Understanding
Okur-Chung Neurodevelopmental Syndrome
2018 Year in Review
2018 YEAR IN REVIEW
One year ago on Rare Disease Day, we launched the official website for CSNK2A1 Foundation (the “Foundation”). The Foundation just celebrated its first year! We made tremendous progress in our inaugural year. Here are a few things this young organization accomplished in its opening year!
We started to fund a robust Okur-Chung Neurodevelopmental Syndrome (“OCNDS”) clinical research program. It is the first of its kind. As a part of that program, we are developing animal models which include mice and cell lines with mutations in the CSNK2A1 gene that mimic those mutations in individuals affected by OCNDS. Eventually, our researchers will be able to test therapeutics on animal models that will give us a better understanding of the syndrome and will help us develop treatments for those affected by OCNDS.
We began working with Simons Searchlight who is conducting an OCNDS natural history study. Through our patients participating in the Simons Searchlight study, we will improve our community’s understanding of OCNDS. To learn more about Simons Searchlight visit https://www.simonssearchlight.org .
We partnered with the Translational Genomics Research Institute (TGen), to build a CSNK2A1 research program at its Center For Rare Childhood Disorders. TGen is an Arizona-based nonprofit medical research institute dedicated to conducting groundbreaking research with life-changing results. TGen joined the City of Hope system in November 2016. City of Hope provides a significant clinical setting to advance scientific discoveries made by TGen. To learn more about TGen visit http://www.tgen.org .
In addition, in August 2018, over 70 people, including families, researchers and doctors from around the world, descended upon New Jersey for our first family conference. Participants met other children and families affected by OCNDS. It was the first time they were meeting someone like them. It was incredibly powerful for them to know that they are not alone. Patient and family blood samples are critical for rare disease research and we were able to get blood samples from many participants at the conference, which are being used to make cell lines.
We traveled to the United Kingdom and the Netherlands to meet families affected by OCNDS. There we met with exceptional doctors who are committed to helping OCNDS patients and their families.
We also traveled to Chicago to learn from another rare disease organization. Living true to the Global Genes’ Thrive motto “together we can do more than we can alone”, Dup15a Alliance Executive Director Vanessa Vogel-Farley invited us to see how an established rare disease organization runs its operations and prioritizes its patient community needs. We learned a tremendous amount as we set the goals for our Foundation for the next few years.
We have connected with 23 new patients from around the world. Some patients waited 21 years for a diagnosis. Without the CSNK2A1 Foundation volunteers, who donated their time to help interpret calls, we couldn’t have connected with our families in Korea, Italy and France.
We are excited for 2019. Already in 2019, we launched our first Rare Disease Day awareness project in which Tere Casas, a well-known artist from Mexico, donated her time to help youth in our local community come together to paint about community, acceptance, inclusion, and love. We also hosted a celebration on Rare Disease Day with over 100 people in attendance to bring awareness to OCNDS.
We have our first major fundraising event rapidly approaching. On April 22, 2019, we are hosting Drive for Diagnosis 2019 Golf Classic at El Caballero Country Club in Tarzana, California. Sign up before spots sell out at www.csnk2a1foundation.org/golf-classic .
We have another trip to the Netherlands, United Kingdom, France and Italy planned for late April. We can’t wait to connect with families in those countries.
Upon diagnosis, our families are told that there are no cures or treatments for OCNDS. We are changing this with your help. With your support, we are transforming hope into action.