Significance of Genetic Variant | CSNK2A1 Foundation

In moments of uncertainty, finding clarity can be a beacon of hope. We understand that receiving a new diagnosis of a rare disease can feel overwhelming, but we want to assure you that you are not alone on this journey. We are here to provide support, guidance, and valuable information to help empower you along the way.

You likely heard from the meeting with your genetic counselor that Okur-Chung Neurodevelopmental Syndrome (OCNDS) is caused by spelling changes (variants) in the CSNK2A1 gene. The CSNK2A1 gene creates a critical protein in our bodies, called CK2, and it has an important role in brain development. As we pursue OCNDS research and therapeutic discovery, it will be vital to know what your and/or your family members' specific change in the CSNK2A1 gene is.

Privacy

Your privacy is very important to us, and we will make every effort to protect it. We will not give information that identifies you to anyone except in cases where you provide your explicit consent. Information provided to researchers is aggregated and de-identified, meaning that the data is grouped and identifiable information such as your name, address, or contact information is removed. So, when someone looks at the data, they can't figure out who it belongs to. Both aggregated and de-identified data help protect privacy while still allowing researchers and companies to learn useful things from the information they collect.

Here are a few reasons why knowing the specific genetic change is important:

1

Research and Clinical Trials:

Advances in medical research and the development of targeted therapies rely heavily on understanding the underlying genetic mechanisms of rare diseases. By contributing your specific genetic results to research initiatives and clinical trials, you play a vital role in accelerating scientific discoveries and potentially uncovering new treatment options for yourself and others affected by the same condition.

2

Predictive Insights:

Knowledge of your genetic variant can provide valuable knowledge about what might happen over time, helping you and your healthcare providers anticipate the progression of the disease and plan for potential complications. This foresight allows for proactive management strategies, optimizing the quality of care you receive.

3

Family Planning and Genetic Counseling:

Your genetic variant not only impacts you but may also have implications for your family members. By identifying the specific gene variation, you gain valuable information for family planning decisions and may benefit from genetic counseling services to understand the inheritance pattern and potential risk to future generations.

4

Community Support and Advocacy:

Knowledge is power, and by understanding your genetic variant, you become better equipped to connect with others within the rare disease community who share similar experiences. Through mutual support, shared resources, and collective advocacy efforts, you can amplify your voice and drive positive changes in research, policy, and healthcare initiatives.

As you embark on this journey, we encourage you to prioritize obtaining detailed information about your genetic variant and its implications. We are here to support you on every step of the way; providing resources, guidance, and a compassionate community to lean on. Together, we can navigate the complexities of OCNDS and work towards a brighter, more hopeful future.

Where can you find the specific variant?

You can find the variant in your genetic report. If you do not have your report, we can help you.

We need the following information for the OCNDS registry:

c. (numbers and letters) In the example report picture, that is in the column labeled ‘cDNA’
p. (numbers and letters) In the example report picture, that is in the column labeled ‘Variant’
Classification In the example report picture, that is in the column labeled ‘Classification’ The result here may appear as the words pathogenic, likely pathogenic, benign, likely benign, variant of uncertain significance, disease-causing variant, or something similar