2019: A Year in Review
January 7, 2020
“I was so over the moon to meet all of you guys! I wanted to take a moment and thank you for all of your work and dedication to the foundation. We appreciate you more than you will ever know!” - D.S., parent of an affected child.
“It was so important to our family to support the efforts of the RYR-1 Foundation in hopes of finding a treatment or a cure one day. The foundation has done so much in such a short time for the RYR-1 community and we are so grateful.” - M.E., parent of an affected child.
The above quotations portray the positive effect that the RYR-1 Foundation has had on hundreds of individuals and families affected by RYR-1-related diseases. Unfortunately, as of now, there are no treatments for this rare myopathy.
In October 2019, the RYR-1 Foundation celebrated its fifth year of existence. It’s sometimes hard to believe everything that has been accomplished during this relatively short period of time. Due to the support of many generous donors and the hard work of many volunteers, the RYR-1 Foundation can cite a wide range of key accomplishments over the course of the past year. These include:
1. Patient Outreach: The RYR-1 Foundation was awarded a $50,000 grant from the Oscar & Elsa Mayer Family Foundation to produce a handbook for patients and families affected by RYR-1-related diseases. Difficulty with accessing reliable and easily comprehended information on these rare conditions is a tremendous source of frustration and anxiety for affected individuals and families. With this grant, the RYR-1 Foundation will be able to produce an informative guide with practical and easily understood information. In keeping with the mission of the Oscar & Elsa Mayer Family Foundation, this handbook will be inclusive of underserved populations--we will be creating this handbook in nine different languages. For individuals who have difficulty with reading, there will be associated multilingual informational videos that will be freely available on the Foundation’s website.
2. RYR-1 International Family Conference: The planning for our next Family Conference has begun! I am excited to announce that the 2020 RYR-1 International Family Conference will be on July 31-August 2, 2020, in Orlando, Florida! To watch a short film on the RYR-1 International Family Conferences, please visit: www.ryr1.org/conferences. The RYR-1 Foundation has hosted two Family Conferences (in 2016 and 2018). Combined, there have been 388 attendees, representing 75 RYR-1-affected families from 31 states and eight countries. Under the leadership of Trustee Jeni Ryan, this biennial conference has become a “must-attend” event for the RYR-1 community. To register for the 2020 RYR-1 International Family Conference, please visit: www.ryr1.org/conference2020.
3. Research: The RYR-1 Foundation has spent over $900,000 in research funding. We are now on the cusp of our next round of research grants. Specifically, we sent out a “request for proposals” in 2019, and in October, we received 13 research grant applications from scientists from seven different countries who are seeking funding for their projects. The number and quality of applications the RYR-1 Foundation receives continue to grow--a sign of the increasingly significant role we are playing in the RYR-1 scientific community. These grant applications were rigorously evaluated by the Scientific Advisory Board (SAB) on December 7, 2019. With the SAB’s approval of five grants, the RYR-1 Foundation has committed to over $400,000 of new research funding. This brings the total amount of research support from the RYR-1 Foundation to over $1.3 million in just over five years. More importantly, this research funding will continue to advance the field of RYR-1-related diseases.
We continue to host biannual meetings of our SAB--these are critically important forums for the world’s leading RYR-1 researchers and clinicians to share research, collaborate, and, ultimately, advance the field of RYR-1-related research.
4. Rycals: As you may be aware, Rycals are a new class of drugs that have shown potential benefits in treating patients with RYR-1 muscle disease. I am pleased to announce that the Rycal human clinical trial at NIH has finally received Institutional Review Board approval to begin! This is a major achievement for the RYR-1 Foundation and, more importantly, for the RYR-1 community. I am proud that the RYR-1 Foundation played an important part in this process, in 2016, the RYR-1 Foundation awarded a research grant that evaluated the effect of Rycals on muscle biopsy samples taken from individuals with RYR-1 muscle disease. This study in the laboratory showed that Rycals reversed muscle damage and improved muscle function in those human samples. This grant served as the basis for the NIH trial.
5. Expanding Our Mission: As I have mentioned previously, we have partnered with Cody Hodgson, a former star in the National Hockey League, who was forced to retire at the age of 26 due to complications of RYR-1. To help raise awareness of the widening spectrum of RYR-1-related conditions, we produced a documentary about his journey with RYR-1 and his work with our organization. An abbreviated version of the “Hodgson” Documentary can be found at: www.ryr1.org/cody. This past August, we also hosted a benefit dinner and screening of the “Hodgson” Documentary in Pittsburgh. Supporters of the RYR-1 Foundation raised $6,150 at the event. This total exceeded the original goal of $5,000. To learn more about this event, please visit: www.ryr1.org/hodgsonfundraiser.
6. Fundraising: The RYR-1 Foundation has raised over $3 million since we launched in 2014. These funds will significantly impact our mission: 1) To support research leading to an effective treatment or a cure for RYR-1-related diseases, and 2) To improve the lives of the families and individuals affected by RYR-1-related diseases. The work we do would not be possible without the generous support of our many benefactors. To make a donation to the RYR-1 Foundation, please visit: www.ryr1.org/donate.
Of course, none of these accomplishments would ever have been possible without our donors, board of trustees, board of advisors, scientific advisory board, and volunteers. So, thank you to everyone who helped! Many challenges and opportunities await, and I look forward to transforming our slogan, Strength In Numbers, into a reality.
With sincere gratitude,
Michael F. Goldberg, MD, MPH
President & Co-Chair of Research