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| Lindsay Goldberg, BSN, RN Executive Director, Patient Liaison & Co-Founder The RYR-1 Foundation |
The RYR-1 Foundation Advances RYR-1-RD Research With Funding Almost $500,000 in New Grants
The RYR-1 Foundation is elated to announce the recipients of the 2025 – 2027 Individual Investigator Grant Awards! We awarded a total of $480,000 in grant funding to four outstanding researchers following a comprehensive peer-review process led by the organization’s Scientific Advisory Board (SAB).
“On behalf of The RYR-1 Foundation’s Scientific Advisory Board, I would like to extend our congratulations to the four grant recipients. The number and quality of grant applications submitted for the current funding cycle was simply exceptional. The application review process was rigorous and included an outstanding panel of internationally acclaimed experts in the RYR-1-RD field. It is an honor to support the important work being pursued by these investigators and serve as Chair of the SAB,” said Robert Dirksen, PhD.
Grant recipients and their area of research are listed below:
- Selene Ingusci, PhD, Research Instructor, Microbiology and Molecular Genetics, University of Pittsburgh
Research Title: “Treatment of mouse models of RYR-1 myopathy using HSV-1 replication-defective vectors for durable, safe expression of the full-length RYR-1 cDNA.” - Afrooz Rashnonejad, MSc, PhD, Assistant Professor & Principal Investigator, Center for Gene Therapy, Abigail Wexner Research Institute at Nationwide Children’s Hospital, The Ohio State University College of Medicine
Research Title: “Evaluating two strategies for restoring RYR-1 protein expression.” - Hichem Tasfaout, PhD, PharmD, MS, Acting Assistant Professor, Department of Neurology, University of Washington
Research Title: “Expression of full-length RYR1 using split inteins and myotropic AAVs.” - Francesco Saverio Tedesco, MD, PhD, Professor, Senior Group Leader, Consultant Paediatric Neurologist, Cell and Developmental Biology, University College London
Research Title: “Advanced modelling of RYR1-related myopathies using 3D bioengineered human skeletal muscles.”
“We are thrilled to back this groundbreaking research led by these four exceptional researchers,” said Chair of the Board of Directors and Co-Chair of Research for The RYR-1 Foundation, Mike Goldberg, MD, MPH. “We congratulate the grant recipients and look forward to the insights and advancements their work will bring to the field.”
For more information contact Mike Goldberg.
The Co-Directors of the Research Workshop invite young investigators, students, and trainees including—undergraduate and graduate students, postdoctoral fellows, medical students, medical residents, clinical fellows, early-career researchers—to apply to attend the 2025 RYR-1-Related Diseases Patient-Led International Research Workshop: Novel Perspectives, Treatments & Interventions. If interested in attending, please complete the application by March 31, 2025.
SAB Chair Co-Writes Publication Focused on Muscle Adaptations in Mouse Model
Robert Dirksen, PhD, Chair of The RYR-1 Foundation’s Scientific Advisory Board and the Lewis Pratt Ross Professor and Chair of Pharmacology and Physiology at the University of Rochester Medical Center, led this new study which examines how mice with RYR-1-Related Diseases (RYR-1-RD), specifically muscle weakness and other related complications, attempt to adapt their muscles in response to changes in the RyR1 protein. The RYR-1-RD mouse model, which carries variants (mutations) in the RYR1 gene, was developed as part of research funded by The RYR-1 Foundation.
He co-wrote the paper Compound heterozygous RYR1-RM mouse model reveals disease pathomechanisms and muscle adaptations to promote postnatal survival, which was published in the journal FASEB (Federation of American Societies for Experimental Biology).
“The results of this work have important implications for RYR-1-related myopathies,” noted Dr. Dirksen. “The understanding of how specific muscle adaptations in a subset of mice promote survival and limit muscle weakness can help scientists develop treatments for people with RYR-1-RD. Such critical research would not be possible without the support of The RYR-1 Foundation.”
Stay tuned for details about an upcoming webinar on this study, hosted by The RYR-1 Foundation. The webinar will feature Dr. Dirksen, with President of the Board of Directors and Co-Chair of Research for The RYR-1 Foundation, Mike Goldberg, MD, MPH serving as the moderator.
For more information contact Mike Goldberg.
Celebrate the New Year by registering for The RYR-1 Foundation’s International Family Conference! The Family Conference will be held on July 24 – July 27, 2025 at the Hyatt Regency Pittsburgh International Airport.
The Family Conference provides a unique opportunity for individuals and families affected by RYR-1-RD to meet others from around the world in person, build relationships, share experiences, exchange valuable information, and become part of the RYR-1-RD community.
Here’s a Glimpse of What Participants Will Experience:
- Panel discussions led by members of the RYR-1-RD community on a variety of topics.
- Educational lectures and interactive panel discussions with professionals and members of the RYR-1-RD community.
- Enhanced social activities, including an Opening Night Reception.
- Opportunities to connect and share experiences with others in the RYR-1-RD community.
Family Friendly Activities Include:
- Kids Club – for children 5 years old and older. Activities are planned for each day and focus on a “carnival theme.” Activities include a magic show, balloon art, games, arts and crafts, a movie night, and surprise guests, all supervised by experienced staff and volunteers.
- Teen Lounge – for teenagers 15 years old and older. This lounge gives teens an opportunity to relax and connect with each other when they are not attending lectures and sessions.
For those interested in volunteering for the Kids Club or in other roles to help make this Family Conference purposeful, please reach out to Lena Leghart for more details.
For more information contact Lena Leghart.
To Register and For More Information
The RYR-1 Foundation participated in the Breakthroughs in Muscular Dystrophy Conference hosted by the American Society of Gene and Cell Therapy (ASGCT) and the Muscular Dystrophy Association (MDA) held on November 19 – November 20, 2024 in Chicago, Illinois, USA.
Chair of the Board of Directors and Research Co-Chair, Michael Goldberg, MD, MPH, along with Executive Director and Patient Liaison, Lindsay Goldberg, BSN, RN, attended the conference on behalf of The RYR-1 Foundation. Read more in the news release below.
Contact Lindsay Goldberg and/or Mike Goldberg for more information.
Inspire Individuals and Families: Sponsor the 2025 International Family Conference!
Help bring together individuals and families from around the world for this special event. By becoming a sponsor, and helping to keep conference costs lower, more individuals and families have the opportunity to participate in the only International Family Conference focused solely on RYR-1-Related Diseases (RYR-1-RD).
Sponsors have the opportunity to engage directly with individuals and families by attending the event, hosting a table or booth, and even introducing a speaker. Benefits vary by sponsorship level and include a comprehensive social media package, as well as recognition before, during, and after the Family Conference. Custom sponsorships are also available and sponsorships start at $1,000!
A sponsorship can provide support for:
- The Kids Club – featuring a carnival-themed atmosphere and a variety of activities, all staffed by dedicated volunteers.
- A Lounge for Teens – a space for teenagers to relax and unwind when they’re not attending lectures or sessions.
- And many other perks for individuals and families attending the Family Conference!
The RYR-1 Foundation looks forward to partnering with sponsors!
For more information contact Pat Raffaele.
Family Conference Sponsorship Opportunities
Foster Innovation: Sponsor the Research Workshop!
By sponsoring the 2025 RYR-1-Related Diseases (RYR-1-RD) Patient-Led International Research Workshop: Novel Perspectives, Treatments and Interventions, organizations have the opportunity to support the only Research Workshop dedicated exclusively to RYR-1-RD. Sponsors provide a meaningful exchange of breakthroughs in research among scientists, affected individuals, and healthcare providers from around the world.
In addition sponsors:
- Enhance brand visibility globally
- Connect with experts, potential collaborators, affected individuals & families, and thought leaders who are passionate about RYR-1-RD research
Sponsorships for the Research Workshop begin at $1,000 and benefits vary by level. Custom sponsorships are also available.
The Research Workshop will be held July 23 – July 24, 2025 at the Hyatt Regency Pittsburgh International Airport.
For more information contact Pat Raffaele.
Research Workshop Sponsorship Opportunities
Seattle Seahawks Head Coach Supports The RYR-1 Foundation Through My Cause My Cleats Program
Seattle Seahawks Head Coach Mike Macdonald proudly wore custom-made shoes featuring The RYR-1 Foundation’s logo as part of the NFL’s My Cause My Cleats initiative.
As part of the program, NFL players and coaches select a cause of their choice, wear custom-designed shoes or cleats during a game to raise awareness, and then auction them off to benefit their chosen charity.
Coach Macdonald wore his personalized shoes in honor of his nephew, who is affected by an RYR-1-related disease, and generously donated the proceeds from the auction to The RYR-1 Foundation. Additionally, Brian Nemhauser of Hawk Blogger, a popular Seattle Seahawks blog, chose to spotlight Coach Macdonald’s cause with a donation from his platform.
Thanks to this initiative, The RYR-1 Foundation received more than $7,000 through the My Cause My Cleats program and the additional donation from Hawk Blogger.
“We are extremely grateful to Coach Macdonald for selecting The RYR-1 Foundation as his special cause in honor of his nephew,” said Lindsay Goldberg, Executive Director, Patient Liaison & Co-Founder of The RYR-1 Foundation. “We not only deeply appreciate the funds raised, but also the awareness Coach Macdonald brings to our organization and RYR-1-related diseases.”
Contact Lindsay Goldberg for more information.
RyCarma Therapeutics Announcement
RyCarma Therapeutics, Inc., formerly known as ARMGO Pharma, is a clinical-stage biotech company focused on developing first-in-class small molecule therapeutics for cardiovascular and skeletal muscle diseases. The company has announced a leadership change, and a rebrand, including a name change from “ARMGO Pharma, Inc.” to “RyCarma Therapeutics, Inc.”
The name “RyCarma” reflects the company’s pioneering work in ryanodine receptor (RyR) biology and its leadership in advancing the therapeutic potential of Rycals®, a novel class of small molecule drugs. These drugs, developed from research led by The RYR-1 Foundation’s Scientific Advisory Board member and inaugural Chair, Andrew R. Marks, MD, works by addressing leaks in the ryanodine receptor/calcium release channels. ARM210 is currently being studied for its potential to treat RYR-1-Related Diseases (RYR-1-RD).
ARM210 is designed to fix malfunctioning ryanodine receptors (RyR1), which help control calcium flow in muscles, a process that’s crucial for muscle movement. In a Phase 1b clinical trial at the National Institutes of Health, involving patients with RYR-1-RD, ARM210 showed improvements in muscle strength and reduced fatigue. It was also well-tolerated, with no serious side effects or safety concerns related to the dosage.
The company also introduced several new members of its leadership team, who bring a track record of success in leading biotech companies and guiding novel biological discoveries through drug development.
“With its new leadership team, RyCarma Therapeutics appears to be well positioned to support the next phase of development of Rycals for RYR-1-RD,” said Board President and Co-Chair of Research of The RYR-1 Foundation, Michael Goldberg, MD, MPH. “The RYR-1 Foundation looks forward to working with RyCarma Therapeutics to help support their important work.”
To contact RyCarma regarding information on clinical trials with Rycals® for RYR-1-RD, send an email to clinicaltrials@rycarma.com.
National Press Release From RyCarma Therapeutics
