VKC member Maria Niarchou, Ph.D., is research assistant professor of Genetic Medicine. She is a genetic epidemiologist with a background in Psychology trained in the use of Electronic Health Record (EHR) data for genetic and epidemiological research. She currently works at Vanderbilt’s Genetic Institute, and her research mostly focuses on the genetics of neurodevelopmental disorders including attention deficit hyperactivity disorder (ADHD) and autism. Using Vanderbilt’s EHR data, Niarchou has investigated medical conditions associated with genetic scores for autism and ADHD across genetic ancestries and sexes. She has also tested genetic pathways associated with sleep problems within the EHR.
In the interview below, Niarchou shares what inspires her research, what she has learned through her work, and how membership with the Vanderbilt Kennedy Center helps her achieve her goals.
Tell us about your attraction to developmental disabilities research.
During my undergraduate studies in Psychology at the University of Athens in Greece, I worked as an assistant psychologist at the Children’s Psychiatric Hospital in Athens for three years. My duties included assessing children with developmental disabilities, documenting family case histories, and administering psychometric tests. I found this work extremely fulfilling, particularly the opportunity to connect with the children and their families. These experiences highlighted for me the need for further research in the areas of developmental disabilities and neuroscience.
This realization has shaped my research career and led to a master’s degree in Neuropsychology from the University of Bristol and a Ph.D. from Cardiff University in the UK, where I examined the relations between behavioral and cognitive problems in children with a genetic syndrome called 22q11.2 Deletion Syndrome. After my Ph.D., I furthered my training in genetic epidemiology and in the use of Electronic Health Record (EHR) data for genetic and epidemiological research. While I have been involved in a variety of research projects, developmental disabilities research remains a significant focus of my work.
What are your current research interests and what challenges do they address?
Along with my collaborator and mentor Dr. Lea Davis, we were recently awarded the Vanderbilt Kennedy Center Hobbs Award to leverage Vanderbilt’s Electronic Health Records (EHR) and biobank to examine sex differences in the timing of developmental milestones and the potential links with the timing of autism diagnosis in the EHR. This project is one of the first efforts to test the interplay between sex, autism genetics, and the timing of developmental milestones, as well as the first effort to extract and identify the developmental milestones in the EHR. While developmental milestones are routinely assessed during the well child visits in pediatrics clinics, normative data are sparse. Moreover, the majority of studies in the field of intellectual disabilities are cross-sectional, include a small number of children spanning wide age ranges, and rely on parents’ retrospective recall.
By leveraging Vanderbilt’s EHR, we have a unique opportunity to overcome these challenges. The use of EHR data not only allows for significantly larger sample sizes of specific developmental disabilities (e.g., longitudinal data on 197 individuals with Down syndrome), but also enables the integration of these milestone data with the extensive range of longitudinal health information available within the EHR. Furthermore, thanks to the Hobbs Award and the VKC, we will have the opportunity to generate a resource of developmental milestones in the EHR for all the investigators at Vanderbilt to enhance research on developmental disabilities.
Do you have a story about a research participant or a breakthrough that illustrates the impact of your work?
Sleep problems have been reported in 44 to 86 percent of autistic children as compared to non-autistic children, with insomnia (difficulty falling asleep, staying asleep, short sleep duration, or early morning awakening) presenting as the most common sleep problem. Despite the importance and frequency of sleep disturbance in the autism population, the mechanisms underlying risk of sleep problems in autism remain poorly understood and relatively understudied.
Along with Dr. Davis and Dr. Beth Malow, we received a grant from Autism Speaks to test the genetic contribution of insomnia genetics in the non-autistic population to insomnia genetics in autistic individuals. Our study was the first to study whether polygenic scores of insomnia or autism were related to insomnia, and whether the circadian genes were associated with insomnia in autistic people. To answer these questions, we employed the phenotypically and genotypically unique MSSNG dataset, that is enriched for individuals with autism. We also incorporated data from the Vanderbilt University Biobank (BioVU), including validated autism diagnoses as well as carefully curated phenotyping on insomnia in autistic patients.
Overall, we did not find evidence for strong effects of genetic scores influencing sleep in people with autism, however, it is also possible that genetic factors may play a smaller role in sleep problems, which we were underpowered to detect.
What are your reasons for becoming a Vanderbilt Kennedy Center (VKC) Member?
It is a great privilege for me to be a VKC member, as it provides me with access to expert support and resources that are essential for conducting high-quality research. The scientific cores at VKC are particularly noteworthy, as they offer guidance and assistance at every stage of the scientific process. I also love being part of a vibrant and dynamic community of researchers and other stakeholders who are dedicated to advancing knowledge and improving lives.
