Prof. Cirak served as an Emmy-Noether Research Group Leader under the German Research Foundation (DFG). This prestigious award allows outstanding young scientists to establish independent research groups, and it reflects Prof. Cirak’s scientific excellence. This recognition significantly contributed to the establishment of his research profile and his appointment to the Professorship of Neuropediatrics and Social Pediatrics at the University of Ulm

A central research focus of the lab is the identification and characterization of gene mutations that cause muscular dystrophies and other myopathic conditions. Prof. Cirak discovered mutations in the *ISPD (CRPPA)* gene, which are a common cause of congenital and limb-girdle muscular dystrophies (Cirak et al., 2013).

Significant discoveries have also been made in severe congenital myasthenic syndromes caused by mutations in the choline transporter gene. These mutations disrupt the transport protein and provide new insights into the molecular mechanisms of neuromuscular diseases (Wang et al., 2017).

Prof. Cirak’s lab has made significant progress in developing gene therapies and RNA-based therapies, particularly for Duchenne muscular dystrophy (DMD). A groundbreaking study from his time as a fellow at the UCL Institute of Child Health demonstrated that exon-skipping using phosphorodiamidate morpholino oligomers can restore dystrophin expression in DMD patients (Cirak et al., 2011). Further research in his lab showed that shorter morpholino oligomers could enhance the efficiency of this exon-skipping therapy (Akpulat et al., 2018). This work lays the foundation for innovative treatment approaches for DMD.

Prof. Cirak’s lab is heavily involved in translational research, aiming to convert scientific discoveries into clinical applications. The lab conducts studies on natural disease progression and biomarker discovery to improve therapy monitoring and the development of personalized treatment strategies. A pivotal study in collaboration with the CINRG consortium examined genotype-phenotype correlations in DMD and their impact on loss of ambulation, providing new insights into treatment strategies for this condition (Bello et al., 2016).

The lab has also published groundbreaking work on rare genetic diseases. For example, the genetic and clinical features of fetal akinesia were comprehensively described, aiding in the better diagnosis and treatment of this severe condition (Pergande et al., 2019). Additionally, a significant discovery was made regarding mutations in the ADPRHL2 gene, which lead to a stress-induced epileptic ataxia syndrome (Ghosh et al., 2018). These findings expand knowledge on rare neurodegenerative diseases and offer new therapeutic approaches.

Prof. Cirak’s lab at the University of Ulm is at the forefront of research on neuromuscular and pediatric neurodegenerative diseases, both in Germany and internationally. The lab’s work encompasses the discovery of disease genes, the investigation of molecular mechanisms, and the development of innovative gene therapies. By studying biomarkers and disease progression, the lab significantly contributes to the improvement of diagnostics and treatment for patients with rare and complex genetic disorders. The Emmy-Noether fellowship, awarded before his appointment in Ulm, underscores Prof. Cirak’s scientific excellence and dedication to advancing international research.