Katrin Männik’s research is focused on genetic factors and biological processes underlying neurodevelopmental traits and their co-morbidities in human population. She is particularly interested in structural changes in the genome called DNA copy-number variants or shortly CNVs. In this field, her recent work has mainly been focused on two aspects: First, how CNVs in the general population impact carriers’ health and affect individuals’ development. Second, she is aiming to better understand functional consequences of rare CNVs and the complex etiology of rare diseases caused by CNVs—collectively known as “genomic disorders”.
My plans for the fellowship period
Although individual differences in cognition and education achievement are known to be highly heritable, studies have only now begun to identify contributing factors. For example, our recent study showed that rare CNVs in the human genome are cumulatively a common health and developmental problem. They explain a substantial portion of population variance in education attainment and are associated with a complex set of developmental and health-related traits. By using a large collection of genotype and phenotype data from European biobanks, my first aim for the fellowship period is to create a map of rare CNVs and investigate their health burden in unselected populations. I also intend to integrate multiple layers of molecular, clinical and neuropsychological information of the 16p11.2 CNV carriers to better understand the biological basis how CNVs “act”. The 16p11.2 CNVs are among the most frequent genetic causes of neurodevelopmental problems (e.g., language delay, social or learning difficulties) and pose an excellent model for studying complex heritability of cognitive and behavioral traits, inter-individual variability (why carriers of the same genetic variant are affected differently), pleiotropy (how the same gene impacts different organs), and functional interactions between genes. During the fellowship period, I am also seeking to collaborate with social and educational scientists on aspects that would facilitate the translation of genetic findings into individualized developmental support, especially for less advantaged children.
How will my work change children’s and youth’s lives?
While translation of genetic information and individual risk scores for common diseases (e.g., diabetes, cardiovascular disease) has reached clinical practice, the complex nature of cognition and limited understanding of biological determinants has so far hampered a similar approach to support children’s learning based on their genetic variability. Expected results of my work will advance the understanding of mechanisms contributing to the complex etiologies of developmental problems and the impact of genetic factors on population variance in education attainment. In addition to their scientific value, these findings have a high translational potential in terms of personal risk evaluation and support plans for individuals with challenged development. For example, there are expected to be around 80,000 individuals with genomic disorders in Switzerland and education attainment of 1 person in 40 to be affected by rare CNVs. Our experience shows that adults who never received the attention of the medical genetic system often live autonomously but belong to a vulnerable fraction of society. I hope that my work will help raise awareness of children having genetically determined cognitive or behavioral issues, systematically identify at-risk children, and offer them support that takes into account genetically determined variability in their skills.