Cure ADSSL1 was established by Priyanka Kakkar and Naveen Baweja when both their children were diagnosed with an ultra-rare neuromuscular disease called ADSSL1 Myopathy. Cure ADSSL1 is a parent-run non-profit foundation with the mission to find a cure for ADSSL1 Myopathy. The impact of this disease on the patients is debilitating with loss of mobility in arms and legs, reduced function of heart, lungs, and swallowing muscles. Impact on patients includes decreased ability to perform activities of daily living and maintain functional independence. We are working with leading researchers and supporting research for two potential therapeutic options for ADSSL1 Myopathy: 1) Drug Repurposing 2) Gene Replacement Therapy
Cure ADSSL1的外部链接
1929 Calle Dulce
US，CA，Glendale，91208
This is exciting Dongsheng Guo!
I will be attending the MDA conference virtually from March 16-19, 2025, and presenting a virtual poster on my project "ADSS1 Myopathy iPSC Modeling for Therapeutic Development (Poster No. V416)". If you’d like to discuss it further, let’s stay in touch. https://lnkd.in/egtgKy7H #ADSS1Myopathy #MDA #iPSC #Raredisease
Celebrating an Inspiring Woman in Rare Disease Research! On this International Women’s Day, I want to take a moment to recognize Dr. Emma Rybalka, a brilliant scientist and advocate whose dedication to the rare disease community is truly inspiring. Emma, your passion to make a difference in ADSS1 myopathy research continue to fuel hope for families like ours. Our patient community is beyond grateful for your commitment to science, your compassionate heart, and your relentless drive to change lives. Thank you for everything you do!
I’m excited to share the first-ever?People of VU podcast series?— an?International Women’s Day special?— shining a light on the stories of five exceptional women from our VU community. I will be releasing the rest of the podcasts over the coming weeks. To kick things off, I am delighted to introduce?Professor Emma Rybalka?who is my?guest for the first episode. Emma’s journey at?Victoria University?began as a student 23 years ago, and since then, her career has been nothing short of remarkable. Over the past year, she has achieved promotion to the Professoriate and secured an?NHMRC Grant?for her groundbreaking work in rare childhood diseases, particularly?Duchenne’s Muscular Dystrophy. To put this achievement into perspective, approximately just 6.5% of current NHMRC grant applications are successful. So I am thrilled for Emma and her colleagues while imagining the impact of the research they will be able to develop because of their hard work. Emma’s success is a testament to her dedication, expertise, and the impact of her research. Listen to the full episode here: https://lnkd.in/g2sMzVae Look out for more next week on VU's brilliant women. Emma Rybalka Andy Hill Dr Narelle Watson Annette M Herrera Carol Corzo Simone Wright Tara Schuurmans Kate Stephenson
Cure ADSSL1转发了
It is a privilege to be a rare disease researcher. On #RareDiseaseDay 2025, members of the ADSS1 Myopathy Research Consortium came together virtually to create a video about some of the things we do in the laboratory and clinic to improve our understanding of ultra-rare disease, #ADSS1myopathy, and to develop treatments and clinical care standards to improve patient outcomes. I am very proud of this movie, not only to represent the Consortium's efforts and raise awareness for this disease that I am so very passionate about, but, because my 12 year old son, Xavier, created this content. It takes a community to solve the complex puzzles that are rare diseases and I am so glad to involve my family in capturing ours. I might be biased, but I think Xav did a great job.....I hope you do too! Thanks to Cara Timpani, Wendy Hanna-Rose and team, and Merve Koc Yekeduz for co-starring. Victoria University Penn State University Boston Children's Hospital Harvard Medical School Cure ADSSL1 #CureADSS1myopathy
Meet the ADSS1 Myopathy warriors! #RareDiseaseDay is recognized around the world on the last day of February to raise awareness about rare diseases and the experiences of people living with them. This rare disease day, Feb 28th 2025, we are shining a light on the incredible strength of those living with ADSS1 Myopathy and the urgent need for awareness, research and treatment. Watch the video featuring ADSS1 Myopathy patients sharing their hopes, challenges and their resilience. Watch, Share and amplify their voices. Because together, we can drive change!
Cure ADSSL1转发了
THIS is what power looks like. Nearly 1000 #rare disease advocates from all 50 states are gathering together today United. Amplified. Stronger than ever. #RareDC2025 Today’s Legislative Conference is being streamed live - join us! Info in the Attendee Corner: https://lnkd.in/eKYHrgT6
Cure ADSSL1转发了
The current drug development framework was not designed for #ultrarare diseases. We cannot afford to let diseases go untreated – and to let children continue to die – when the science to provide a treatment exists. Join us at?www.ActforUltrarare.com?to help create an ecosystem that will stimulate development of treatments for ultrarare diseases. #ActforUltrarare
?? Q1 2025 Research Meeting Update ?? Cure ADSSL1 hosted its Q1 2025 research meeting, bringing together 20 researchers from 8 research institutes across the USA, UK, Australia, Turkey, and India to discuss the latest research updates on ADSS1 Myopathy. ·?????Dr. Kathryn Yammine (Dr. Alan Begg's group, Boston Children's Hospital) shared new phenotype findings from the ADSS1 KO mice model. ·?????Dr. Merve Yekedüz(Dr. Jaymin Upadhyay’s group, Boston Children's Hospital) presented unpublished patient focus group study data. ·?????Dr. Emma Rybalka (Victoria University) shared great news of her lab receiving 5-year NHMRC grant for ADSS1 myopathy research. We’re grateful for the collaboration and commitment of our global research partners as we work toward advancing ADSS1 Myopathy research and treatment development! Victoria University, Boston Children's Hospital, Penn State University, Indiana University School of Medicine, NIMHANS, Bangalore,Cardiff University / Prifysgol Caerdydd, Emory University, UMass Chan Medical School, National Institutes of Health (NIH): Intramural Research Program (IRP), Istanbul Faculty of Medicine, Huashan Hospital, Fudan University, Emma Rybalka, Alan Beggs, Behzad Moghadaszadeh, Kathryn Yammine, Hyder Jinnah, Oleg Shchelochkov, MD, Wendy Hanna-Rose, Jeffrey Brault, Angela Lek, Dr. Dipti Baskar, Fabrizio Pertusati, Morgan Kim, Julie Shulman, DPT, PhD, PCS, Emily Hickey, Rishika Patil, Merve Ko? Yekedüz, Jaymin Upadhyay, Charles Emerson, Dongsheng Guo,Hacer Durmus, Wenhua Zhu, Kexin Jiao
Cure ADSSL1转发了
?? Urgent Action Needed: For the 30 million Americans living with a rare disease, steady federal support for biomedical research and stability at national public health agencies are CRITICAL to advancing lifesaving treatments and initiatives. This weekend’s removal of key experts at The National Institutes of Health FDA, and Centers for Disease Control and Prevention—paired with executive orders impacting federal funding—threatens vital programs that rare disease communities and the entire nation depend on. ??? Tell Congress about the importance of their strong commitment to our federal health agencies?and?to the millions of Americans and families affected by rare diseases. Use this action alert and make your voice heard: https://lnkd.in/eZugK-dw #raredisease #takeaction #policy
This recognition is for every patient, family, researcher, and advocate who continues to push forward in the fight against rare diseases. Thank you BWE for this honor!
I am truly honored to receive The Phoenix Award – Rising With A Purpose, celebrating resilience, strength, and perseverance. Being recognized alongside eight inspiring women who are making a difference is an incredible privilege. A heartfelt thank you to BWE (Building Women Empowered) and ?Rennu Dhillon for this recognition and for empowering women to drive meaningful change. This award reinforces our commitment at Cure ADSSL1 to advancing research and finding treatments for ADSS1 Myopathy, a rare and progressive neuromuscular disease. Together, we rise, advocate, and persevere because every step forward brings hope to those who need it most. ??? #PhoenixAward #CureADSSL1 #RareDiseaseAdvocacy #BuildingWomenEmpowered
Cure ADSSL1转发了
The National Institutes of Health (NIH) has implemented a harmful 15% cap on indirect costs for research grants, threatening future progress in neuromuscular disease research. Indirect costs are essential to keeping labs running, supporting clinical trials, and ensuring that progress is made toward new treatments. ? Forty #neuromuscular #advocacy organizations have united to demand the NIH immediately reverse this policy, which could catastrophically harm neuromuscular disease research, drug development, and care ecosystem. Specifically, this policy would halt research, shut down labs, and stall future medical breakthroughs that are important to the MDA community. ? Read the statement here:? https://lnkd.in/e6j4Z87d We need to act now to protect the decades of progress we have made in neuromuscular disease research. TAKE ACTION and contact your representative to oppose NIH cuts: https://lnkd.in/gjbKC65S?