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Patients & Families
Be Part Of The Cure
Your data can help us find a treatment, or better yet, a cure for IRF2BPL-Related Disorder. Lack of patient data is a large obstacle when developing drugs and new treatments for rare diseases. Only 5% of rare diseases have FDA-approved therapies, and we want IRF2BPL-Related Disorder to be one of them! But without valid and reliable data, that won't happen. By contributing your data to these studies, you are helping us build the best scientific tools that researchers, clinicians, and biotech partners can use as we progress toward finding a cure.
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Taking Steps Towards Research
We are on a mission to create a safe and effective treatment for IRF2BPL-Related Disorder but we need your help! If you or your child has been diagnosed and would like to participate in the critical research being done, please enroll in the patient registries below. ​
Simons Searchlight: Simons Searchlight studies genes that cause rare neurodevelopmental disorders. The study is international, and families can participate in several languages.
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​Combined Brain: The Matrix registry through Combined Brain is a robust platform that will collect survey data to better facilitate collaboration between patients, caregivers, clinicians, researchers and foundations.
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Natural History Study: Database Of Clinical Data For Individuals With Variants In The IRF2BPL Gene (IRF2BPL). This study is currently being transferred between physicians. Stay tuned for how to enroll!​
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Participation is vital for medical research. It drives the discovery of new treatments and improves patient outcomes. By engaging in studies, participants contribute to a deeper understanding of diseases and the effectiveness of potential therapies.
Why is Data Sharing Important?
In order to improve care and develop treatments specific for IRF2BPL-Related Disorder, a better understanding of the IRF2BPL gene is needed. One way to gain understanding is through collecting information from patients and families. This can be accomplished in many different ways including (but not limited to) questionnaires and surveys collected over time, or reviewing past medical records for trends seen among patients with the same disorder.
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There is no cost to participate in any of these data collection programs.
Make A Difference
We need your support to develop a safe and effective treatment or cure for IRF2BPL-Related Disorder. Every share, donation, and word of encouragement brings us one step closer to success!​
Fundraising: Without funding, critical IRF2BPL research will stall. Tough Genes puts on multiple fundraisers each year that you can participate in or share with your community. You can also fundraise individually! If you are interested in getting more involved in our fundraising efforts, please contact us!
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Social Media: Social media can be a powerful tool to help raise awareness. By sharing our page, posts, personal stories, and resources we can continue to broaden our reach. Every post, hashtag, and shared story can contribute to a larger conversation, fostering understanding, empathy, and support for a cure.
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