The affordability of next generation sequencing based omics assays has paved the way to its broad acceptance and application in clinical and research settings. ‘Rare congenital diseases’ is an area which tremendously benefited from this boom. The key challenge now is on expedient analysis and interpretation of this patient data. Development in technology has made major contributions to our improved understanding of the functional role of different genomic loci. Large scale in vivo and in vitro efforts have highlighted the interplay and importance of different genes at various developmental stages. This coupled with large scale population sequencing efforts, and an increased focus on data sharing, have generated a deluge of ‘useful data’. The onus is now on combining these predictive (or in some cases only suggestive) datasets to best interpret the patient data at hand. The supervisor along with pediatric clinical collaborators is currently studying various rare neuromuscular, ophthalmologic, and developmental conditions. The project aims to better understand a subset of these disorders in light of domain knowledge. More information on these specific disorders can be obtained by emailing the supervisor.
Dr Javed is an Assistant Professor in the Li Ka Shing Faculty of Medicine at the University of Hong Kong. He received his PhD in computer science from Rensselaer Polytechnic Institute. After doctorate, he joined Computational Biology Center at IBM TJ Research Center as a postdoctoral researcher where his work was part of the Genographic project. He then joined Genome Institute of Singapore (A*STAR) as a research associate and was promoted to research scientist in 2014. Dr Javed has co-authored more than 50 publications including senior authorships in Nature Methods and Nature Genetics. His research group focuses on method development and application in active collaboration with other clinical and experimental groups.