The School of Medicine sends a big congratulations to PhD student, Angela Martinelli, who recently published a paper, based on her PhD thesis, in the Human Molecular Genetics journal. The study focused on developmental language disorder, diagnosed when children show unexpected problems with expressing and understanding spoken language. This is a common condition, with studies suggesting that at least 5% of children experience difficulties, often co-occurring with other neurodevelopmental disorders such as dyslexia and ADHD.
The study identified a rare non-synonymous variant in ATP2C2, a gene that was previously implicated in language disorders. The variant was discovered as a result of ongoing exome sequencing studies, conducted as part of an international collaboration of researchers. Angela followed up on this finding by genotyping the variant in large cohorts of individuals diagnosed with language-related disorders. The study uncovered that the variant increased the risk for language impairment in clinical samples. Furthermore, carriers of the variant in the general population tend to have lower scores on language-related tests.
Dr Martinelli said that “the University of St. Andrews offered the opportunity to work in a very stimulating environment, acquire a competitive international profile, develop new professional skills, and interact with outstanding researchers”. She added that the outcome of her thesis was a result of a wonderful collaboration with researchers across the world. Angela thanked her PhD supervisor, Dr Silvia Paracchini, stating that she is very grateful for the valuable support and advice provided throughout her study.
Dr Paracchini said that she is “really pleased to see this paper published, as the culmination of a few years of hard work! Angela demonstrated massive commitment to this project, particularly in the context of the challenges that COVID-19 and lockdown presented. The study highlights how complex the genetics of language disorders is and that cross-disciplinary and international collaborations are necessary to advance the field. Although we miss Angela in the lab, we wish her every success in her future career”.
The study was published on the 16th of April. It was supported by an Act ion Medical Research Action/The Chief Scientist Office (CSO), Scotland grant (GN2614) and a Cunningham Trust grant