Neurodevelopmental disorders (NDDs) affect approximately 67 million individuals in the USA, with intellectual disabilities (ID) impacting 10.5% of this population. Globally, 1-3% of people have ID diagnoses, with increasing incidence. Comprehensive genetic diagnostic methods for NDDs and IDs are not yet fully explored. The rise in genomic testing through chromosomal microarrays (CMA) and whole genome sequencing (WGS) has led to more "variants of unknown significance" (VUS) being identified. Our research project hypothesizes that specific protein-protein interaction networks are common between established microdeletion/microduplication syndromes and VUS copy number variants (CNVs) in patients with similar phenotypes. Using CMA and WGS data from ~7000 pediatric patients, the study aims to analyze VUS CNVs in the context of known disease networks and phenotypes. Our project employs various analytical methods to identify significant ID protein-protein interaction networks and reclassify VUS CNVs, potentially leading to more accurate diagnoses and precision therapies for NDD and ID populations.

Publications:

Mamillapalli SS, Smith-Joyner A, Forbes L, McIntyre K, Poppenfuse S, Rushing B, Strom C, May L, Kuehn D, Kew K, Ravisankar S. Screening for Opioid and Stimulant Exposure in utero via Targeted and Untargeted Metabolomics Analysis of Umbilical Cords. Ther Drug Monit. 2020 Mar 2. doi: 10.1097/FTD.0000000000000753. Epub ahead of print. PMID: 32142018. 

Lee MH, Mamillapalli SS, Keiper BD, Cha DS. A systematic mRNA control mechanism for germline stem cell homeostasis and cell fate specification. BMB Reports 2016, 49, 93-98. 

Lee MH, Cha DS, Mamillapalli SS, Kwon YC, Koo HS. Transgene- mediated co-suppression of DNA topoisomerase-1 gene in Caenorhabditis elegans. Int J Biochem Mol Biol. 2014, 5, 11-20.