What will it take to develop treatments for Schaaf-Yang syndrome? Researchers need to understand what the condition does inside cells, find ways to address those changes, and determine whether potential treatments make a difference.
At the 2026 FPWR conference, Dr. Christian Schaaf shared progress across each of these areas. His presentation connected discoveries about the MAGEL2 gene with the questions families care about most: What could help my child? What comes next? How can we move research forward?
Watch the full presentation below, or read on for key takeaways.
Download the full video transcript
SYS is caused by changes in the paternal—the father’s—copy of the MAGEL2 gene. These changes typically cause the instructions for making the MAGEL2 protein to stop early, producing a shortened, or “truncated,” protein.
An important question has been whether SYS results only from losing the protein’s normal function, or whether the shortened protein also causes problems of its own.
Dr. Schaaf described research suggesting that the shortened protein can accumulate in the cell’s nucleus and disrupt normal cell function. This finding helps explain why understanding SYS requires more than identifying what is missing.
For treatment development, that distinction is important. Restoring normal MAGEL2 function may need to be paired with reducing the effects of the altered protein.
Researchers are also studying relationships between the remaining protein’s length and the severity of certain symptoms. These patterns may help them better understand SYS, but they do not predict an individual child’s future. People with the same genetic change can still have very different experiences.
Some of the most important progress happens before a potential treatment can be tested.
Dr. Schaaf described advances in detecting both the full-length and shortened MAGEL2 proteins, something that has been technically difficult for researchers. He also highlighted a possible new antibody that, if validated, could help scientists study the protein more directly.
An antibody in this context is a laboratory tool, rather than a proposed treatment. Having reliable ways to detect MAGEL2 could help researchers measure whether an experimental approach is having its intended effect.
Other tools include a rat model of SYS and neurons developed from donated human cells. Each offers a different window into the condition.
The rat model allows researchers to study feeding, growth, communication, and social behavior in a living system. Cell models allow them to examine how neurons develop and function. Together, these tools help researchers investigate what goes wrong and create opportunities to test potential ways to address it.
Oxytocin is involved in several functions relevant to SYS, including feeding and social behavior. But Dr. Schaaf described a finding that complicates the idea that SYS simply involves too little oxytocin.
In the SYS rat model, researchers found increased amounts of oxytocin. Their findings suggest that it may accumulate inside cells rather than being released properly to help neurons communicate.
That raises a different research question: Is the problem how much oxytocin is made, how it is released, or both?
These are findings from an animal model, and more work is needed to understand what they mean for people with SYS. They provide an important direction for investigating the underlying biology.
Dr. Schaaf also discussed families’ experiences with intranasal oxytocin and interest in more formal studies. He emphasized that reports from families, while valuable, do not replace controlled clinical trials.
The presentation covered approaches at different stages—from treatments already being discussed in clinical care to experimental strategies aimed at the genetic cause of SYS.
Growth hormone: Dr. Schaaf reviewed findings and family reports suggesting benefits for body composition and motor development. He emphasized that potential benefits extend beyond height to building muscle and reducing fat mass. He also discussed the importance of sleep evaluation and individual medical assessment when considering treatment.
Oxytocin: Researchers are interested in its potential to help with early feeding and swallowing difficulties. Questions remain about who might benefit, when treatment would be most useful, and how to evaluate its effects.
Reducing production of the shortened protein: Researchers are developing antisense oligonucleotides, or ASOs—molecules designed to target RNA, the instructions cells use to make proteins. The goal is to reduce production of the altered MAGEL2 protein.
Changing which gene copy is active: The maternal copy of MAGEL2 is normally silenced. Researchers are exploring ways to activate that copy, as well as approaches that could potentially silence the altered paternal copy while activating the maternal one.
These genetic strategies remain experimental. Dr. Schaaf described reasons for optimism alongside the substantial work still needed to develop and evaluate them.
During the Q&A, a parent asked a question many families share: If some studies focus on infants, where does that leave older children?
Dr. Schaaf emphasized that his team’s interest extends to the entire SYS community.
He explained that some challenges may arise during early brain development, while others may reflect ongoing disruptions in how neurons function. Understanding those ongoing disruptions could create opportunities to help beyond infancy, although research is needed to determine what is possible.
He also called for greater participation from adults with SYS. Learning about their experiences can help researchers understand how the condition changes over time and what families and clinicians should watch for.
Dr. Schaaf highlighted the importance of the SYS Registry—not simply as a collection of surveys, but as a way to understand people’s experiences over time.
Information about development, symptoms, and health changes can help researchers identify patterns, choose meaningful outcomes for studies, and provide context for interpreting future trial results.
Keeping registry information current is a concrete way families can contribute to treatment development.
Throughout the presentation, Dr. Schaaf acknowledged that research cannot move quickly enough for families waiting for answers. His update nevertheless showed how the field is building the knowledge and tools needed to pursue treatments: a clearer understanding of MAGEL2, better models for studying SYS, and several approaches to investigate.
That progress depends on continued collaboration among researchers, clinicians, families, and the supporters who help make the work possible.
Help researchers understand SYS over time
Your family’s experiences can help researchers understand how SYS changes with age and prepare for future clinical trials. Join the SYS Registry—or update your surveys if you’re already participating.
Dr. Christian Schaaf with individuals with Schaaf-Yang syndrome and their families at the 2026 FPWR conference.