Celebrating Our First Year
Riaan Research Initiative Celebrates One Year Fighting For Children with Cockayne Syndrome
(June 7, 2022) - Riaan Research Initiative was founded exactly one year ago today! We can’t believe a year has come and gone.
“Jo and the team have grown RRI faster than anyone could have imagined. It is a serious achievement to raise millions, fund research, and setup all the infrastructure necessary to build treatments. RRI is a great example of the power of patients to drive a meaningful change in society." - Sanath Kumar Ramesh, Founder & CEO of OpenTreatments Foundation
A year ago today, we received notification from our attorney that our non-profit organization had officially been incorporated in the state of Delaware. By this time, we had put together a Board of Directors, as well as a Scientific Advisory Board, and were deep in conversations with scientists from all over the world. It had only been three short months following our inspiration Riaan’s diagnosis, which was on March 12, 2021.
Riaan Research Initiative is the only 501(c)(3) patient and family-led research advocacy organization in the world with an exclusive mission of funding and accelerating the development of treatments for Cockayne Syndrome. While we all know that science does not always move at the pace that us parents desire, we are proud of the work we’ve accomplished and begun in the past year, thanks primarily to the support of our donors, and committed patient families who are driving this work with us.
“The week following Riaan’s diagnosis, I sent desperate emails to scientists and physicians asking: ‘Where are we on treatments? Is a therapy even possible? Is there anything that I can do as a parent to facilitate the development of treatments?’ Sometimes I was told no. Therapy is possible but we are a long ways away. No one was sure what I could really do as a parent. However not long after, it was a Thursday in April, we had Riaan undergo a skin biopsy to cultivate his fibroblasts to send to Leiden University for research, and I had one of the most important meetings of my life that afternoon with Dr. Terence Flotte, the Dean of UMass Chan Medical School to discuss the possibility of a Cockayne Syndrome gene replacement therapy program. Since then, it’s been a whole new world of possibilities.” - Jo Kaur, Founder and Chair, Riaan Research Initiative
First Year Fundraising and Funding Opportunities
“Margaret Mead said, 'Never doubt that a small group of thoughtful, committed citizens can change the world. Indeed, it is the only thing that ever has.' The same hold true for genetic diseases. Every successful effort to prevent, treat or cure genetic diseases has begun with thoughtful, committed parents, patients and families!" - Dr. Terence R. Flotte, International Gene Therapy Pioneer, Dean/Provost of UMass Chan Medical School, on Riaan Research Initiative's One-Year Anniversary
In the past year, we’ve raised approximately $1.5 million dollars. Thank you! In our first year, we’re proud to have funded $361,631 in translational scientific research to develop treatments for Cockayne Syndrome, including the world’s first CSA/ERCC8 gene replacement therapy pre-clinical program at the University of Massachusetts Chan Medical School and drug repurposing projects utilizing patient fibroblasts and patient-derived induced pluripotent stem cells with Leiden University Medical Center (“LUMC”) and Rarebase, respectively. Our drug repurposing project with LUMC seeks to discover already approved drugs that can alleviate the symptoms of neurodegeneration in Cockayne Syndrome patients with both CSA/ERCC8 and CSB/ERCC6 mutations, utilizing an ATF3-based assay. ATF3 is an early transcription factor gene that is specifically activated in Cockayne Syndrome patients, and can adversely impact genes downstream that cause neurodegeneration and some of the symptoms we see in our children, including primary microcephaly and sensory motor-neuron delays. Our goal is to find a drug or drugs that can inhibit ATF3, thereby preventing some of the neurodegeneration downstream, and improving our children’s well-being and quality of life.
"Jo Kaur did an amazing job in starting Riaan Research Initiative (RRI) and raising awareness for Cockayne Syndrome and bringing together researchers, patients and their families. Our research group is glad to be part of this community and to exchange reagents, methods and ideas to ultimately find a cure for this terrible disease.
Together with RRI, our research group launched a drug repurposing project focusing on finding compounds that can shut-down an early response pathway that is specifically activated in Cockayne Syndrome patients and that adversely affects genes with links to neurodegeneration. We are dedicated to moving this forward together with RRI.” - Martijn Luijsterburg, Ph.D., Department of Human Genetics, Leiden University Medical Center, Scientific Advisory Board Member, Riaan Research Initiative
What does it take to accelerate and fund this type of work? It’s not just a matter of a scientist approaching us, requesting money, and we write a check. It involves many meetings with researchers and our team to figure out the best proposal possible, understand and discuss the science, review budgets, as well as field questions and suggestions on how we can improve efficiency, cost, and timelines. This intensive process often involves a close consultation with members of our Scientific Advisory Board and CS patient-family and other rare disease advisors, including scientists from the National Institutes of Health, if needed. Our organizational values demand collaboration with scientists who view us as partners in an endeavor and prioritize our shared goal: utilizing science to save children’s lives, working as fast as humanly possible. To that end, we are incredibly grateful to the team of brilliant, innovative, thoughtful, and compassionate scientists working alongside us on this journey toward treatments for our children.
"Our research group has been inspired by the work of the Riaan Research Initiative and feel fortunate to be able to work with such a dedicated group. We are thrilled to see our CX mouse model being used for this high impact research, and honored by Jo's efforts to get the CX mouse available for broader distribution by Jackson Labs. We look forward to continuing to work with RRI to find treatments and ultimately a cure for CS for Riaan and all of the children and families who are affected by CS." - Michael R. MacArthur, MS, Ph.D and Sarah Mitchell, Ph.D, Laboratory of Healthy Aging, ETH Zurich
Our Board has approved another $400,000 in grants for ongoing projects this year. To fully complete this work, including the CSA gene replacement therapy project, will require us to raise a little over four million dollars total. We also have additional projects lined up this year that are in confidential discussions at the moment. We do not fund basic science: our primary focus is to advance research on projects that will ultimately (and sooner rather than later) translate into treatments for our children, and ensure successful clinical trials. The continuation of this groundbreaking work depends entirely on our ability to fundraise the full amount that we need. To donate, please visit riaanresearch.org/donate.
Media Outreach and Awareness
An even rarer phenomenon than having a child with a rare disease is getting coverage about the issues our families face by the mainstream media (let’s be honest, any media, really). When we know that our families are often primarily responsible for raising the resources necessary to fund the development of treatments, we also know it’s more challenging to be successful unless our stories are seen and heard by as big of an audience as possible. To that end, in the past year, our organization has prioritized media work.
We’ve successfully received coverage from local New York City outlets like The Queens Courier, as well as national outlets like Religion News Service, a piece which was then re-printed in The Washington Post, as well as SheKnows magazine, along with other smaller online bloggers and journals, including Saffron Press. We’ve also conducted television interviews with one of the largest Punjabi channels in North America - Jus Punjabi. Through this particular media outreach, a Pakistani family from abroad with children with Cockayne Syndrome contacted us to learn more about our work. Every bit helps, and can make a whirlwind of difference, particularly for an ultra-rare disease that impacts only a few hundred people out of the nearly 8 billion people currently alive on Earth. We have also significantly increased our presence on social media. Be sure to follow us on Twitter, Facebook, Instagram, and Tiktok at our handle: @riaanresearch.
Building Community
"I can't tell you how glad I am that you started this initiative. It is an incredible achievement how much your organization has already accomplished in one year. I am so grateful that you have found the time and energy to commit to advancing research on Cockayne Syndrome and developing a treatment for this terrible disease. There aren't many of us, and even fewer of us have the resources to fight the way you do. It gives me hope that children born with Cockayne Syndrome will have an opportunity for better treatment or maybe even for a cure." - Lena Dietsche, mom of Kian, diagnosed with Cockayne Syndrome
An endeavor as difficult and as complicated as this requires the strength of community. This has and always will be a team journey. This includes the Cockayne Syndrome community, friends, therapists, scientists, doctors, grandparents, extended family members, supporters, and members of the larger public. A critical goal for our organization is marching forward together, arm in arm, with other families impacted by this devastating disease, working to fundraise together to get treatments built for our children. Over the past year, we have been growing our community, becoming acquainted with more and more families from across the globe, and also sharing their stories through our blog and social media posts. We have also become close with our donors, many who follow our work and our updates, and remain committed to the cause. We are truly grateful for all of you. We urge families to reach out to share their story through us at info@riaanresearch.org, or just say hello and learn about our work (we’d love to hear from our supporters as well!).
“I once read a phrase: I needed a hero, so I became one. It immediately made me think of Jo and RRI. I always say, all parents love their children to the moon and back, but when you have a child with special needs, a child with a life-limiting condition, that love is a million times more intense, which is probably hard to imagine, but it is the truth. RRI is testament to that magnitude of love. That intense love has propelled Jo and Richie to accomplish amazing goals. Our family has so much appreciation for what RRI has done and is still doing. Not everyone has the resources or the emotional capacity to be involved in research for CS. For our family, not doing anything is also not an option. We will continue to support RRI. We want to thank RRI again for their work towards finding a cure for CS.” - Dr. Karen Jiang, Scientific Advisory Board Member, Riaan Research Initiative, mom of twins Noah and Marcus, diagnosed with Cockayne Syndrome
We believe it is important that the larger public and research community understand how beautiful, intelligent, gregarious, and precious our children are, and why we are doing everything possible to try and save their lives. They are more than their disease. They are magical, incredible human beings who deserve a full and healthy life. We also want to help families impacted by Cockayne Syndrome better understand the state of the research, and what needs to be done to get to clinical trials. To further this goal, we launched a #LearnMore series in our first year, providing research updates on social media, especially targeted to newly diagnosed families. The more informed our patient community about the state of the research, the higher our collective chances of getting treatments developed for our children. In our next year, we hope to obtain grants to increase our educational awareness work and focus.
Patient Registry
We’re also pleased to have launched a comprehensive Cockayne Syndrome patient registry, in partnership with Sanford CoRDS, in our first year! Our goal is to have at least 100 families join the registry. Once we have enough responses, we plan to publicly share de-identified data to help demystify the disease and symptoms our children experience. For more on the registry, including instructions on how to complete it and to learn why it is so important in driving future clinical trials, please visit: riaanresearch.org/registry or check out our previous blog post below with detailed instructions:
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We know the work ahead is long but we are confident that with your support, we will get there. This is a journey of unconditional love, and we are fiercely committed!
“I am hopeful that Riaan Research Initiative will make further progress toward raising awareness of Cockayne Syndrome, supporting patients and their families, and finding a treatment.” - Dr. Hal Schwartzstein, Scientific Advisory Board Member, Riaan Research Initiative
Thank you again to everyone who has supported us this past year. Please do continue to stay involved with our organization. This work is for our children, whom we love more than anything in the world. And we can’t do it without you and your commitment to helping us cross the finish line. Stay safe and be well.