For Families
DHX30 genetic mutations are rare, but you’re not alone.
We’re with you.
We know the flood of emotions that come with a DHX30 diagnosis — the confusion, the fear, the grief. We’ve been there too. Like you, we’ve searched for information, reached out to doctors, wished for more clarity, and tried to turn the uncertainty into purpose.
We founded the Rare Remy Foundation to create a future where families have more answers and hope than we did when we started. Whether you’re newly diagnosed or have been on this journey for decades, here, you’ll find resources, as well as our single-minded focus on helping DHX30 patients and families by advancing science.
Let’s turn our shared challenges into progress, together.
Remy’s proud parents,
Lizz & Bobby
Resources
Community & Mental Health
DHX30 Community: Join the international DHX30 Related Disorders / DHX30 Mutations Facebook group founded by our friends from DHX30 United
Mental Health: Review Global Genes’ Mental Health Resources for the Rare Disease Community
One-on-One Assistance
Parent-to-Parent USA Support: Connect with your state’s p2pUSA for peer support from staff and parents of children with disabilities
NORD USA Support Helpline: Reach out to the National Organization for Rare Disorders (NORD)’s Support Helpline for basic assistance or browse their website, which is a wealth of resources
Global Genes RARE Concierge: Reach out to Global Gene’s RARE Concierge’s patient service guides who can help you navigate the complicated world of rare and undiagnosed diseases and provide resources, education, and connection. Global Genes is a fantastic organization with many resources on their site
Rare Remy Foundation Co-Founders: Connect with us directly
Knowledge
DHX30 Knowledge: Arm yourself with information about DHX30 from reputable sources such as our scientifically reviewed About DHX30 hub or the National Institutes of Health (NIH USA)’s Genetic and Rare Diseases (GARD) Information Center
Rare Disease Knowledge & Current Events: Learn about the basic facts of rare disease from Global Genes or NORD, and stay updated on news via Global Genes' RARE Daily, NORD's LinkedIn, or other sources
Therapeutic (Treatment) Knowledge: Understand potential treatments such as Gene Therapy, Antisense Oligonucleotide (ASO), and Drug Repurposing
Research Opportunities
Every breakthrough in DHX30 research starts with families like yours choosing to engage with and support researchers.
Around the world, more and more DHX30 families are stepping up to influence the research agenda rather than waiting on the sidelines. The Rare Remy Foundation is building a connected community of these patients, caregivers, clinicians, and scientists, but this effort only works when each family adds its voice.
Every small step you take can move the science forward faster than you might think: sharing a blood sample, answering a survey, contributing data from clinic visits, talking about what good days and hard days really look like, and putting a face to this disease. When families invest their time, stories, and resources, they are helping uncover the mechanisms of this ultra-rare neurodevelopmental disorder and provide affected patients with real pathways to progress.
Join families that have already stepped forward to advance DHX30 research. Current opportunities include:
OPPORTUNITY
Donate Samples to DHX30 Biobank
Biobanks (also called biorepositories) store de-identified biological samples such as blood, saliva, iPSCs, or tissue from patients. These patient-derived specimens are critical tools scientists need to understand our disease and develop and test treatments.
As a patient-advocacy group (PAG), the Rare Remy Foundation has partnered with reputable non-profit biobanks that align with its values of collaboration, transparency, and urgency. Below we’ve listed these biobanks and answered Frequently Asked Questions.
Storing samples with neutral-ground non-profit biobanks that promote seamless, equitable accessibility makes samples quickly available to qualified researchers and attracts more scientists to work on the disease. It also ensures adherence to high-quality best practices and standardized protocols.
If you have questions or would like to contribute, please send a message on our Contact Us page with subject line “Biobank Donation.”
Frequently Asked Questions
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Blood draw or skin biopsy from the individual with the genetic mutation, as well as confirmation of DHX30 diagnosis, such as a genetic report.
Depending on your situation, you may be able to donate at our biobank’s US roadshows, at home, or at a clinician visit.
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We have opportunities for both US and non-US families interested in donating.
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Qualified researchers looking to study rare disease can request de-identified samples through application and approval processes.
Privacy and confidentiality of donors are taken very seriously. This means donor names and personally identifying information are removed from samples and replaced with a code number, and no personally identifying information is given to recipients of materials made from donated samples.
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These organizations are formed to serve a public or community benefit (in the case of rare disease - they typically benefit Patient Advocacy Groups). They are biological sample and health data repositories that allow researchers outside the organization to access its resources under defined governance and ethical rules.
These organizations maximize data and sample sharing to accelerate scientific discovery while still adhering to stringent industry standards. Championing broad access does not mean that anyone can download data or obtain samples without restrictions - qualified researchers request access through application and approval processes which are designed to facilitate ease of use.
Donating to these organizations supports:
Equitable Access & Collaboration:
Promote equitable access to biospecimens for a diverse research community, fostering collaboration and broader scientific impact. Centralized governance also simplifies Material Transfer Agreements (MTAs), reducing administrative burden and accelerating sharing.
Scientific Integrity & Fairness:
Support reproducible, high-quality research through standardized collection, processing, storage, and quality control procedures.
Long-Term Stewardship:
Ensure long-term sustainability by preserving collections beyond individual grants, personnel changes, laboratory closures, or investigator retirement. Openly shared resource accelerates research and strengthens capacity by providing immediate access for new studies, collaborations, and grant opportunities.
About the Biobanks
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CombinedBRAIN (short for Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders) is 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.
CombinedBRAIN is led by patient advocacy foundations, working with the clinicians, researchers and pharmaceutical firms that are developing treatments for the disorders they represent
Together with COMBINEDBrain, the Rare Remy Foundation established the first-ever DHX30 patient-powered biobank to collect and store samples that are critical to powering research investigations.
This biobank is open to families located in the US OR traveling to the US.
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The NIGMS Human Genetic Cell Repository (NIGMS Repository) at the Coriell Institute for Medical Research supplies scientists with materials for accelerating cell and biomedical research.
The Coriell Institute for Medical Research is an independent, non-profit leader in life sciences research and guardian of one of the world's largest and most diverse biological collections.
This biobank is open to families located in the US or other countries.
More questions? Contact Us with subject line “Biobank Donation”
OPPORTUNITY
Share Your Story
Help Bring DHX30 to Life for Scientists.
Researchers tackling ultra-rare diseases are dedicated to unraveling complex genetics and neurodevelopmental challenges, but hearing and seeing real patients and their families truly transforms their drive.
By humanizing DHX30 and putting a face to the disease, families help turn abstract science into urgent, personal missions.
With patient or family permission, we showcase patient stories and photos on our Community page or share with researchers. If you would like to be highlighted, please Contact Us.
In the future, we’ll also try to plan meet-and-greets with our researchers, so stay in touch.
OPPORTUNITY(FILLED)
Neurogenetics Study
As of February 2026, this research opportunity has been filled. We will re-open it if things change. Our son Remy is part of a neurogenetics study at a top university in North Carolina (USA). The lab is looking for another DHX30 patient & their parent to add, and we wanted to see if any families would like to help advance this DHX30 research!
The researchers would like the patient & parent to travel to North Carolina (USA) for a clinical visit and blood draw
The patient needs to have a missense DHX30 variant (and ideally no other pathogenic mutations)
We can help you determine if your DHX30 variant is a fit, & if needed, connect you to a travel stipend
If you are interested in participating or just generally would like to hear more about the research, please Contact Us. We’re always happy to chat.
…and more to come.
The Rare Remy Foundation is a small but mighty team of volunteers working as fast and as efficiently as they can. As our work expands and evolves, we encourage you to follow along as we share additional ways for families to assist with DHX30 research.