Genetic factors play a major role in the etiology of neurodevelopmental disorders (NDDs). In recent years, there has been breakthroughs in identifying risk genes for these disorders, many of which are highly important for brain development. The recent estimates are that there could be even more than 1000 genes that are play a role and these genes are affected mainly by rare individual mutations. Even though, the understanding of the genetic factors have increased in recent years, the exact genetic causes have not been identified in majority of the individuals with NDDs.
From genetic variation till biological networks
At KIND Genomics, we aim at understanding what genes are important for etiology of NDDs, functions of these genes and how strongly these genes affect the specific symptoms seen in individuals with NDDs. In specific projects, we are also interested how genetic variations can affect treatment outcome. Our main focus is to analyze rare variations from single base pair mutations to larger structural variation using a wide range of genomic technologies including high-throughput sequencing (whole genome and exome) and genotyping microarrays. We will translate the effects of these genetic variants to single genes and biological networks using large range of bioinformatics and traditional molecular biology tools.
Translational research will help to improve the treatment for individuals with NDDs in the future
We are conducting translational research by combining data from neuropsychology, neuropathology, neuroimaging and environmental factors with the genetic data to understand the biological mechanisms leading to NDDs. Increased understanding of the genetic factors in NDDs will help in improving the diagnosis, enabling better prediction of the developmental trajectories and treatment outcomes. In the future, we hope that information of the genetic risk factors can be used to plan effective individualized treatments for NDDs.