance the field.

If you would like to view a recording of any of the webinars, please email us at admin@jain-foundation.org.

Upcoming Webinars and Meetings

From Bedside to Bench—Insights from Clinical Studies for Dysferlin Research
December 15, 2022 – 11:00 AM – 1:30 PM EST (1600 UTC).
Register here

The typical paradigm is that new technologies in medicine transition from the laboratory (Bench) through several steps towards eventual use to treat patients (Bedside).  But clinical and genetic studies have a lot to teach us about dysferlinopathy and can inform research projects looking for new treatments.  In this webinar, we highlight some of the findings of recent clinical studies, in particular the Clinical Outcome Study in Dysferlinopathy (COS), as well as large-scale sequencing initiatives that document the spectrum of mutations of the DYSF gene and carry implications about the role of the dysferlin protein in muscle biology.

Presentations 

Clinical background on dysferlinopathy – Ursula Moore, Newcastle University

COS – Implications for Clinical Trial design and disease management – Meredith James, Newcastle University 

DYSF Mutation spectrum and variant pathomechanisms – Laura Rufibach, Jain Foundation 

Development of a therapeutic discovery platform for Dysferlinopathy patients harboring missense mutations – Mohan Viswanathan, MIT 

Availability of clinical samples and data from COS – Heather Hilsden, Newcastle University 

REGISTER
Future Webinars

TBD

Previous Webinars and Meetings

Presentations 

Regula Furrer, University of Basel, “Involvement of metabolic remodeling in the development of dysferlinopathies”.

Alistair Khodabukus, Duke University, “The role of dysferlin in regulating lipid accumulation and mitochondrial function in engineered human skeletal muscle tissues”.

Julio Cárdenas, Universidad Mayor, Chile, “Ketosis Ameliorates Dysferlinopathy Phenotype in Bla/J Mice by Promoting Mitochondrial Function”.

Pascal Bernatchez, University of British Columbia, “Whole-body metabolic abnormalities in Dysferlinopathies: causes of muscle wasting or bystanders?”

Webinar Overview

10:00     Introduction

10:05     Dysferlin hypomorph mice: how much dysferlin is needed to rescue phenotype?
               Joe Yasa, University of Sydney 

10:30     Update on what new computational tools have taught us about ferlin structures and homologies
               R. Bryan Sutton, Texas Tech Health Sciences

10:55     The balance beam: a useful functional readout for dysferlin-deficient mice
                Regula Furrer, University of Basel

11:10     Galectin-1 as a prospective therapeutic for dysferlinopathy: in vitro and in vivo studies, and mechanisms of action
               Pam Van Ry, Brigham Young University

11:35     Creating a Single Cell Atlas to Map Pathogenesis in Dysferlinopathy
               Marshall Hogarth and Brian Uapinyoying, Children’s National Medical Center, and
Chiara Nicoletti, Sanford Burnham Prebys Medical Discovery Institute

Webinar Overview

Wednesday, July 21

11:00 AM Introduction (Jain Foundation)

11:05 AM R. Bryan Sutton, Texas Tech University: “Redefining the Architecture of Dysferlin and its Implications in LGMD2B”

11:30 AM Colin Johnson and Joseph Baio, Oregon State University: “Combining NMR and nonlinear spectroscopy to get a molecular level view of dysferlin bound to lipids”

12:00 PM Brad Williams for Kevin Sonnemann, University of Wisconsin, “Evidence for Dysferlin Dimerization”

12:30 PM Discussion

Thursday, July 22

11:00 AM Introduction (Jain Foundation)

11:05 AM Peter Fridy, Rockefeller University: “Nanobodies as Proteomic Tools for Dysferlin”

11:30 AM Dennis G. Drescher, Marian J. Drescher; Wayne State University : “Dysferlin protein-protein interactions with presumptive repair proteins”

12:00 PM Lance Stewart, University of Washington: “Dysferlin Structure Prediction by RoseTTA”

12:30 PM Discussion

Webinar Overview

Wednesday, April 21

10:00 AM Introduction (Jain Foundation)

10:05 AM Miranda Grounds, University of Western Australia; Erin Lloyd, University of Western Australia; Robyn Murphy, Latrobe University: “Functional and Molecular parameters related to Ca handling, show different impact of dysferlin-deficiency on slow and fast muscles of BLAJ mice aged 10 months”

10:55 AM Nenad Bursac, Duke University: “Human myobundles: a novel platform to study dysferlinopathy mechanisms and treatment”

11:25 AM Discussion

Thursday, April 22

10:00 AM Introduction (Jain Foundation)

10:05 AM Bradley Launikonis, University of Queensland: “Ryanodine receptor leak and Ca2+ redistribution in dysferlinopathy”

10:45 AM Robert Bloch, University of Maryland: “Dysferlin Stabilizes Calcium Release at the Triad Junction”

11:15 AM Discussion

Webinar Overview

Session 1: Lipid accumulation and Fat replacement in vitro and in vivo

7:00 AM – 9:00 AM PDT (1400—1600 UTC) Tuesday, June 29, 2020

7:00 Jain Foundation–Session Introduction

7:10 Matthew Watt—University of Melbourne, Dysferlin Deficiency Alters Lipid Metabolism and Remodels the Skeletal Muscle Lipidome in Mice 

7:35 Alastair Khodabukus/Nenad Bursac—Duke University, A novel 3D tissue-engineered human iPSC model of dysferlin-deficient skeletal muscle – studies of contractile function and lipid response

7:50 Anil Agarwal–UT Southwestern, Insights into Lipid Accumulation in Skeletal Muscle

8:05 Pierre Carlier—Institute of Myology, Quantitative NMR Imaging Biomarkers for Disease Progression and Disease Activity in Skeletal Muscle of Dysferlinopathy Patients: Fat Fraction and Water T2

8:20 Questions and Discussion

Tuesday, June 30, 2020: Pathways: FAPs, Cholesterol, and Metabolism

7:00 Jain Foundation–Session Introduction

7:10 Jyoti Jaiswal–George Washington University and Children’s Research Institute, Misdirected Fate of a Multipotent Stem Cell Drives Disease Progress in LGMD2B

7:35 Lorenzo Puri–Sanford Burnham Prebys Medical Discovery Institute, Investigation of the Role of Fibro/Adipogenic Progenitors and the Effect of HDAC Inhibitors in Dysferlinopathy

7:50 Pascal Bernatchez—University of British Columbia, Is Muscle Wasting in Dysferlinopathies the Result of Whole-Body Lipoprotein Abnormalities? Lessons from Duchenne Muscular Dystrophy

8:15 Questions and Discussion

Webinar Overview