The main areas of research in our laboratory include identification of new gene-disease correlations in intellectual disability, neurogenetic disorders, skin disorders and infertility in the Israeli population. Research in our lab so far led to: 1) characterization of many novel genetic disorders; 2) identification of more than twenty new gene-disease associations. As a result of these discoveries, preconceptional screening programs in at-risk communities with high frequency of carrier status and a high disease burden have been established.
Our recent research explores the role of clinical geneticists in genomic variant interpretation of their patients and the role of artificial intelligence-based platforms in the interpretation of exome sequencing results. Recent advancements in next generation genome sequencing techniques enable clinical labs and research scientists to generate enormous amount of genomic data that can be further processed for identifying potential causative variants. Clearly, automatic interpretation of genomic data has become a necessity to reduce time and costs required for variant interpretation. We believe that clinicians should play a more active role in variant prioritization by using next-generation genomics intelligence platforms in genetics departments in order to improve sequencing data interpretation and clinical management.
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. Fig. 3 MED25 protein structure prediction.