Csnk2A1 Foundation

“The board of directors were provided a copy of form 990 before filing with the irs and ftb.”

“Organization provides public access to form 990 and 501(c)(3) status letter. This information is also available via guidestar.org. All governing information is available to the public upon request.”

“Applicable documents are made available upon request.”

“We are all eager to leave 2020 behind; however, as our third year comes to an end, we are filled with tremendous hope! Our small but mighty organization surpassed our initial 3-year objectives. In our first three years, we: - strengthened communication, offered encouragement, and provided resources to ocnds families via our website and social media pages; developed reagents and made them widely available to researchers which will make it easier for researchers to develop treatments for ocnds and gain a better understanding of ocnds; - supported research that will help us begin to understand the biochemistry of ocnds; - maintained and grew a patient registry program; - facilitated and planned an in-person family meeting to foster hope, community, collaboration, and a further understanding of ocnds; and - raised the profile of this ultra-rare disorder through media attention, the creation of a public awareness campaign, and the formation of a strong advocacy group. We have extensive and lofty objectives for the next three years which will only be achieved by the entire ocnds community working together. Our research goals are simple - to advance the understanding of the disease mechanisms and to develop therapeutic treatments. Fundraising is vital to our success and our ability to meet our research objectives. Without our supporters, donors, and ocnds families, hope wouldn't be possible. Thank you! Research update there is no treatment or cure for okur-chung neurodevelopmental syndrome (ocnds) yet. Although covid-19 closures affected almost every aspect of life, our researchers never stopped working towards answers and a cure. Currently, a core group of scientists, who have been working on the csnk2a1 gene since before it was associated with ocnds, are conducting functional studies for selected csnk2a1 variants. Csnk2a1 is like a 'switch' for many other proteins, including genes associated with neural function. Our researchers are looking at ocnds from different angles: - structural biology - biochemistry - cellular biology - neural function, - behavior in mouse models, - and embryonic development in animal models like zebrafish and xenopus (frogs). In 2020, we awarded four new research grants that will help us to understand how ocnds arises and to explore potential therapeutics. The grants were awarded to: - dr. Heike rebholz, a neuroscientist and biochemist at the institut de psychiatrie et neuroscience de paris conducting a multi-year project studying the biochemistry of ocnds; - dr. Karsten niefind, a structural biologist at the university of cologne in germany, with extensive expertise in the crystallization and 3d structure of ck2 proteins; - dr. Joachim jose, an expert in protein-protein interaction and kinase inhibitors at westfalian wilhelms- the university of mu?nster in germany; and - dr. Isabel dominguez, a cell and development biologist at boston university. In 2020, we continued our collaboration with simons searchlight who is conducting a csnk2a1/ocnds long-term natural history study. We are improving our community's understanding of ocnds through our families' participation in the simons searchlight study. Our president, jennifer sills, continued her 2-year on the simons searchlight inaugural community advisory committee ("cac"). The cac is to advise and guide research and community activities on behalf of all simons searchlight participants and gene groups. The cac gives our foundation the chance to provide our perspective on simons searchlight's research priorities, offer feedback on research surveys and website functionality, and give input on articles, webinars, and other communications of interest to the community. To learn more about simons searchlight visit https://www.simonssearchlight.org in continued collaboration with simons searchlight, in 2021, we expect to have 8 to 9 ipsc cells available to qualified researchers. Ipsc cells are induced pluripotent stem cells. Ipsc cells are an important research too”

“During the interviews, i found myself crying because i saw myself in them. I heard my words, my thoughts, and my feelings in their words. It was as if i was sitting across from myself. I know the pain of which they are speaking. I experience the hope that they feel. I share many of the same wishes and dreams that they have for their own children. I also know the urgency and call to action that they feel. It made me feel a part of a larger community. It made me feel less alone. The isolation and loneliness that come with having a child with a rare disease are suffocating. It is indeed rare to feel like someone else truly understands what it is like to care for someone who is rare. The true beauty of this film is the power to see your own story in others and realize you are a part of a community even larger than your own rare disease community. Thank you daniel defabio and bo bigelow for this beautiful reminder that we are not alone! In august, our president gave testimony at the california rare disease caucus about how covid-19 closures and the lack of access to medically necessary services for her daughter jules, who has ocnds, led to unprecedented regression. She explained that jules' lifeline to the world is structure, a schedule, and consistency. In march, with the abrupt school closures and the loss of services, jules' lifeline disappeared and soon did the jules they knew. Their story isn't unlike many others with rare diseases or ocnds during these complicated times. In california alone, there are 4 million people living with a rare disease. States, including california, struggled to strike a balance between keeping families safe and healthy and providing services to rare disease patients that they so desperately needed. In her testimony, jennifer asked california assembly members: "as you are making decisions about prioritizing what to open, where and when, i ask you to please remember jules and other children like her and how they are struggling every hour of every day that goes by without the services that are vital to preserving their mental health and maintaining their skills that they have worked tirelessly for years to gain." thank you to cal rare and angela ramirez holmes for giving our president the opportunity to share jules' story. We are a proud member of the global genes foundation alliance. Global genes' mission is to connect, empower and inspire the rare disease community. As part of the foundation alliance, we have the opportunity to collaborate and exchange best practices with other rare disease organizations to drive better outcomes for the rare disease community. In october, global genes profiled our president and the csnk2a1 foundation. In december, cheryl-lynn townsin made an incredibly powerful documentary film in memory of her extraordinary daughter, lexi. The film shares lexi's rare disease journey alongside 7 other inspiring rare disease families. The film, rare humans: turning hope into action, features stories of amazing families who are stopping at nothing to find a cure for their children. We are beyond honored and humbled that the sills family's journey and the foundation's efforts are included in this powerful film. Fundraising we had no idea what to expect in this unprecedented year. In a time of great uncertainty, our donors' generosity knew no bounds. We have no paid employees. This organization is run on the blood, sweat, and sometimes tears of volunteers. A vast majority of the money raised goes toward life-changing research and the remainder goes to family educational programming to bolster the patient voice. With our donors' generosity, we were able to continue to fund life-changing research and programming. Due to the covid-19 global health crisis, we canceled our 2nd annual drive for diagnosis golf classic scheduled for april 20th at el caballero country club. The golf classic is our largest source of funding. Our golf committee, together with our board of directors, decided to refu”

“Connection every patient and their family has a unique story to tell about their rare disease journey. On average, it takes 7 grueling years for a family to receive a diagnosis. Families can feel defeated and isolated. Families can feel unheard and unseen. Finding a community can make all the difference on this rare disease journey. It is life-changing when someone understands your rare disease journey. Part of our mission is to foster connection and community for ocnds families. We identified 42 new ocnds families from around the world, including new zealand, france, spain, the united kingdom, the usa, hong kong, portugal, canada, netherlands, australia, india, and the uae. People living with rare disease often face a diagnostic odyssey, typically waiting for years for a diagnosis and receiving multiple misdiagnoses along the way. Volunteers are the lifeblood of our organization. We had 15 volunteers who generously donated their time. Our volunteers span the globe - from italy to texas to los angeles to chicago to new york to san francisco. Without our csnk2a1 foundation volunteer interpreters, we couldn't have connected with our new families from around the globe. In 2018, dr. Wendy chung and dr. Volkan okur provided our community with answers to the most common questions about ocnds. From this, we created a printable one-page document containing the most common ocnds questions to make it easy for families to share the information with friends, providers, teachers, and doctors. Since very little is known about ocnds, this document serves as a lifeline to those living with ocnds and their families. It helps patients and their families easily understand the diagnosis and provides recommendations for care. This year an ocnds family from the uae with the help of their treating physician translated the one-pager into arabic. The one-pager is now available in 9 languages. Partnership & family resources every year, we form more and more partnerships with other rare disease organizations. And we will continue to do so. Working together and sharing ideas will only help us achieve our mission faster and more efficiently. In 2020, we became members of four different organizations. - indousrare is a non-profit organization focused on accelerating therapies for rare diseases by building collaborative bridges between the usa and the indian subcontinent for education, advocacy, & research. - the rare epilepsy network (ren). Ren is a partnership between rare epilepsy organizations, the epilepsy foundation, columbia university, and research triangle international to conduct research to improve outcomes of rare conditions associated with epilepsy and seizures. - canadian organization for rare disorders ("cord"). Cord is a canadian non-profit organization dedicated to the enhancement of lives of all persons affected by rare disorders through an educational and informational support network. - cal rare. They are dedicated to improving the lives of rare disease patients in california. They are a coalition of rare disease stakeholders with a goal to raise awareness among the general public and decision-makers regarding rare diseases. Conclusion "the best way to predict the future is to create it." we aren't leaving ocnds to chance. We are tirelessly working towards a future in which we have a treatment or a cure for ocnds. We are creating a future in which our children are not plagued with ocnds symptoms. With your continued support, we are transforming hope into action.”

“Research: program service expenses 94,318. Management and general expenses 1,973. Fundraising expenses 0. Total expenses 96,291.”