A research team from Sofia University “St. Kliment Ohridski,” consisting of Prof. DSc Milen Zamfirov and Assoc. Prof. Dr. Lyudmila Belenska-Todorova, has published a significant scientific study in the field of autism genetics.
The article, titled “Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants”, was published in the special issue Molecular Mechanisms of Autism Spectrum Disorder of the international peer-reviewed journal Cells (MDPI), which has a 5-year impact factor of 6 and is ranked Q1 in the category General Biochemistry, Genetics and Molecular Biology according to Scopus.
The study analyzed 22 Bulgarian patients with Autism Spectrum Disorder (ASD) through whole exome sequencing (WES), which allows the identification of single nucleotide variations (SNVs)—small but critical genetic changes. The genetic data were combined with detailed clinical observations, enabling the identification of variants related to neurobiological processes such as synaptic signaling, neuronal development, gene regulation, mitochondrial function, and cellular homeostasis. Particularly valuable are the newly discovered SNVs in genes such as SPATA5, CEP120, BBS5, SETD1A, TRAK1, VPS13B, and DDX3X, which are proposed as new candidate markers for the diagnosis of Autism Spectrum Disorders.
The results strongly support the hypothesis of a genetic basis for ASD and open new possibilities for personalized medicine, early diagnosis, and targeted therapies.