If you're part of the 3q29 community—whether as a parent, caregiver, or someone living with 3q29 deletion or duplication syndrome—you may have heard about the "3q29 Registry". But what exactly is it? Why does it matter? And how can joining help not just your family, but potentially millions of people around the world?

Let's break down everything you need to know about the 3q29 Registry in plain language.

woman's hands holding up two connecting white puzzle pieces against a blurry blue background

What is a rare disease registry?

Rare disease registries are organized systems that aim to collect information about people with a specific disease, condition, or exposure. They're like specialized databases that help researchers understand these conditions better by gathering real-world information from people who are actually living with them.

Registries are usually designed to:

help researchers learn about how disease or condition progresses over time
support research on genetic, molecular, and physiological basis of rare diseases
establish a patient base for evaluating the safety and efficacy of medications, medical devices, and other interventions
connect affected patients, families, and clinicians

For rare diseases like 3q29 deletion and duplication syndromes, registries are particularly valuable because they help researchers overcome one of the biggest challenges in rare disease research—finding enough people to study.

About the 3q29 Registry

How it started

Dr. Jennifer Mulle, the world's leading 3q29 researcher and head of the 3q29 Project, had no idea what to expect when she created the 3q29 registry in 2014.

"When we first developed the registry, it was really because I didn't know how many people were even out there," she explains.

The registry began as a way to answer basic questions: How many people have 3q29 deletion or duplication? What are their experiences? Would the 3q29 community be interested in participating in research?

What Dr. Mulle discovered was remarkable. Unlike some rare disease communities that have become wary of research due to historical mistrust, the 3q29 community showed an extraordinary willingness to participate. "I was so surprised when people actually enrolled," she recalls. "When people trusted me enough to put their personal information in the registry and to tell me information about their kids, I felt deeply honored by that trust."

Since 2014, almost 300 families or individuals have joined the registry—an impressive number given how rare 3q29 deletion and duplication syndromes are.

The 3q29 Registry today

Over the years, the purpose of the registry has evolved along with the growing 3q29 community. Today, the registry serves two important functions:

Communication hub: Not everyone uses Facebook, and important information can easily get lost in social media feeds. The registry provides a direct line of communication for urgent updates about new treatments, research breakthroughs, or important opportunities. "If we have any exciting or urgent information, particularly about treatment or about stuff that we've learned, it's a way for us to contact you," Dr. Mulle explains.

Research readiness: The registry maintains a population of people who are ready to participate when research opportunities arise. With nearly 300 registrants, the registry demonstrates to pharmaceutical companies and funders that there is an engaged community ready to participate in clinical trials or studies.

What to expect when you join the registry

The sign-up process

Joining the registry involves completing questionnaires about your or your family member's experiences with 3q29 deletion or duplication syndrome. These questionnaires help researchers understand the range of symptoms associated with the two syndromes.

After signing up, you’ll receive an email that you’ll need to click to finalize your registration. (This cuts down on spam.) You'll be asked if you'd be willing to complete questionnaires in the future, but there are no set intervals. The registry just asks you this question so they know you'll consider it in the future.

Communication frequency

After joining the registry, you won't get bombarded with emails or information. Realizing families may have limited time and energy, the research team limits registry communications for truly important announcements like new research opportunities, significant findings, or critical updates about treatment options. Typically, this means occasional communications—perhaps once or twice a year—with newsletters sharing research progress or invitations to participate in new studies if available.

Language and accessibility

Currently, the registry is primarily available in English and best suited for people fluent enough to complete the questionnaires. However, if there is significant interest from speakers of other languages, translations could become available.

If you speak another language and are interested in participating, it's worth expressing that interest. Knowing there's demand for translations in specific languages helps the foundation make the case for funding translation work.

Your right to withdraw

Participation in the registry is completely voluntary, and you can withdraw at any time. Your autonomy and comfort level are paramount.

Commitment to privacy

One of the most common concerns people have about joining any registry is data security. It's a valid concern, and the 3q29 Registry takes several important steps to protect participant information:

Separation of identifiers: Names and identifying information are kept separate from phenotype data (the information about symptoms and characteristics). So for example, whenever study results are published, the phenotype data is represented by an identification number only.

Additional security measures: When publishing data, the research team takes extra precautions, such as modifying the identification numbers used in the registry so that even if someone accessed the published data and the registry, they couldn't connect the two without knowing what changes were made.

Firewall protection: The registry operates under robust firewall protection. While no system is completely impenetrable, there's little incentive for anyone to target a rare disease registry.

While the registry prioritizes data protection, it's important to understand that like all digital systems, it operates under standard security protocols rather than guarantees of absolute security.

How the 3q29 Registry helps people with 3q29

Staying connected to research

The most immediate benefit of registry participation is staying in the loop. If there's a breakthrough three years from now—a potential treatment, a new therapy, or a major research opportunity—registry members will be among the first to know.

"Even if 3 years from now, we have a breakthrough, we have a potential treatment, or there's a donor who wants to fund something, it lets us contact you and say, we have this opportunity," Dr. Mulle explains.

Priority access to research studies

When new research studies launch, the registry is where researchers look first for potential participants. Being in the registry gives you first access to participating in research, which often comes with its own benefits—whether that's access to new therapies, comprehensive evaluations, or the satisfaction of contributing to scientific understanding.

Building research momentum

Every person who joins the registry strengthens 3q29 researchers’ ability to attract funding and partnerships. When researchers or pharmaceutical companies see that there's an engaged community of nearly 300 people ready to participate, it makes 3q29 syndromes a more viable focus for research investment.

How the 3q29 Registry helps the general population

Here's something that might surprise you: your family's participation in the 3q29 Registry could help millions of people who don't have 3q29 deletion syndrome.

The key that unlocks schizophrenia

People with 3q29 deletion syndrome have an increased susceptibility to schizophrenia compared to the general population. Does that mean everyone with 3q29 deletion syndrome will experience this? Of course not. But this link makes the 3q29 community incredibly valuable for schizophrenia research. Dr. Mulle uses a powerful metaphor to explain this:

"It's like there's a lock, and they hold the key. By understanding schizophrenia in 3q29 deletion syndrome, we might be able to understand it in the general population."

There are people all over the world affected by schizophrenia and despite decades of research, scientists still don't fully understand its biology. That lack of understanding limits treatment options. But if researchers can understand how schizophrenia develops in people with 3q29 deletion syndrome and develop effective treatments, those treatments might work for people with schizophrenia who don't have the deletion. The biological processes happening in 3q29 deletion might also be happening in others, just through different pathways.

Dr. Mulle reflects on the potential impact:

"The 3q29 community really almost would be like the heroes of this. Despite the challenges many families face—or perhaps because they understand those challenges so deeply—people with 3q29 deletion have shown remarkable willingness to participate in research and help others. The rest of the world might be incredibly lucky."

Broader implications for neurodevelopmental conditions

The same principle applies to other conditions associated with 3q29 deletion and duplication syndrome, including autism and other neurodevelopmental presentations. Understanding these conditions in the context of a specific genetic condition can provide insights that help researchers understand them more broadly.

Taking the next step

If you're not yet part of the 3q29 Registry, consider whether now might be the right time to join. Yes, it requires some time and effort to complete the questionnaires. Yes, your inbox might already feel overwhelming. But your participation matters—both for advancing research that could help your own family and for contributing to scientific discoveries that could help millions.

The research team understands that families in the 3q29 community may already be dealing with a lot. They've designed the registry with that in mind, minimizing communication frequency and maximizing the meaningfulness of every request for participation. They're committed to being honorable stewards of your information and your trust.

To learn more about joining the registry or to sign up, visit the registry’s website here. Your voice matters and your questions are welcome.

FAQs

Yes, provided you have enough English language fluency to complete the questionnaires. If you do not, please still reach out to the research team indicating your interest so they know which languages to accommodate in the future.
You can withdraw from the registry at any time by contacting Dr. Jennifer Mulle at jennifer.mulle@rutgers.edu or the 3q29 Project at 3q29@cabm.rutgers.edu. Once they have the request in writing, the participant will be removed.
The research team does not share your registration status with anyone. They occasionally collaborate with other scientists, but with careful guardrails. Anyone who receives data from the registry must explain what they plan to do with it and how they'll use it. Most importantly, there's an expectation that the collaboration will be meaningful and result in publications or other work that benefits the 3q29 community. All privacy protocols, including the separation of identifying information, remain in place during research collaborations.
Dr. Mulle serves as the steward of the registry data. While the registry partners with a company that provides the infrastructure, the data that populates the registry belongs to Dr. Mulle and is used exclusively for the benefit of the 3q29 community. This stewardship comes with serious responsibilities around data protection and ethical use.
The registry is not technically a natural history study, though it could evolve into one. A formal natural history study typically involves longitudinal evaluation, where researchers follow participants from the point of diagnosis and track their experiences over time according to strict protocols. The registry currently collects some longitudinal data informally—asking participants if they'd be willing to complete follow-up questionnaires down the road. This preliminary work helps demonstrate to grant funders that there's an engaged population willing to participate in more formal longitudinal research.Item description
No, the registry is solely maintained by Dr. Jennifer Mulle and her research team. The 3q29 Foundation has no access to the registry.

Join registry now

About the 3q29 Foundation

The 3q29 Foundation’s mission is to create paths to treatments for 3q29 syndromes through funding research, community-building, and increasing access to information and resources. Find out more at 3q29.org.

For more research findings, head to our Research page with summaries and links to papers published by leading 3q29 researchers.

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Understanding the 3q29 Registry: Your Questions Answered