The purpose of our natural history study is to analyze patterns in individuals with HNRNPH2 genetic variants, including their neurological comorbidities, other medical problems and any treatment. We will maintain an ongoing database of medical data that is otherwise being collected for routine medical care. We will also collect data prospectively in the form of questionnaires, neuropsychological, and motor assessments to examine the landscape of deleterious variants in this gene. You need not be a local participant to take part in our study – most of our assessments are administered remotely, and we have participants from all over the world!
Our natural history study is approved by the Columbia University Institutional Review Board (IRB).
For more information on our study design and outcome measures of the study, please visit our research posting on clinical trials.
If you would like to enroll in our research at Columbia, please contact the Principal Investigator, Dr. Jennifer Bain at jb3634@cumc.columbia.edu.
Why Participate in Research?
Support
When you participate in research, you often get extra time with experts who are interested in learning about and helping your family
Discover
When your child has a rare genetic finding, the only way to learn more is by gathering information from as many people as possible, in a way that can be shared
Intervention
Research allows us to explore the health and behavior features associated with rare genetic changes. As we understand more, better intervention and medical management options can be developed.
Best Outcomes
Research helps us to understand how to promote the best outcomes for all people with autism, seizures and other developmental delays. Prepare for your child’s future by contributing information from today; understanding your concerns allows researchers to work toward developing treatments.
Feel Good
You may feel good about contributing to science in a way that will make the experience of having a rare genetic change easier for those following in your footsteps.