CONFERENCES
2024 Conference Award Recipients
CONFERENCES
2024 Conference Award Recipients
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2024 Jain Foundation Dysferlin Conference Award Recipients
During the 2024 Dysferlin Conference in Houston, 18 award recipients and 3 Poster winners were honored for their work. Learn more about these individuals and be inspired by their stories.
Volker Straub’s leadership of the Clinical Outcome Study (COS) for dysferlinopathy has helped ensure the success, of this 10+ year, 22 site, global natural history study for dysferlinopathy. COS has dramatically improved our understanding of dysferlinopathy, has so far resulted in 14 publications and has been influential in clinical trial designs for dysferlinopathy and even other LGMDs.
Matthew Wicklund is an unwavering advocate for his patients, and often goes the extra mile to help them, particularly during the difficult diagnostic process. He has helped other physicians shorten the diagnostic odyssey for their patients by introducing them to ALDA (Automated LGMD Diagnostic Assistant, developed by the JF), and collaborated with researchers to help clarify the meaning of genetic changes in dysferlin. Dr. Wicklund embodies what clinical excellence looks like, making a positive impact on the lives of patients and elevating his colleague’s ability to do the same.
Jordi Diaz-Manera has been pivotal in advancing MRI as a diagnostic tool for dysferlinopathy. His work assessing a huge variety of muscles overtime has created an atlas of muscle involvement in dysferlinopathy that revealed a specific signature of muscle involvement that not only can be used to distinguish between different types of LGMD, but also may allow us to improve the care of patients by predicting their needs based on which muscles are changing.
Madhuri Hegde has been instrumental in improving diagnostic access and clarifying pathogenicity for thousands of people with neuromuscular conditions. She played a crucial role in implementing the free genetic testing program led by the Jain Foundation from 2014-2017, conducting free genetic testing on 4,000 neuromuscular patients. Her work changed the diagnostic landscape for dysferlinopathy resulting in many more people being genetically diagnosed and improving our knowledge of the disease.
Meredith James focused her PhD on dysferlinopathy and led the development of the North Star Assessment for Limb Girdle type muscular dystrophies (NSAD). This is a clinical assessment customized for dysferlinopathy developed from Clinical Outcome Study for Dysferlinopathy (COS). The NSAD has proven to be a more sensitive clinical assessment than other methods allowing for more effective clinical trial designs. The NSAD is now being used to assess other LGMD subtypes. Meredith has an inspiring clinical presence, seeing the whole person before her and enabling her to establish a connection with them. Meredith also trains other physical therapists, ensuring that the latest advancements in care are having maximum impact.
Eduard Gallardo and his colleagues developed an assay to measure dysferlin protein levels through monocyte analysis from a fresh blood sample. This innovation has clarified diagnoses for hundreds of patients suspected of having dysferlinopathy and offers a less invasive alternative to muscle biopsies. Despite being developed 15 years ago; the dysferlin monocyte assay remains vital in Jain Foundation diagnostic research in the US and India. Dr. Gallardo continues to support the dysferlinopathy community by offering to run the assay whenever it is needed.
Alastair Khodabukus was instrumental in developing techniques for growing functional myobundles from iPS cells, and for characterizing and investigating several phenotypic abnormalities in dysferlin-deficient myobundles, involving calcium handling, cholesterol homeostasis, and metabolism. His work has yielded new insights into the function of dysferlin and identified potential treatment approaches.
Stacey Keenan’s work has led to the identification and characterization of the extensive changes in lipid composition, storage, metabolism, and regulation that occur in muscle as a result of dysferlin deficiency. This work has shown the lipid abnormalities to be a distinctive key feature of dysferlinopathy, rather than a nonspecific downstream effect, raising potential therapeutic targets.
Chiara Nicoletti has played a leading role in data analysis in an ambitious undertaking involving three research groups to characterize single cell- and single nucleus gene expression in dysferlin deficient muscle. It has been known that in dysferlin deficiency there are large numbers of inflammatory infiltrates, but characterizing the cells, what genes they are expressing, and how they interact with each other is challenging. Chiara’s work in analyzing this large data set has been instrumental in increasing our understanding.
Isabelle Richard had the foresight to cross the naturally occurring dysferlin mutation discovered in the A/J mouse line at Jax with the commonly used C57Bl6J control strain. The result is the “BlaJ” line of dysferlin deficient mice, which Isabelle generously donated to the Jackson labs public repository, making it accessible to all dysferlin researchers. Since then, the Jain Foundation has maintained a private colony of BlaJ mice at Jax ensuring live mice are available at useful ages supporting both our projects and other researchers interested in dysferlinopathy. The generous act of Dr. Richard removed a major barrier to new researchers entering the dysferlin field and expanded the breadth of studies that have been pursued. Creating the BlaJ mouse line and donating it to Jax has benefited over 20 research labs and saved ~30 years of researcher time that would otherwise have been spent establishing their own mouse colonies—if they had entered the field at all.
Heather Hilsden is the project manager for the Jain Foundation’s Clinical Outcome Study for dysferlinopathy and has the monumental task of coordinating activities across 21 International clinical centers. Heather does an amazing job of coordinating these centers’ activities. She has consistently recognized and pursued new opportunities to engage clinical partners who can help in Jain Foundation’s mission. We are grateful for Heather’s dedication and her keen understanding of the field’s needs. Her efforts to connect new researchers and clinicians have been invaluable in accelerating the development of a treatment for dysferlinopathy.
Miranda Grounds’ extensive knowledge of muscle and muscular dystrophy and her innate curiosity have been a benefit to the dysferlin field for many years. Miranda has been a tireless advocate for new areas of dysferlin research, often suggesting new projects and research directions to experts in other fields. Her reputation and extensive network of contacts has helped expand our view of dysferlin’s function and the consequences of its absence. We are thankful for her unwavering interest in dysferlin and for promoting important research findings and questions from the dysferlin research community to other disciplines that can help our cause.
R. Bryan Sutton has worked tirelessly to determine the structure of the dysferlin protein, initially through the crystallization of its C2 domains. More recently, he has utilized advancements in modeling to deepen our understanding of dysferlin’s structure and function. Bryan’s knack for relating specific structural features to protein functions has provided important insights into dysferlin’s role in cells, significantly advancing our mission.
Pascal Bernatchez found an unexpected link between dysferlin and cholesterol metabolism, initially was revealed by crossing ApoE and dysferlin null mice, which resulted in a severe muscle phenotype. Since then, Pascal and his team have worked to understand the relationship between dysferlin and cholesterol metabolism and have helped establish this important area of dysferlin research.
Robert Bloch and his colleagues have led the discovery that dysferlin is a crucial protein in the T-tubule network and plays a role in calcium handling in muscle. In the absence of dysferlin, changes in calcium transients, particularly following injury, likely suppress normal calcium release for contraction and results in calcium waves that can be detrimental to muscle cells. These findings have shifted our understanding of dysferlinopathy and the types of interventions that might be relevant.
The Enduring Dedication Award goes to conference attendees who have participated in all eight Dysferlin Conferences hosted by the Jain Foundation from 2007 to 2024. We thank the following researchers for their commitment and passion in advancing the field of dysferlinopathy. And, we look forward to your continued involvement and the invaluable insights you bring to our conferences.
Bradley Williams is a self-taught expert in dysferlinopathy with a long history of involvement in the field. After his diagnosis in 2001, he created the first website dedicated to dysferlin deficiency. He has been working with the Jain Foundation since its inception in 2005, first as an advisor and then a full-time employee starting in 2015. His current role at JF is Director of Research and Diagnostic Innovation.
Mohan Viswanathan is a Research Scientist in the laboratory of Dr. Leonard Guarente at MIT. He has collaborated with JF on dysferlin for many years, first at Cambria where he performed a high throughput drug screen in a C. elegans ferlin mutant and since then at MIT. His current JF project is a drug study to determine if the clinically approved drug sodium 4-phenybutryic acid (4-PBA) can ameliorate the dystrophic condition caused by the DYSF missense mutation L1360P in MMex38 animals.
Joshua Zimmerberg is a Senior Investigator in the Section on Integrative Biophysics at the NIH. He has worked with the Jain Foundation on and off for many years, with much of his dysferlin related work focused on understanding the changes that happen to the muscle membrane when dysferlin is absent and how to modify the membrane to improve membrane repair.
Mary Lorena Vallecillo
Poster Title: 6-months treatment with Galectin-1 favorably alters functional, histological, and biochemical markers in Limb Girdle Muscular Dystrophy R2
Dounia Bouragba
Poster Title: Human Muscle Cells Secretome in Dysferlinopathy
Prech Brian Uapinyoying
Poster Title: Generating a spatial RNA-seq atlas for Dysferlin deficient mouse muscle