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Understanding
Okur-Chung Neurodevelopmental Syndrome

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Understanding
Okur-Chung Neurodevelopmental Syndrome

Sample Collection

One way that you can help accelerate OCNDS research is by providing a blood sample for research studies. Blood samples are valuable for research in many ways, such as: 

01

Helping Scientists Understand:

When you give a small amount of your blood, scientists can look at it closely to learn about OCNDS. They can compare samples to see differences between people with and without a condition – this helps them spot important patterns. When scientists study blood samples from many different people with the same rare disease, they can learn more about how the disease works. This can lead to more accurate diagnoses and better care.

02

Finding Treatments:

Your blood samples can help scientists discover new medicines or treatments. By studying the blood, they might find clues that lead to better ways to help people like you feel better.

03

Sharing Knowledge:

When you share your blood for research, you're sharing important information that can help doctors and researchers all around the world. This teamwork makes it more likely to find solutions for your rare disease.

04

Making a Difference:

By giving your blood, you're making a big difference in the lives of others who have the same rare disease. Your contribution doesn't just help you, but also the families of others with the same rare disease.

05

Creating Hope:

Your blood samples can bring hope to people who might be feeling scared or uncertain about their rare disease. Knowing that research is happening can bring a sense of hope and optimism.

06

Raising Awareness:

By taking part in research, you're also helping raise awareness about OCNDS. More people will learn about OCNDS and understand the challenges people face.

07

Improving Future Care:

When scientists study your blood, they can learn more about how OCNDS changes over time. This information can lead to better ways of caring for people with OCNDS in the future.

You can submit a blood sample directly through our partner, Simon’s Searchlight. They utilize Quest labs for US-based families, and they collect at in-person patient advocacy meetings, permitting international families attending to participate. The graphics below describe how this works. 

Simons Searchlight Blood Sample Collection

Simons Searchlight collects blood from families that have consented to provide samples as a part of their participation in the study. The blood samples collected for Simons Searchlight are de-identified and stored at a research repository. Qualified researchers can request to access these blood samples to better understand the genetic variants in Simons Searchlight.


Each family intending to have their blood drawn must:



  • Complete the online consent form for each participating family member and opt to provide a research sample.
  • Submit their genetic testing lab report.
  • Study coordinators will then confirm your eligibility.

Who can provide a blood sample?

*Coordinators will let you know if blood will be collected from siblings at this meeting.

Biological Mother

Biological Father

Child with genetic condition

2 Full Siblings

How does each family member consent for the blood sample?

1ST ACCOUNT

  • One biological parent registers for a research account, adds profiles for each child, and completes their consent forms, opting into research sample collection.

2ND ACCOUNT

  • Your child's other biological parent registers for a separate* research account and completes their consent forms, opting into research sample collection.


*Anyone over 18 must register for their own research account due to privacy regulations.

Adult Consent

laptop computer

Child Consent

Child with genetic change

child

Child Consent

Siblings

siblings

Questions?

If you have questions about how to create accounts or if you want to confirm that you opted into providing a research sample, please contact the study coordinators at coordinator@simonssearchlight.org or by phone at 1-855-329-5638.

We also partner with CombinedBrain (the Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders), a non-profit organization devoted to speeding the path to clinical treatments for people with rare genetic neurodevelopmental disorders by pooling efforts, studies, and data. Through this partnership, they can collect samples and share them with Simon’s Searchlight as well as other partner researchers to expand our impact. 


Remember, when you contribute your blood samples, you are part of something bigger – a community of people working together to make the world a better place for those with rare diseases. Your small act of giving can have a big impact!


Ready to donate? Register here.

What happens to your samples? 

Our main goal is to speed up research and create knowledge that matters to you. Your information makes new discoveries possible, but discoveries don’t help anyone if they’re not shared. We want you, your family, and scientists to benefit from what we collect and learn. 


Here is how Simon’s Searchlight shares data and biospecimens: 


  • We provide data (with your identifying information removed) to researchers worldwide through a free website called SFARI Base. This allows more scientists to access the data, speeding up new discoveries. 
  • We share new findings through conferences, webinars, quarterly reports, and personalized results about you and your genetic community on your dashboard. This keeps your community engaged and informed. 
  • We connect you with medical experts like genetic counselors who can explain your results. Knowledge is more empowering when you have support. 
  • In some cases, donated blood is used to make induced pluripotent stem cells (iPSCs) (Popup Definition: iPSCs, are special cells made from regular cells, like skin cells. Scientists change these regular cells to become like stem cells, which can turn into many different types of cells in the body. iPSCs are important because they can help researchers study diseases and test new medicines without using cells from the body). iPSCs help scientists understand how OCNDS cells work differently from the cells in people without the condition. These resources may also contribute to the development of treatments designed specifically with you and others in your community in mind.


This research model puts you at the center. We prioritize research questions that matter most to you and your family. By contributing data over time, you become an active partner in making new discoveries about your condition. By working together, we can transform limited knowledge into meaningful discoveries that benefit you, your family, and future families.

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