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.
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
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
Fig. 3 MED25 protein structure prediction.