Advisory Board Spotlight Series – Marissa Mitchel & NRXN1 Network
Welcome to the ASPE Advisory Board Spotlight Series!
Here at the UPenn Autism Spectrum Program of Excellence (ASPE), an Advisory Board has been formed to begin to address the gaps between the research community and the broader autism community, amplifying the voices of those we are doing the research for in the first place. The identities of these individuals are not mutually exclusive, including a diverse group of autistic self-advocates, family members and caregivers, and/or leading scientists and clinicians who focus their work on the autism spectrum. Many of these individuals identify with more than one of these backgrounds, just as we all come with many different interests, identities, and insights.
What better way to learn more about the wonderful individuals who make up our advisory board then hearing from them?
In today’s Advisory Board Spotlight, meet Marissa Mitchel!
Marissa has worked professionally with children with neurodevelopmental disorders for many years. As you read, you’ll learn about how her perspective broadened when her son was diagnosed in 2021 with NRXN1 disorder/2p16.3 deletion. Marissa strives to support and advocate for children with rare genetic disorders by strengthening the bridge between researchers, clinicians, and families. She lives in Lewisburg, PA with her husband and three children.
Learn more about Marissa Mitchel and her efforts to expand the supports of individuals affected by NRXN1 disorder by reading below!
1. Can you please tell us about your professional background, as well as your interest in NRXN1?
I’m a speech-language pathologist and researcher in an outpatient pediatric developmental medicine clinic. I have an interest in genetics, and I specialize in pediatric motor speech disorders and augmentative communication. My interest in NRXN1 started when my son was diagnosed with 2p16.3 (NRXN1) deletion in 2021.
2. How did you hear about ASPE and why did you decide to get involved?
I heard about ASPE through a psychologist colleague. I was looking for research opportunities at the time, especially once I realized how little doctors and scientists really knew about NRXN1 disorder.
3. Why did you join the ASPE Advisory Board?
ASPE is a wonderful program, and I wanted to support its efforts any way I could. I appreciate that they actively seek out the advice of autistic individuals, family members, and other important stakeholders when designing their studies and engaging in community outreach.
4. What is the NRXN1 Network? And why did you start this organization?
NRXN1 Network is a nonprofit patient advocacy group (PAG) for individuals with NRXN1 disorder and their families. Through my roles as a researcher and clinician, I’ve had the opportunity to work closely with PAGs for other rare genetic disorders and have seen firsthand how beneficial these organizations can be in bringing together families, researchers, medical professionals, and pharmaceutical companies.
5. What do you envision for the future of the NRXN1 Network?
We just recently had our nonprofit articles of incorporation accepted by the state, and the next step is to obtain federal 501(c)3 status. Our other specific goals for the future include: fundraising to fuel discovery and raise awareness, organize in-person and virtual meetings to bring together families and researchers, and publish evidence-based guidelines for the treatment of NRXN1 disorder.
6. How can family meetings and conferences help in facilitating research?
Family meetings and research conferences are beneficial in so many ways. NRXN1 disorder is rare enough that most people affected have never met anyone else with the same condition outside of their own family. It can be incredibly isolating. Meeting other individuals and families who are going through similar experiences can lay the foundation for a support network, form friendships, and build a community.
From a research perspective, there is no more efficient and effective way of engaging families in research studies than an in-person conference where dozens of families gather in the same place at the same time. Researchers have the opportunity to actually meet the families involved, and they can explain face-to-face what their studies entail and why they are so important. While online participation in research is invaluable, there are a lot of research activities that can only be done in-person.
7. What is the importance of an organization obtaining 501(c)3 nonprofit status?
The main benefit of obtaining federal 501(c)3 status is that donations are tax-deductible. Understandably, many people are reticent to give money to unofficial organizations that have not achieved this federal status. The flipside of this is that any funds that are collected by the nonprofit are not taxed by the government. Additionally, there are state, federal, and private grants that are only available to 501(c)3 nonprofits.
8. The ASPE Study primarily studies autism. In simplest terms, how can NRXN1 be related to autism?
NRXN1 disorder can be associated with many different neurodevelopmental and psychiatric symptoms and no two individuals are affected in exactly the same way. However, we know from case control studies that people with NRXN1 disorder are approximately 20x more likely to have autism than individuals in the general population. By one estimate, as many as half of all individuals with NRXN1 disorder are diagnosed with autism.
9. Why do you feel is it important to participate in research? In genetic studies?
Families are fundamental in driving scientific and medical advances forward, particularly when it comes to rare genetic disorders. Participation in research is necessary for any advancement in treatments or therapies. One of the biggest problems voiced by families affected by NRXN1 disorder is that medical professionals know little to nothing about it, and as a result we have no idea what interventions might be the most effective. The bottom line is that doctors can’t treat what they don’t know, and the only way to learn more is through participation in research.
10. How can those with a rare genetic disorder like NRXN1-related disorder join NRXN1 Network’s growing community?
You can visit our website (www.nrxn1network.org) and send me a message directly. You can also join our Facebook Community and follow us on X and Instagram.
–––––––
Click here to learn more about the NRXN1 Network: https://www.nrxn1network.org