Award for research on childhood hereditary autism: Tobias Böckers honored for findings on Phelan-McDermid Syndrome

The US non-profit organization CureSHANK recently honored Prof. Tobias Böckers, research group leader at DZNE’s Ulm site and head of the Institute of Anatomy and Cell Biology at the University of Ulm, with the 2025 “Lab of the Year” award. The award was presented at the 2^nd Annual Phelan-McDermid Syndrome Drug Development Symposium in Barcelona and recognizes the groundbreaking research conducted by Prof. Böckers and his team on Phelan-McDermid Syndrome (PMS) – a rare genetic disorder caused by mutations in a specific gene, the so-called SHANK3 gene, which affects even young children. CureSHANK was founded by parents whose children are affected by PMS and who are committed to promoting research and the development of therapies worldwide.

Research into SHANK3 sheds light on a rare disease

Böckers' research focuses on so-called Shank proteins, in particular SHANK3. This protein plays a key role at the junctions between neurons – the synapses. There, it ensures that neurons are properly connected to each other, which is essential for signal transmission in the brain. If there is a hereditary defect in the SHANK3 gene – as is the case with PMS – this process is disrupted: The SHANK3 protein is either produced incorrectly or is significantly downregulated, with serious consequences for signal transmission in the brain. Typical symptoms of PMS appear in infancy, including behaviors from the autism spectrum, severe intellectual disability, poor or absent language development, epileptic symptoms, sleep disorders, and pronounced muscle weakness.

Böckers’ team discovered that the SHANK3 protein is not only found in the brain, but also in motor neurons (which control muscle cells) and skeletal muscle. This could explain why many people with PMS suffer from muscle weakness. They were also able to show that the white matter in the brain is significantly altered in people with PMS. These findings suggest that PMS is not only associated with impaired brain development, but also with impaired degradation processes, as is known from other neurodegenerative diseases.

Therapeutic hope and broader significance

Böckers’ team is researching a possible future treatment approach using a novel, experimental drug: this so-called antisense oligonucleotide (ASO) is designed to specifically influence the production of the SHANK3 protein in the body, thereby directly targeting the cause of PMS.

Böckers’ research therefore not only offers prospects for new treatment options, but also provides important findings on other neurodegenerative diseases characterized by synaptopathies (disorders of signal transmission between neurons), such as amyotrophic lateral sclerosis (ALS), which his team is also intensely researching.

July 2025