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Writer's pictureSaeed Anwar Anuj

Attending the Inaugural Breakthroughs in Muscular Dystrophy Conference

Updated: 4 days ago

Last week, I attended the Breakthroughs in Muscular Dystrophies Conference, a brand-new event jointly organized by the American Society of Gene and Cell Therapy (ASGCT) and the Muscular Dystrophy Association (MDA). Held in Chicago, this conference brought together leading researchers, clinicians, and industry experts to focus exclusively on the latest advances in therapeutics for muscular dystrophy.


Initially, I hadn’t planned to attend the conference. After participating in the ASGCT Annual Meeting in Baltimore earlier this year, I thought the content might overlap, perhaps with a very targeted focus. However, upon reviewing the agenda more closely later, I realized just how unique and impactful this event was shaping up to be.


The lineup of speakers read like a who’s-who of muscular dystrophy research. Dr. Louis Kunkel, recognized for his discovery of dystrophin, alongside Dr. Carsten Bönnemann, a key figure in translating gene therapy into clinical applications, was set to deliver the keynotes. Dr. Jeffrey Chamberlain, a pioneer in gene therapy and microdystrophin constructs, would present his recent innovations using split-intein technology. Dr. Barry Byrne, whose contributions to AAV-mediated delivery systems have been instrumental in shaping the field, was also on the agenda. I was equally excited to see Dr. Charles Gersbach, known for his work at the intersection of genome editing and exon skipping, as well as Dr. John Fraser Wright, whose expertise in vector immunology has provided critical insights into AAV-based therapies. Adding a personal touch, my own supervisor, Dr. Toshifumi Yokota, was among the speakers. His work on antisense oligonucleotide therapies closely aligns with my research, making his session a highlight to look forward to. Such an exciting list of names, right? I was excited about the chance to hear directly from researchers at the forefront of gene therapy, oligonucleotide-based approaches, and emerging delivery systems—areas that closely relate to my own work. The chance to engage with a diverse group of scientists, ranging from undergraduates to senior industry leaders, further fueled my enthusiasm.


What captured my interest was the conference's focused nature. This event specialized exclusively in muscular dystrophies, creating a unique opportunity for knowledge sharing and networking among like-minded people. Little did I know that this decision would lead to one of the most memorable conference experiences of my career—filled with scientific discoveries, valuable interactions, and even a surprise poster award!


Before I dive into the details of the event itself, let me first recount my journey to Chicago, which was anything but smooth and turned out to be an adventure in itself.

 

The Journey to Chicago

My journey to Chicago was nothing short of a whirlwind. It began with a busy morning at the lab in Edmonton, where I had several tasks to complete before heading to the airport. I also had my poster to pick up from the university printing store. It was a bit hectic, but I somehow managed to finish everything and rushed home to get ready for my early afternoon flight. I realized I wouldn’t have time for a proper lunch, so I grabbed a banana, hoping it would suffice until I reached my destination. Little did I know that this small detail would set the tone for an eventful day. Despite the rush, I arrived at the airport thinking I had ample time—or so I seemed.


The first hiccup occurred at the boarding gate in Edmonton. Due to limited cabin space, the airline staff informed me that my carry-on luggage would need to be checked at the gate. Initially, this seemed like a minor inconvenience, so I handed over my bag without much thought. However, as I walked down the boarding bridge, I suddenly realized that my poster was in that bag. If something happened to it, I wouldn’t be able to present my work at the conference. Acting on instinct, I turned back and requested the airline staff to allow me to retrieve some stuff from my luggage. I quickly took out the poster and tucked it into my laptop bag. In my haste, however, I forgot to grab my phone and laptop chargers—a decision I would come to regret later in the day.


The first leg of the flight, from Edmonton to Denver, started smoothly. But as we neared Denver, the turbulence began. The descent was particularly rough, with strong gusts tossing the plane. It was one of those flights where you feel every bump and dip, leaving passengers gripping their armrests. While it wasn’t the scariest flight I’ve ever experienced—nothing compares to flying during the December 2022 North American winter storm—it was enough to leave me feeling slightly frazzled.


When we landed, the real chaos began. Denver International Airport was a mess. My connecting flight to Chicago was in a different terminal, which required taking an inter-terminal train. As I approached the station, I was met with utter chaos. The platform was packed with what felt like a thousand people, all jostling for a spot on the already overcrowded trains. I had never seen Dhaka Airport as busy as this! Each time a train arrived, only a handful of passengers could board, and the clock was ticking. Watching the minutes slip away, I grew increasingly anxious about missing my connection. Finally, after what felt like an eternity, I managed to squeeze onto a train and made it to my gate just in time. I was the second-to-last passenger to board, and my relief at making the flight was palpable.


Unfortunately, my relief was short-lived. After a 30-minute delay on the tarmac in Denver, we finally took off, arriving at Chicago O’Hare Airport well past midnight. Exhausted, I made my way to baggage claim, only to face another setback: my luggage hadn’t made it onto the flight. A quick online search confirmed my worst fears: my luggage was still in Denver. Frustrated and exhausted, I approached the airline's help desk to report the missing bag. The agent assured me that my luggage would be delivered to my hotel as soon as possible, but I couldn't shake the worry about how I would manage without it.


Looking at my phone, I saw I had only 27% battery left, and without any chargers on hand, I had no way to recharge. I switched to battery-saving mode and silently berated myself for not packing the chargers in my laptop bag when I retrieved my poster. As I left the airport and booked an Uber to my hotel, I hoped to find some food upon my arrival. I knew that Chicago doesn’t sleep, so I was eager to find something to satisfy my hunger. However, my strict dietary restrictions posed a challenge, and I struggled to find a restaurant that could accommodate my needs. In the end, I settled for a cookie from the hotel reception and a glass of water—a far cry from the hearty meal I had imagined.


By the time I finally collapsed into bed, it was well past 3:30 AM. Exhausted from the day’s events, I still knew that the excitement of the conference and the ‘novelty’ of the bed I was lying in would be enough to motivate me to get up in the morning. Little did I know, the rocky start to my trip was just the prelude to an incredibly enriching and memorable experience.

 

Day 1: A Scientific Marathon

As I said, despite the exhausting ordeal the night before, I woke up early in the morning. The excitement of finally being here and the anticipation of the day ahead were enough to shake off my fatigue. After a quick shower and a few deep breaths, I headed to the Westin, the conference venue, which was conveniently just a two-minute walk from my hotel.


The day started on a very positive note. The check-in process at the registration desk was smooth, and I was handed a neatly packaged conference kit, complete with a badge, a program schedule, and even a webcam cover—a small but thoughtful addition. Next, I made my way to the breakfast area. Having informed the organizers about my dietary restrictions in advance, I approached an attendant to inquire about my meal. To my delight, they brought out a desi-style paratha paired with an egg omelette cooked in olive oil. This far exceeded my expectations and was comforting—something I hadn’t anticipated for a conference breakfast. Paired with a jumbo-sized coffee, I felt nourished and energized, ready to dive into the day's scientific discussions.


The conference officially began with a keynote address by none other than Dr. Louis Kunkel, whose name is synonymous with the discovery of the dystrophin's gene product. His groundbreaking work in the 1980s not only revolutionized our understanding of Duchenne muscular dystrophy (DMD) but also paved the way for the development of modern genetic therapies. Dr. Kunkel’s talk was as inspiring as it was informative. He took us back 40 years, recounting the challenges and triumphs of identifying the DMD gene and its product, dystrophin. He shared anecdotes about his collaboration with so many, including then-PhD student Dr. Eric Hoffman, who played a crucial role in characterizing dystrophin as the protein product of the DMD locus. Listening to Dr. Kunkel’s story felt like witnessing history unfold. His passion and perseverance were palpable, deepening my appreciation for the foundations upon which current advancements are built.


Following Dr. Kunkel, Dr. Bönnemann delivered an equally engaging talk on the clinical aspects of gene therapies for muscular dystrophies. Dr. Bonnemann tried to bridge the gap between basic science and clinical application, highlighting the complexities involved in translating gene therapies into effective treatments for diverse patient populations. His emphasis on tailored therapeutic approaches resonated deeply with the audience, setting the stage for the day’s sessions.


After Dr. Bönnemann's talk, we had our first coffee break. I considered trying some tea to stay awake. As I turned toward the tea counter, I bumped into two familiar faces—Dr. Toshifumi Yokota and Dr. Rika Maruyama from our lab. They had been sitting just behind me during the keynote, but I was too engrossed in the presentation to notice them. They had a good selection of teas, so we each grabbed a cup—hibiscus for me and green tea for Dr. Maruyama—and caught up on our respective journeys to Chicago. It turned out I wasn't the only one who had faced a hectic flight; Dr. Maruyama shared that she had arrived late the previous night as well. It was comforting to exchange stories and find humor in our shared chaos.


The next session focused on non-viral gene delivery and featured presentations from Dr. Kenneth Sims of the Battelle Memorial Institute and Dr. Nicholas Whitehead from the University of Washington. Dr. Sims discussed strategies for enhancing the stability and targeting of non-viral delivery platforms, highlighting their potential as alternatives to AAV-based systems. However, it was Dr. Whitehead’s presentation that truly captivated me. He talked about a targeted, non-viral platform designed to deliver the full-length dystrophin gene, which is particularly impressive given the gene's large size. What stood out most was his perspective on dystrophin's role; instead of presenting it solely as a structural protein, he described dystrophin as a signaling molecule. This fresh viewpoint opens up new avenues for understanding its broader biological implications. While his platform combines antibodies, albumin, and cationic peptides and seems innovative, I do have concerns about potential adverse effects. Dr. Whitehead addressed these concerns and assured the audience that they are rigorously evaluating the platform's safety.


After Dr. Whitehead's talk, we headed out for lunch. Lunch provided another pleasant surprise—a mildly spiced khichuri paired with an egg omelette. It felt like a continuation of breakfast, and I appreciated the effort made to accommodate my dietary restrictions. Unlike at many other events, they didn't apologize or simply offer me a plate of salt-free salad. The highlight of lunch was a small act of kindness: Dr. Yokota lent me a USB-C cable to charge my phone. These little gestures of generosity truly set people apart from others.


Post-lunch, I took a brief stroll through the exhibition area, where various biotech companies had set up stalls to showcase their latest developments. There were innovations ranging from exon-skipping therapies to microdystrophin constructs, as well as tools aimed at advancing preclinical research. I also came across some cutting-edge tools designed to aid muscular dystrophy research.


The afternoon sessions began with Dr. Oluwatayo Ikotun (UCLA), who delivered an engaging talk on the use of PET imaging techniques to monitor the success of viral gene therapies. She highlighted the importance of non-invasive methods for assessing therapeutic efficacy, which is particularly relevant given the difficulties in tracking outcomes during clinical trials. Following her talk, Dr. Jeffrey Chamberlain took the stage to discuss his team’s work on split inteins for delivering full-length dystrophin genes. His presentation provided a comprehensive overview of their progress, detailing how they developed smaller versions of dystrophin over the years, culminating in the creation of microdystrophin in the late 1980s and 1990s. Currently, his research team at the University of Washington is focused on delivering mididystrophin or full-length dystrophin genes using split intein technology.


One of the most intriguing talks of the day was delivered by Dr. Samuel Pfaff from the Salk Institute, who introduced a novel RNA end-joining (REJ) method for gene therapy. Although this technique is still in its early stages, I felt it holds the potential to overcome the size limitations of current delivery platforms, especially for large genes like dystrophin and possibly dysferlin. Concluding the session was Dr. Charles Gersbach (Duke University), who discussed genome editing to enhance the efficiency of exon skipping. While his presentation was engaging, I found myself wishing for more details regarding the precision of editing splice sites, which is a critical factor in achieving therapeutic success.


In the late afternoon, the oral abstract session began, featuring presentations from several academics and representatives from biotech companies discussing their work on therapeutics for muscular dystrophy. Dr. Thomsen from Insmed Inc. presented research on intrathecally delivered AAV9-mediated Micro-Dystrophin as a potential therapy for Duchenne. While the presentation was interesting, I think I was a bit concerned about the intrathecal injection route. Later, Dr. Dastgir from REGENXBIO shared interim data from their clinical trial on AAV8-mediated microdystrophin gene therapy, which appeared quite promising. Other presenters also discussed their ongoing research, and their projects seemed encouraging as well. The final presentation was by the renowned Dr. Eric Hoffman. Interestingly, his talk did not focus directly on the science of treating muscular dystrophies. Instead, he discussed the Venture Philanthropy Model of Drug Development, highlighting the importance of collaboration with non-profit foundations and governments from concept to drug approval. He shared valuable lessons learned from the Vamorolone clinical trial, which has recently received approval from both the European Medicines Agency (EMA) and the Food and Drug Administration (FDA).


The day concluded with the highly anticipated poster session, showcasing a wide variety of works. My poster, which focused on enhancing the efficacy of antisense oligonucleotides with small molecule enhancers, attracted significant attention. I had previously presented an earlier version of this research at the ASGCT meeting earlier this year. This time, I expanded the work to include additional disease models and multiple oligonucleotide platforms. As I explained the versatility of the small molecules I was studying, I found that many attendees appreciated the potential of this approach.

 

Despite the large number of visitors at my poster, I managed to take a few moments to explore the other presentations. Most of the works were centered on AAV-mediated gene therapy and gene editing approaches, with some focusing on oligonucleotides/microRNAs and small molecules, spanning both basic and clinical developmental stages. I was particularly intrigued by the work on prime editing from Dr. Jack Tremblay and Dr. Ronald Cohn’s groups in Canada. Perhaps I was slightly biased since I had traveled from Canada, but their innovative approaches to gene editing were genuinely impressive.


So, a long day ended. Exhausted yet fulfilled, I walked back to my hotel after the poster session, reflecting on the highlights of the day. After a quick shower and change of clothes, I took some light food that I had already ordered before venturing out for a brief walk around downtown Chicago. The crisp evening air was refreshing, but fatigue soon caught up with me, prompting me to return to my room to rest. The first day of the conference had been a whirlwind of science, connections, and inspiration—a perfect reminder of why I love what I do.

 

Day 2: Building on Momentum

The second day of the conference began with a sense of relief. Early in the morning (at 6:30ish!), I received a text followed by a call from the airline informing me that my luggage was finally on its way. After the chaos of the first day, this small victory made me feel ready to tackle another packed schedule of learning and networking. My luggage arrived shortly afterward, bringing with it a fresh set of clothes and a renewed sense of preparedness.


With my luggage sorted, I headed to Westin for breakfast. As I had done the previous day, I informed the attendants of my dietary restrictions, and they once again brought me a plate with desi-style paratha and an egg omelette cooked in olive oil. While I appreciated their effort to accommodate me, I couldn’t help but smile at the repetition—it seemed they had found a formula that worked and decided to stick with it! I often do the same when conducting bench experiments, so I can’t help but appreciate it! After breakfast, I grabbed a large coffee and made my way to the first session of the day, eager to absorb more cutting-edge science.


The morning began with a presentation by my supervisor, Dr. Toshifumi Yokota. His talk focused on using DG9-conjugated morpholinos to target exon 44 in models of Duchenne. One key point that resonated with many attendees was his emphasis on achieving strong efficacy in the heart, which poses a significant challenge in current oligonucleotide-based therapies. Following Dr. Yokota's presentation, Dr. Lindsay Wallace from Nationwide Children’s Hospital shared her work on microRNA therapies for facioscapulohumeral muscular dystrophy (FSHD) and Charcot-Marie-Tooth disease. Her work highlighted the potential of microRNA-based approaches to target disease-specific pathways. Next, Dr. Isabelle Aurélie Goyenvalle from the University of Versailles delivered an engaging talk on tricyclo DNA oligonucleotides for DMD. These oligonucleotides, which offer enhanced stability and efficacy, represent an exciting advancement in oligonucleotide therapeutics.

 

After her presentation, we had a coffee break, during which I took the opportunity to explore the lobby and engage in conversations with other researchers as well as representatives from various biotech companies and non-profits. Many discussions focused on alternative delivery systems, like lipid nanoparticles (LNPs) and peptide-conjugated oligonucleotides, which closely align with my research interests. It was refreshing to witness a growing interest in non-viral approaches to gene therapy, indicating a shift toward diversifying therapeutic strategies beyond AAV-based delivery systems.


The highlight of the day was the final session, a panel discussion titled “The Future of Genetic Therapies for Muscular Dystrophies.” Moderated by Dr. Sharon Hesterlee, MDA’s Chief Research Officer, the panel featured an impressive lineup of experts: Dr. Chamberlain, Dr. Bönnemann, Dr. Byrne, Dr. Melissa Spencer, and Dr. Katherine High, a prominent scientist in the gene therapy field who conducts both basic research and clinical investigations. The discussion focused on the challenges and opportunities in advancing genetic therapies, particularly AAV-mediated approaches. The panelists shared their insights on overcoming delivery bottlenecks, managing immune responses, and scaling up production to meet clinical demands. Dr. Kunkel made a particularly thought-provoking statement, emphasizing the need for therapies that do more than just halt disease progression; they should actively repair and regenerate damaged muscles. He suggested that cell-based therapies could be pivotal in achieving this goal. Additionally, the conversation addressed the ongoing challenge of redosing AAV therapies, which poses a major barrier to their long-term effectiveness. The panelists concurred that finding solutions to immune tolerance and redosing will be crucial for the future of gene therapy.


Just before the conference concluded, I received some unexpected news: I had won a poster award! This marks my second poster award this year; earlier, I won another at the ASGCT annual meeting. The recognition was both surprising and deeply gratifying, especially considering the high quality of the posters presented. I believe my work stood out among the many submissions on gene therapy and gene editing, perhaps because it provided a 'little rare' oligonucleotide-vibe in a predominantly viral-centric showcase. This recognition felt like validation for my efforts and added a personal highlight to an already memorable event.


As the conference came to a close, I took a moment to reflect on the past two days. The event exceeded my expectations in every way— from the quality of the presentations to the meaningful conversations I had with fellow researchers. Here are a few key takeaways that stood out:

  1. Delivery is the Bottleneck! Efficient delivery systems remain the most significant challenge in gene therapy. While adeno-associated virus (AAV) continues to lead the field, there is an urgent need to explore alternatives like lipid nanoparticles (LNPs), virus-like particles (VLPs), and exosomes.

  2. Oligonucleotide-based approaches are gaining momentum as viable non-viral alternatives, especially for diseases where viral delivery poses limitations.

  3. The conference highlighted the importance of partnerships between academia, industry, and patient advocacy groups in driving therapeutic innovation.

  4. The discussions emphasized the need not only to stop disease progression but also to restore muscle function and address immune challenges to enable repeated treatments.

 

Wrapping Up

As I left the conference venue and headed back to my hotel, I had the pleasure of meeting Dr. Yusef Casewit from the University of Chicago. He kindly accompanied me to my hotel, and we chatted briefly about our work. Making his acquaintance was a true delight. Once back at the hotel, I felt a renewed sense of purpose and excitement about my research. Winning the poster award was a personal highlight, but what was even more meaningful were the ideas, insights, and connections I gained over the course of the conference.


As I sit on a stationary B737 in the O’Hare, now over an hour and forty minutes delayed, I find myself reflecting on the incredible experience of the past two days. The inaugural Breakthroughs in Muscular Dystrophies Conference was no short of what I hoped it would be and more. I am optimistic that this event will grow in size and scope in the coming years—it deserves to be at least a three-day event! Beyond the knowledge gained, some conversations and presentations even sparked ideas for where I might take my postdoc research, adding an extra layer of excitement to the experience. I leave Chicago feeling energized and motivated, equipped with new ideas to explore, potential collaborations to pursue, and a revitalized sense of purpose in my research. Overall, it was an amazing, adventurous, and eventful trip—one that reaffirmed my passion for muscular dystrophy studies and my commitment to this impactful field.




20 November 2024
Saeed Anwar
Edmonton, Canada
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