Dr. Ferdinand Althammer is a neuroscientist with a deep commitment to understanding the biology behind Schaaf-Yang syndrome (SYS) — and to ensuring that families remain at the heart of that work.
“I am a neuroscientist by training, with a particular focus on the hypothalamic neuropeptide, oxytocin,” Dr. Althammer explains.
During the COVID-19 pandemic, he was working as a postdoctoral researcher at the Center for Neuroinflammation and Cardiometabolic Diseases at Georgia State University. At the same time, he and his wife had recently welcomed their first son. Being far from family during that period was difficult.
“Living in the United States without family support and being unable to see our relatives for over two and a half years was challenging,” he shares.
As the family prepared to return to Germany, Dr. Althammer was also eager to establish his own research group. He reached out to Professor Christian Schaaf, and the connection was immediate. “Prof. Schaaf supported me, and together we developed the core ideas for my future research work,” he says. He was later awarded the prestigious Emmy Noether grant to investigate the role of oxytocinergic signaling in SYS.
Oxytocin is best known for its role in childbirth and lactation, but it also plays a profound role in social behavior and connection. While it has been studied extensively in Prader-Willi syndrome, its role in SYS has remained largely unexplored.
“My research aims to understand the role of oxytocin signaling in SYS,” Dr. Althammer explains.
Using a novel transgenic rat model of the disorder, his team has identified a dysfunctional oxytocin system that may contribute to several key features of SYS. They are now working to better understand the mechanisms disrupting this system and are conducting treatment studies in their animal models.
"We are aware that clinical studies in such a rare disease are inherently challenging,” he says, “but ultimately, our goal is to translate these findings to SYS patients.”
To complement laboratory research, Dr. Althammer and his team maintain close contact with families, including those using intranasal oxytocin. “Parents have reported notable improvements in their children,” he shares. “While such anecdotal evidence must be interpreted with caution, it is nonetheless highly encouraging and serves as a strong motivation to further advance our research.”
One development Dr. Althammer is especially excited about is the SYS patient registry.
“I am very excited about the SYS patient registry, as it provides a unique opportunity for families to share their experiences both with one another and with us as researchers,” he says.
Given the rarity of SYS, shared data is essential. “Maintaining close contact with families is incredibly important to us,” he explains. Regular engagement helps his team understand which aspects of their research — and which potential symptom improvements — are most relevant and impactful to the daily lives of people with SYS and their families.
Dr. Althammer hopes families can clearly understand the core ideas behind his team’s work. “We make a dedicated effort to communicate our research in an accessible way,” he says, particularly during the annual SYS Family Conference.
But his vision extends beyond understanding. “Our ultimate goal goes far beyond understanding,” he explains. “We hope that our basic research will lay the foundation for the development of targeted therapies that can improve the quality of life of individuals with SYS.”
This includes not only alleviating symptoms for affected individuals but also easing the daily challenges faced by caregivers and families.
“We are very aware that progress in rare disease research can take time,” he adds. “But we are committed to ensuring that our work remains closely aligned with the needs and priorities of the SYS community.”
Scientific progress can be gradual, and setbacks are inevitable. “While we would like to move much faster and accomplish far more, scientific research is often a gradual and demanding process,” Dr. Althammer reflects.
What keeps him going is the community.
“Meeting families once a year at the FPWR meeting in the United States is a truly unique and invaluable experience that cannot be overstated,” he says. Staying connected throughout the year reinforces that the work is meaningful. “This strong sense of purpose is what drives and motivates me in my research every day.”
Dr. Althammer encourages families to stay engaged and connected.
“You are our most valuable resource in this research,” he says. He emphasizes the importance of sharing detailed information about individual symptoms — both physician-assessed and parent-observed — to help researchers better understand genotype-phenotype relationships.
“These insights help us explain why certain mutations lead to more severe outcomes than others, which remains one of the central questions driving our research.”
Above all, he wants the SYS community to know how deeply respected it is.
“We are truly impressed by the strong sense of community that has developed over the years,” he shares. “This community is truly exceptional, and we feel both honored and proud to be part of it.”
We encourage every SYS family to consider joining the SYS Registry, as the information you share not only advances overall understanding of Schaaf-Yang syndrome but directly supports Dr. Althammer’s ongoing research efforts to develop more targeted and meaningful treatments.