Fueling Research.
Empowering Families.
We are a family-led nonprofit dedicated to advancing research for SETD5 Syndrome, a rare genetic condition, and building a global community of support, hope, and action.
Our Impact So Far
"Every dollar brings us closer to answers."
A Rare Genetic Condition with a Growing Community
SETD5 Syndrome is caused by changes (variants or deletions) in the SETD5 gene. This gene plays a critical role in brain development, and when it doesn't work as expected, it can affect many areas of development. Common features include intellectual disability, autism spectrum disorder, speech and language delays, and behavioral differences such as attention and hyperactivity challenges. SETD5 Syndrome can also lead to a range of physical symptoms, which vary from person to person.
In most reported cases, the change arises spontaneously (de novo) and there is no prior family history of the condition, though familial cases do occur. When a parent carries the variant, it can be passed to a child. SETD5 Syndrome was first described in 2014, and the global community of diagnosed individuals is still growing as genetic testing becomes more widespread.
Every person with SETD5 Syndrome is unique. This is a condition of beautiful complexity, and our mission is to fully understand it and support those living with it.
Learn More About the ConditionScience Funded by Families, For Families
Your donations directly fund breakthrough research. Here is a snapshot of what is currently underway.
SETD5 Protein Function in Neural Development
Researchers are mapping how the SETD5 protein regulates gene expression in developing brain cells — a key area of investigation on the path toward targeted therapies.
Global SETD5 Patient Registry & Natural History Study
A first-of-its-kind longitudinal registry tracking development, health, and quality of life across hundreds of individuals with SETD5 Syndrome worldwide.
Drug Screening in SETD5 Mouse Models
Using validated animal models, scientists are testing candidate compounds that may restore some SETD5 function, a critical step toward clinical trials.
The Faces Behind Our Mission
SETD5 Syndrome Foundation was built by parents who refused to wait. Here is why we do this work.
"When our daughter was diagnosed at age three, we found other families online, we connected with researchers, and we realized: if we didn't build this foundation, no one would. Every dollar raised is a message to our kids: we see you, we believe in you, and we will not stop."
Every Gift Funds
a Breakthrough
Research doesn't wait. Neither do our families. A donation today keeps scientists at the bench and gives hope to hundreds of families around the world.
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What Is SETD5 Syndrome?
SETD5 Syndrome is a rare genetic neurodevelopmental condition caused by a change (variant) in the SETD5 gene, located on chromosome 3p25.3. SETD5 haploinsufficiency — meaning one working copy of the gene instead of the usual two — disrupts normal development in ways that can affect cognition, behavior, communication, and physical features.
Research suggests that SETD5 may help regulate how other genes are switched on and off during development. When one copy does not function correctly, a range of developmental, behavioral, medical, and physical features have been observed in affected individuals. No two individuals are exactly alike, and severity varies widely.
Most reported cases occur as a de novo mutation, meaning the change arose spontaneously and was not inherited from either parent. However, inherited cases are thought to account for an estimated 10–20% of known cases — and this figure may be an undercount. Because the same variant can affect people very differently (variable expressivity), a parent who carries a pathogenic variant may be unaffected or only mildly affected, which can lead to inherited variants of uncertain significance being underweighted during genetic evaluation. When a parent carries the variant, it can be passed to a child, sometimes with quite different impact.
Approximately 75+ individuals had been described in published case series as of 2025. However, the global community has grown to over 1,100 families worldwide, suggesting the true number of people affected is significantly higher than published figures reflect.
Quick Facts
Other Names You May Encounter
SETD5 Syndrome appears under several different names in medical literature, databases, and research. All refer to the same underlying condition.
Formal clinical classification used in genetics literature and medical databases.
A variation of the formal medical classification used in some clinical records.
A descriptive name used by the NIH's Genetic and Rare Diseases Information Center (GARD), referencing the primary symptoms and genetic mechanism.
Broader, more accessible terms used by patient advocacy groups and registries such as Simons Searchlight.
A closely related condition in which a small piece of chromosome 3 is deleted — a region that includes the SETD5 gene. Researchers believe the core features are primarily caused by loss of SETD5, and the clinical literature significantly overlaps.
Related conditionWhat Does SETD5 Syndrome Look Like?
SETD5 Syndrome presents differently in every person. The spectrum is wide: some individuals have significant support needs, while others have mild or moderate features — and some do not have intellectual disability at all. Notably, some parents who carry a pathogenic SETD5 variant are themselves unaffected or only mildly affected. No two individuals are exactly alike.
Learning & Cognition
Intellectual disability, global developmental delay, working memory difficulties, and challenges with reading, writing, and numeracy.
Speech & Language
Speech and language delay commonly reported. Some individuals are minimally verbal; others use AAC. Expressive language is often more affected than comprehension.
Behavior & Emotional Regulation
ADHD features, anxiety, sensory sensitivities, autism spectrum features, and a preference for routine are commonly observed.
Social & Adaptive
Social communication challenges and reduced awareness of danger have been reported in some individuals.
Neurological & Motor
Low muscle tone (hypotonia), gross and fine motor delays, coordination difficulties, sleep disturbances, and epilepsy in some individuals.
Medical & Physical
May include feeding difficulties in infancy, growth concerns, vision or hearing impairment, and heart concerns present from birth in some individuals.
Important: Features listed are drawn from published case series and reflect commonly reported characteristics. Not every individual will have all of these, and no two people are exactly alike. This is for educational purposes only and is not a substitute for medical advice. Please consult with a qualified genetics specialist or developmental pediatrician for personalized guidance.
Symptom Category Prevalence
Approximate reported prevalence across symptom categories, based on published research. Most individuals have features in multiple areas — these categories overlap significantly.
Prevalence estimates drawn from published SETD5 Syndrome research (2014–2024). Individual experience varies significantly — these figures describe reported rates across studied populations, not predictions for any individual. Categories are not mutually exclusive.
SETD5 Syndrome Families Around the World
SETD5 Syndrome has been identified on six continents. Every highlighted country has at least one confirmed case, and the true global count continues to grow as genetic testing expands.
From "Something Is Different" to a Diagnosis
Many families travel a long road before receiving a diagnosis of SETD5 Syndrome. Understanding this journey can help families advocate effectively.
Developmental Concerns Are Noticed
Parents or a pediatrician notice developmental delays (often in speech, motor skills, or social development), typically in the first 1-3 years of life.
Referral to Specialists
A referral to a developmental pediatrician, neurologist, or geneticist follows. Initial testing (MRI, metabolic panels) may be inconclusive.
Genetic Testing
Chromosomal microarray (CMA) or whole-exome sequencing (WES) may be ordered — these are among the types of genetic testing that can identify SETD5 variants or deletions. Your genetics team will advise which is appropriate.
Diagnosis Confirmed
A disease-causing change in the SETD5 gene — described on lab reports as "pathogenic" or "likely pathogenic" — is identified. Parents receive a formal diagnosis, often a moment of grief and relief at once.
Finding Community & Next Steps
Connecting with SETD5 Syndrome Foundation and other families is one of the most meaningful steps after diagnosis. Many families also find it helpful to ask their genetics team about follow-up care, reach out to early intervention programs, and connect with school support services. You are not alone, and you do not have to figure this out by yourself.
Questions Families Often Ask
Newly Diagnosed? You Are Not Alone.
We connect families with resources, community, and the latest research. Reach out; we respond to every message.
Contact the FoundationFrom Discovery to Treatment
SETD5 Syndrome was only first described in scientific literature in 2014. The field is young, which means there is enormous potential for rapid progress with the right investment.
Our foundation funds research across the full pipeline: from understanding the basic biology of SETD5, to modeling the condition in animal systems, to developing and testing candidate therapies. We work closely with our Scientific Advisory Board to ensure every funded project is rigorous, collaborative, and moves us closer to helping families.
We are also committed to family-centered research, which means patients and families have a voice in setting research priorities.
Funded Research Projects
These projects represent the cutting edge of SETD5 Syndrome science, made possible by families like yours.
SETD5 Protein Function in Neural Development
Mapping how the SETD5 protein controls which genes are switched on or off during early brain development, and identifying which other genes it influences.
Global Patient Registry & Natural History Study
Longitudinal tracking of development, health outcomes, and quality of life in individuals with SETD5 Syndrome across 18+ countries.
Drug Screening in SETD5 Mouse Models
Testing hundreds of existing approved drugs and new compounds to identify any that may improve SETD5-associated features in mouse models — a step toward future clinical trials.
Variant Type and Clinical Features Study
Investigating whether the type or location of a person's SETD5 change is related to the severity or specific features they experience.
Human Cell Models of SETD5 Syndrome
Using stem cells derived from people with SETD5 Syndrome and converting them into brain cells, so researchers can study the condition in human cell systems and test potential treatments.
Behavioral Intervention Study
A prospective study examining the effectiveness of tailored behavioral and communication interventions in children with SETD5 Syndrome ages 2-8.
How Far We Have Come
The SETD5 Syndrome field has progressed rapidly in a short time. Here is the story of that progress.
SETD5 First Linked to Intellectual Disability
Early research identifies SETD5 variants in individuals with unexplained intellectual disability — a preliminary finding that would lead to the condition being formally characterized the following year.
SETD5 Syndrome Formally Described
Grozeva et al. publish the first paper formally characterizing SETD5 haploinsufficiency as a distinct syndrome.
First Family Support Group Formed on Facebook
Families from around the world connect for the first time, forming the community that would become the foundation of this organization.
First Mouse Model Validated
A mouse model carrying one changed copy of the Setd5 gene is validated, showing behavioral and neurological features similar to those seen in humans with the condition.
SETD5 Syndrome Foundation Formed
Families launch the foundation to accelerate research and provide community support to a growing global patient population.
Our Scientific Leadership
Our SAB comprises leading scientists in neurodevelopmental genetics, epigenomics (the study of how genes are switched on and off), and rare disease therapeutics who guide our research strategy.
Dr. Amy Chen, PhD
Dr. Mark Patel, MD
Dr. Jane Williams, PhD
Dr. Rafael Torres, MD
Interested in Collaborating?
We welcome inquiries from researchers interested in SETD5 Syndrome. Contact our research team to explore funding and collaboration opportunities.
Get in TouchFund the Next Breakthrough
Our next round of research grants opens soon. Your gift today helps us say "yes" to the science that matters most.
Donate to ResearchWhere to Next?
Understand the Condition
Learn what SETD5 Syndrome is, how it is diagnosed, and what it means for families.
Explore the ConditionSupport the Science
Every dollar we raise goes directly toward the projects you just read about.
Donate to ResearchChoose Your Impact
The vast majority of every gift goes directly to SETD5 Syndrome research, family programs, and advocacy. We are a lean, volunteer-led organization committed to keeping our overhead as low as possible.
Covers laboratory supplies for one day of research.
- Foundation newsletter
- Tax receipt
- Research updates
Funds one week of a research technician's time in the lab.
- All Supporter benefits
- Donor recognition
- Annual impact report
Sponsors one full month of a graduate student researcher's fellowship.
- All Advocate benefits
- Named in annual report
- Invitation to research briefing
Funds a pilot research project from concept to preliminary data.
- All Trailblazer benefits
- Named research opportunity
- Direct researcher connection
Want to give a different amount?
Give a Custom AmountBecome a Research Champion
Monthly donors are the backbone of our research program. A consistent, predictable stream of funding allows us to commit to multi-year research projects, the kind that produce real results.
Even $20/month adds up to $240 per year, enough to fund a full week of laboratory analysis.
Start a Monthly GiftEvery Contribution Counts
Honor & Memorial Gifts
Celebrate a loved one or honor someone's memory with a meaningful gift that funds research.
Workplace Giving
Many employers match charitable donations dollar-for-dollar. Check if your employer participates.
Planned Giving
Leave a legacy that outlasts you. Contact us to learn about including the Foundation in your estate plan.
Corporate Partnerships
Partner with us on research sponsorship, event sponsorship, or cause-marketing campaigns.
Get Involved Your Way
Fundraise For Us
Run a race, host a dinner, celebrate a birthday and turn any moment into a fundraiser. We'll give you everything you need to get started.
Start a FundraiserVolunteer With Us
We need help with events, social media, family outreach, and more. Share your skills and time to help us grow our mission.
VolunteerShare Your Story
Your experience with SETD5 Syndrome is powerful. Sharing it raises awareness, helps newly diagnosed families feel less alone, and drives donations.
Share Your StorySETD5 Syndrome Foundation is a registered 501(c)(3) nonprofit organization. All donations are tax-deductible to the extent permitted by law. EIN: [Your EIN Here]
How We Got Here
When our children were diagnosed with SETD5 Syndrome, we received a name but little else. There was no patient registry, no foundation, no family community to speak of. Research was scattered, slow, and underfunded.
A group of parents from the United States, Europe, and Australia came together with a single conviction: that a rare disease this newly understood could move from mystery to treatment faster than anyone thought possible, if families organized, raised money, and partnered directly with science.
We hired no executives. We kept our overhead low. We put every dollar toward research and families. And we built the SETD5 Syndrome Foundation. We are just getting started.
What We Stand For
Our Mission
To accelerate research into SETD5 Syndrome and support the global community of individuals, families, and clinicians affected by this rare genetic condition.
Our Vision
A world where every person with SETD5 Syndrome has access to effective treatments, early diagnosis, and a thriving community of support.
Science First
We fund rigorous, peer-reviewed research guided by our Scientific Advisory Board.
Family-Led
Every decision is made with the lived experience of families at the center.
Global & Inclusive
SETD5 Syndrome affects families everywhere. Our community has no borders.
Board of Directors
Our board is entirely composed of parents, caregivers, and allies who volunteer their time, skills, and passion to this mission.
Laura Biazon
Kate Carr
Samantha Cotter
Amelia Marie
Jesiree Mendez
Taryn Mildenhall
Mandy Wittenberg
Working Groups
Our work is organized into five focused working groups, each led by board members and volunteers contributing their expertise to advance the Foundation's mission.
Community Support
Developing family resources, peer support programs, and an online community where families affected by SETD5 Syndrome can connect and find one another.
Medical & Scientific
Recruiting a Scientific Advisory Board, cultivating researcher relationships, and laying the groundwork for a patient registry to accelerate discovery.
Governance & Legal
Overseeing incorporation, bylaws, and 501(c)(3) status. Building the legal foundation that allows us to operate with integrity and accountability.
Fundraising & Finance
Building a sustainable fundraising strategy, pursuing grants, and establishing the donor database and financial infrastructure to fuel our work.
Communication & Branding
Shaping the Foundation's identity through the website, social media presence, visual branding, and the Foundation's name and voice in the world.
We Would Love to Hear From You
Whether you are newly diagnosed, a researcher, a donor, or a journalist, we respond to every message.
Send Us a Message
Where to Next?
Learn About SETD5 Syndrome
Understand the condition and find resources built for families navigating a new diagnosis.
Explore the ConditionExplore Our Research
See the science driving better outcomes and the researchers we partner with around the world.
View ResearchConnect, Learn, and Find Your People
Trusted resources for families navigating a SETD5 Syndrome diagnosis, from community spaces where you can connect with other families to research registries where your participation makes a difference.
SETD5 Syndrome Facebook Group
The SETD5 Syndrome community on Facebook is where many families first found each other. Connect with parents and caregivers from around the world who understand what you are going through.
Join the GroupSETD5 Syndrome Community
A parent-built resource hub created to help families understand a SETD5 Syndrome diagnosis in clear, practical language. It brings together explanations, a family toolkit, medical terms, research summaries, and more, so parents and caregivers have one place to start. Designed to make complicated information feel more approachable, especially for families trying to figure out next steps.
Visit setdsyndrome.liveSimons Searchlight
A research program studying rare genetic conditions including SETD5 Syndrome. Families can enroll to contribute to natural history research and be notified of new studies.
Visit Simons SearchlightNot Sure Where to Start?
If you are newly diagnosed or feeling overwhelmed, reach out directly. We connect every family with the right resources for their situation.
Contact the FoundationScientific Collaborators
We work alongside leading research institutions dedicated to understanding SETD5 Syndrome and advancing therapeutic development.
Boston Children's Hospital
Rare Neurodevelopmental Research Program. Partnering on natural history data collection and clinical characterization of SETD5 Syndrome.
Visit WebsiteUCSF Department of Pediatric Genetics
Collaborating on SETD5 variant functional studies and contributing to our patient registry development and data-sharing framework.
Visit WebsiteBroad Institute
Program in Medical and Population Genetics. Supporting genomic data analysis and contributing expertise in epigenomic research.
Visit WebsiteRare Disease Allies
Organizations that amplify the voices of rare disease families and help us navigate the policy, funding, and advocacy landscape.
NORD — National Organization for Rare Disorders
SETD5 Syndrome Foundation is a member organization of NORD, connecting our families to a broader rare disease network and advocacy resources.
Visit WebsiteGlobal Genes
Partnering to connect SETD5 Syndrome families with tools, resources, and a global community of rare disease advocates working toward a cure.
Visit WebsiteRare Disease Legislative Advocates
Supporting our efforts to engage lawmakers on research funding, insurance access, and policies that directly affect rare disease families.
Visit WebsiteFamily & Community Organizations
Groups that connect directly with SETD5 Syndrome families and provide on-the-ground support, education, and community.
SETD5 Families International
A peer-run family network connecting caregivers worldwide. We partner to ensure families find connection and support from day one of their diagnosis.
Visit WebsiteUnderstood.org
Partnering to ensure families of children with SETD5 Syndrome have access to trusted educational and learning resources tailored to neurodevelopmental conditions.
Visit WebsiteExample Corporate Sponsor
Providing annual funding support and employee engagement opportunities that directly fuel our research grants and family programming initiatives.
Visit WebsiteThese listings are examples shown for layout review. Final partners will be added before launch.
Let's Build Something Meaningful Together
The SETD5 Syndrome Foundation partners with organizations that share our belief that no family should navigate a rare disease alone — and that better science leads to better lives.
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Advance Rare Disease Research Co-fund studies, share datasets, and accelerate discovery for families waiting on answers.
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Reach a Dedicated Community Connect with an engaged network of families, clinicians, and researchers who trust this Foundation.
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Demonstrate Social Impact Align your organization with a mission that makes a measurable difference for children and families.
Ready to Explore a Partnership?
We'd love to learn about your organization and find ways to work together toward shared goals.
Start the Conversation Learn more about our mission →
Make an Impact
Whether you're an individual donor, a company, or a community group, there's a meaningful way for you to support SETD5 Syndrome research and families.
One-Time Donation
A direct gift of any size makes an immediate difference — funding lab supplies, research fellowships, and family resources.
Donate NowMonthly Giving
Recurring gifts provide the Foundation with stable, predictable funding that lets us plan research grants and programs with confidence.
Give MonthlyCorporate Giving
Partner with us on research sponsorship, matching gift programs, or cause-marketing campaigns that make a visible difference for rare disease families.
Learn MoreFundraise on Our Behalf
Some of our most powerful fundraising comes from families and friends who take the mission into their own communities.
Birthday & Milestone Fundraisers
Turn a birthday, anniversary, or milestone moment into an act of generosity. Ask friends and family to donate to SETD5 Syndrome Foundation in your honor.
Team & Group Fundraising
Organize a run, bake sale, auction, or community event and donate the proceeds. We'll provide resources, materials, and support to help make your event a success.
Tribute & Memorial Giving
Honor someone you love by making a gift in their name, or invite others to give in lieu of flowers or gifts. A meaningful way to celebrate a life or mark a loss.
Ready to Make a Difference?
Every contribution — no matter the size — moves the needle for families living with SETD5 Syndrome.
Donate NowVolunteer Opportunities
We welcome volunteers from all backgrounds — parents, professionals, students, and advocates. Your skills and time make a direct difference.
Family Support Network
Help newly diagnosed families navigate the early days. As a peer support volunteer, you offer connection, empathy, and lived experience to families who need it most.
Content & Communications
Writers, editors, designers, and social media volunteers help us tell our story, reach more families, and communicate the science in plain language.
Events & Fundraising
Help plan, promote, and run our fundraising events — from virtual awareness campaigns to in-person community gatherings.
Research Advocacy
Support our efforts to engage the scientific community — helping with patient registry outreach, research survey distribution, and data collection coordination.
Professional Skills
Lawyers, accountants, marketers, web developers, and other professionals can contribute pro bono services that help the Foundation grow and operate effectively.
Ambassador Program
Represent SETD5 Syndrome Foundation in your community. Ambassadors raise awareness, share our story, and recruit other supporters to the mission.
Express Your Interest
Fill out the form below and we'll be in touch with opportunities that match your skills and availability.
Questions About Volunteering?
Reach out and a member of our team will be happy to talk through how you can get involved.
Contact Us