Jain Foundation Inc

One of the ways The Jain Foundation seeks to fulfil its mission is to foster global collaborations and disseminate scientific information among scientists, clinicians, industry partners, and community members. The 2024 Dysferlin Conference, hosted by the Jain Foundation in May 2024, provided a platform for participants to engage in open discussion and share their key scientific insights. The foundation's scientific team has compiled a series of summaries from the research presented at the conference, and we are excited to share them on our website. We hope this initiative will accelerate the pace of discovery and lead to the identification of treatments for dysferlinopathy. Please visit https://lnkd.in/dBcrVSsK

We are pleased to continue honoring the Award recipients from the 2024 Dysferlin Conference. This time the winners of the Research Contribution Award are featured. Our Co-president, Doug Albrecht, presented the Research Contribution awards to Dr. R. Bryan Sutton, Dr. Pascal Bernatchez and Dr. Robert Bloch. Dr. 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.   Dr. 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. Dr. 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 category is for conference attendees who have participated in all eight of the Dysferlin Conferences hosted by the Jain Foundation since 2007. The award winners are Bradley Williams, Mohan Viswanathan and Joshua Zimmerberg. 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 as a 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. We thank you for your commitment and passion for advancing the field of dysferlinopathy. We look forward to your continued involvement and the invaluable insights you bring to our conferences.

We are proud to highlight recipients of the Leadership in Collaboration Award category from the 2024 Dysferlin Conference. These recipients have advanced dysferlin research at an amazing pace. Our Co-President, Doug Albrecht, presented these awards to Dr. Isabelle Richard, Heather Hilsden and Dr. Miranda Grounds. 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.

We congratulate the winners of the Young Investigators Awards from the 2024 Dysferlin Conference.   Alastair Khodabukus, Ph.D.,laboratory of Prof. Nenad Bursac, Duke University—Ali 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 Nicole Keenan, Ph.D., laboratory of Prof. Matthew Watt, University of Melbourne—Stacey’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, Ph.D., laboratory of Prof. Lorenzo Puri, Sanford Burnham Prebys Medical Discovery Institute—Chiara 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.

Continuing our series of honoring the award winners from the 2024 Dysferlin Conference, this post highlights the recipients of the Extraordinary Impact award. We presented this award to Drs Hegde, James and Gallardo. Dr 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. Dr. 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. Let's honor their efforts and be inspired by their stories! #LGMD2B, #LGMD, #dysferlinopathy, #Miyoshi, #dysferlin 

This week, we are thrilled to kick off a series of posts featuring the remarkable award winners from our 2024 Dysferlin Conference. These individuals have made significant contributions to our mission of developing treatments for dysferlinopathy by showcasing innovation, dedication, and excellence. We presented the Award for “Excellence in Clinical Studies” to Drs. Straub, Wicklund and Manera.   Volker Straub 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.   Stay tuned as we celebrate the achievements and share insights into the groundbreaking work of all the awardees over the next few weeks. Let's honor their efforts and be inspired by their stories! #LGMD2B, #LGMD, #dysferlinopathy, #Miyoshi, #dysferlin  https://lnkd.in/gVykfVqr

Our 2024 Dysferlin Conference, which ended Saturday 5/11, was  a big success. From captivating presentations to thought provoking discussions, every moment was filled with learning, lively discussions, and collaboration. The scientific posters showcased innovative ideas that pushed the boundaries of research. We had a fun filled Gala night at the Houston Museum of Natural Science that started with a cocktail hour in the Morian Hall of Paleontology and ended with an award ceremony. The ceremony recognized 18 people in the dysferlin research community for their contributions to the field of dysferlinopathy. Stay tuned as we prepare to share key takeaways and insights from the conference with our community. Thank you to our industry partners, clinicians, and researchers for their invaluable contributions. Until then, enjoy some snapshots from the conference.

Yesterday, we kicked off our 2024 Dysferlin Conference. We spent the morning hearing engaging presentations centered around more than a decade’s worth of data from the International Clinical Outcome Studies for Dysferlinopathy. Discussions were focused on the best strategies to meaningfully analyze this extensive data set, with the aim of providing insights to drive effective clinical trials. The subsequent session explored diverse novel topics, including culturing  human muscle tissues, understanding the 3D structure of Dysferlin proteins, and determining potential targets for disease intervention by generating a single cell atlas of dysferlin pathogenesis. The evening ended with a warm reception, offering attendees the opportunity to network and engage with colleagues. Enjoy some snapshots from the event. Second day sessions start with discussions on genetic therapies presented by our industry partners and researchers.

The Jain Foundation team is excited to announce the kick-off of the 2024 Dysferlin Conference in Houston from May 8-11. Our meeting will bring together scientists, clinicians, and industry partners from around the world to share their work and discuss the development of therapies for dysferlinopathy. Here is a peek at our conference booklet which will be given to meeting attendees. Crafted meticulously by our team, we are excited to offer this resource filled with insights and information tailored to elevate the knowledge base of our scientific community. As this meeting is by invitation only, we'll  keep  the greater community informed with regular updates, highlights, and key insights from the event as it unfolds. Stay tuned for glimpses into the discussions and discoveries taking place in Houston.