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.”

“Reflecting on 2021 - the so-called year of recovery 2021 has been called the year of recovery and renewal as the world tried to move past the pandemic. We began the year thinking we had a handle on covid, but experienced continued lockdowns, the challenge of mask-wearing, social distancing, and canceled plans. 83% of ocnds families surveyed reported their children were negatively impacted by covid closures. Ocnds families lacked essential and medically necessary services for their children, which was particularly detrimental as structure and consistency are lifelines for those living with ocnds. Many children with ocnds also have autism, so the lack of social interaction was particularly challenging. Many families reported a change in demeanor or mental health decline, reporting that their children were increasingly sad, frustrated, angry, and had increased anxiety. Many of those with ocnds couldn't access distance learning due to their disability and, therefore, went without school. There was no respite care for families. Individuals with ocnds were also unable to get necessary surgeries. Families reported regression, weight gain, and sleep disturbances. We begin every year with a theme. 2021 was no family walks alone. Our families were more alone than ever during this pandemic. Our quarterly family meetings hosted by our parent advisory board ("pab") became a lifeline to many ocnds families struggling during the pandemic. At the end of each call, we ask every participant to say one word that describes how they are feeling at the end of the call. We frequently heard: "connected," "grateful, not alone," "understood," "excited," "togetherness," "hopeful, and "supported." despite the continued covid chaos of 2021, our families and researchers remain resilient and committed to our mission: finding a cure for okur-chung neurodevelopmental syndrome and ensuring affected individuals have the opportunities and supports necessary for happy and full lives. New goals for 2021-2023 our mission will be achieved by our ocnds community working together as one. If the last couple of years taught us anything, it is that we are better and stronger when we work together. We have a 3-board structure that supports our ability to accelerate the path to treatment: it consists of the board of directors, scientific advisory board, and our pab. We have extensive and lofty objectives for the next 3 years, which will only be achieved by the entire ocnds community working together. Our objectives & goals for 2021-2023 are: " engage, educate and empower the global ocnds patient community and strengthen the patient voice; " remove barriers to participation such as language, scientific knowledge, and socioeconomic; " provide opportunities for families, clinicians, and researchers to work together to set research priorities; " augment all of our boards - board of directors, scientific advisory board, and pab - with diverse global experts; " continue to develop reagents (e.g., ipsc cells, animal models) and make them widely available to researchers, which will make it easier for researchers to develop treatments for ocnds and gain a better understanding of ocnds; " launch high-impact studies with researchers around the globe to investigate the cause, key cell types, and new treatment targets for ocnds; " maintain and grow our patient registry program; " facilitate and plan in-person and virtual family meetings to foster hope, community, collaboration, and a further understanding of ocnds; " continue to support the csnk2a1/ocnds international natural history study at simons searchlight and to grow our biobank; " collaborate, brainstorm, and work with other rare diseases groups; " raise the profile of ocnds through media attention, public awareness campaigns, and advocacy; orchestrate expansion of fundraising efforts. Research update there is hope! Science is progressing at a rapid rate. Rare diseases once thought to be incurable or untreatable are now being tr”

“In continued collaboration with simons searchlight, in 2021, we enhanced our researcher toolbox by adding 9 patient-derived ipsc cells which are available to qualified researchers, institutions and companies. Ipsc cells are induced pluripotent stem cells. Ipsc cells are an important research tool for modeling and investigating rare diseases and drug screening. Ipsc cells can be made from a patient blood sample or skin cells. Researchers take a person's skin or blood and reprogram them into ipcs cells, and then use those to grow liver cells, neurons, or whatever cell is needed to study a disease. Since we wouldn't harvest neurons or brain cells from our children, we can use these ipsc cells and turn them into neurons for researchers to study. Researchers will be able to tell how a mutation on the csnk2a1 gene affects neurons and other cells in the body. At our conference in august, dr. Chung issued a challenge to our ocnds community to become part of the 100 game-changing ocnds families. If 100 ocnds families sign up for the simons searchlight long-term natural history study, she will have the information needed to write clinical practice guidelines. When someone is diagnosed with ocnds, there are no clinical care guidelines for physicians. Clinical practice guidelines are recommendations on how to diagnose and treat a medical condition such as ocnds. Clinical care guidelines are meant to help ensure that patients receive appropriate treatment and care. Currently, care varies wildly from patient to patient without these guidelines. We are changing this. We are actively recruiting families to join simons searchlight. In 2021, we had 37 new families join simons searchlight. Unfortunately, covid also kept our scientists from meeting in person again this year. On may 27th, together with sfari and simons searchlight, we hosted our csnk2a1 annual scientific conference. There were 28 researchers, clinicians, and team members from across the globe sharing and collaborating to bring actionable results to our ocnds community. The agenda included a short introduction to sfari resources and funding opportunities, a short introduction of each participant's research interests and how csnk2a1 fits in with their interests, and an open discussion on the science. We love seeing young scientists taking an interest in ocnds & csnk2a1 research. On august 3rd, kamawela leka was awarded $250 for being one of the top 10 posters out of the 45 posters for their work on csnk2a1 that were presented during the annual tgen helios scholar symposium. Kami is currently working on their undergraduate thesis work under the guidance of dr. Rangasamy and dr. Narayanan at tgen. The csnk2a1/ocnds research project at tgen is focused on understanding the molecular mechanisms of ocnds using cell and zebrafish models. Awareness most people have never heard of ocnds. We are changing this - one event, one social media post, and one t-shirt at a time. With awareness comes social acceptance and kindness, which can mean all the difference for a family struggling with basic daily activities. We host several awareness events throughout the year to shine a light on ocnds. Rare disease day takes place on the last day of february each year. This year it fell on sunday, february 28, 2021. The main objective of the campaign is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives. On february 28th, we united with over 300 million people worldwide living with a rare disease to work towards more equitable access to diagnosis, treatment, care, and social opportunity. We loved seeing our ocnds families bringing awareness to their communities for rare disease day. Our pab member, amber reynolds, created a new product line for her rare disease day fundraiser, "love needs no words!" she raised over $1600 from her t-shirt sales. The foundation hosted a rare disease day 2021 event with the color-coded chef. Terri jordan, th”

“Fundraising in a time of great uncertainty, our donors' generosity knew no bounds. 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 continued to fund life-changing research and vital family programming. On october 16th & 17th, we hosted our first run, walk & roll fundraiser and awareness campaign! We invited friends, family, and supporters to move into action for ocnds. We set a fundraising goal of $10,000. We surpassed our goal and raised over $18,000. We also sold 163 event t-shirts. Families and supporters participated from all over the world: australia, uae, france, italy, austria, united kingdom, united states, and canada. A special thank you to everyone who created a facebook fundraiser, including team brady, team kind cordelia, team ellie, michelle proctor-simms, team rockin' robin, quipe den romeo, friends of cody, team kirsty, team runnin' with rowan, team jules rules, abilgaile firth, jules' journey, quinn niess, matilda's fundraiser for ocnds, team samuel, and team happy harper. On november 30, 2021, the world was united by giving tuesday, a global day of giving. We launched our no family walks alone campaign. We raised a record-breaking total of $168,749 from facebook, instagram, online donations, and mail-in donations, plus the matching donation. Thank you to all of our donors and supporters for making this a huge success! A heartfelt thank you to joan & charlie davis for matching $50,000 of donations made to the foundation. Facebook matched $1046 of donations made to csnk2a1 foundation for giving tuesday. Empowerment & education due to covid-19 restrictions, our in-person scientific and family conference pivoted to a virtual event. In partnership with simons searchlight, the virtual family conference took place over 3 days in july and august. We had an overwhelming response to the virtual conference. Pab member elisabeth mellinger said, "my favorite session was the one where dr. Dominguez, dr. Rebholz, and dr. Okur talked about research that is happening and how ck2 works in the body." ocnds parent penelope gatlin mentioned that her second favorite was understanding problem behaviors in neurodevelopmental disorders. Recordings of the conference sessions are available on our website. We hope to see everyone in person next year, 2022, in baltimore. In 2021, our pab was incredibly busy. In february, they conducted the first-ever needs assessment survey of the ocnds community. The results from this survey would inform all foundation decisions, including our research priorities and agenda. The survey consisted of 31 unique questions that collected both qualitative and quantitative information about ocnds. 66 families participated in the survey, and 9 different languages were represented. We discovered: " the most common ocnds symptoms reported were speech delay, global development delay, learning disabilities/cognitive impairment, delayed motor skills, low muscle tone, short stature, sensory processing issues, dental problems, autism spectrum disorder traits, constipation, vision issues, eating small amounts, and adhd. " the top reported concerns about people living with ocnds right now are speech, independent living, toileting, education, fine and gross motor, self-care/hygiene/sleep, behavioral, emotional, and puberty. The overwhelming concern about the future was independent living, followed by what will happen to ocnds children when their parents/caretakers are no longer alive. " 75% of participants have heard of simons searchlight ocnds natural history study, but only just over half of these families have actually participated. Many in our community do not know why participating in research is important and would like more information. We held a webinar to address these concerns and increase pa”

“Receiving an ocnds diagnosis can be overwhelming and heartrending. Our pab understands how difficult it can be to navigate an ocnds diagnosis. To help families on this journey, our pab developed an ocnds/csnk2a1 foundation brochure. This brochure can be shared with your family, friends, teachers, providers, and clinicians to learn more about ocnds. We partnered with wordly inc. To bring families from all over the world together using ai real-time translation technology. It is a vital part of our mission to strengthen and amplify the patient voice. By removing the language barrier to participation, we are ensuring that every ocnds family, regardless of their native language, has a voice and can participate. We can now provide a space for non-english speaking ocnds families to connect, share ideas, and drive research forward. In 2021, we continued our parent education webinar series. We provide informational videos to help parents and patients navigate their rare diagnosis and inform them about the different types of interventions available. The more families know about different types of therapies and services, the more vital and vibrant ocnds patients' lives can be. In april, we hosted a webinar about alternative communication. Severe speech delay or inability to speak is one of the hallmark symptoms of ocnds. The use of augmentative-alternative communication (aac) provides a "voice and a means of communication to those who cannot rely on their natural speech to communicate. When children and adults cannot use speech to communicate effectively in all situations, there are options. And in december, we hosted a webinar about the benefits of equine therapy with lulu bogolin, executive director of equine-assisted therapy, inc., and pab member, terri jordan. The scientific language in published research papers can be so complex you may feel like you need a ph.d. To understand what they are saying. To address this issue, in q2, with the help of our researchers, we launched a new program called research explained. We ask researchers to explain their research in a language we can all understand. We believe we have a duty to make sure people affected by ocnds and their families can easily understand their diagnosis and to empower them to be effective advocates. In 2021, two new ocnds research papers were published in 2021, and our families could easily digest these papers with this new program in place. Connection part of our mission is to foster connection and community for ocnds families. Ocnds families can feel defeated, isolated, unheard, and unseen. Finding a community can make all the difference on this rare disease journey. We welcomed 64 new ocnds families into our community. The new families spanned the globe: poland, united kingdom, norway, france, portugal, romania, italy, malaysia, canada, spain, brazil, germany, united states, and australia. With increased access to genetic testing, we will continue finding more families. Running a small but mighty rare disease organization takes a village and a vineyard. Our village is the lifeblood of our organization. We had 30 volunteers who generously donated their time. Our volunteers span the globe - from australia to italy to texas to los angeles to chicago to new york to san francisco. Partnership & family resources every year, we form more and more partnerships with other rare disease organizations. Working together and sharing ideas will only help us achieve our mission faster and more efficiently. In 2021, we became members of 2 different organizations: " ren - rare epilepsy network. The mission of rare epilepsy network (ren) is to work with urgency to collaboratively improve outcomes of rare epilepsy patients and families by fostering patient-focused research and advocacy. " cal rare. They are dedicated to improving the lives of rare disease patients in california. They are a coalition of rare disease stakeholders with the goal of raising awareness among the general public and”