Oana Caluseriu

Summary:

I am a medical geneticist with a clinical and research focus on rare disorders affecting primarily prenatal and pediatric age. Characterizing human phenotypes is the mainstay of my clinical practice and is a fundamental step towards exploring the molecular basis and underlying mechanisms of genetic disorders. Identifying a cause for a genetic condition is central for building a personalized management of both the patient and their families including genetic testing, family genetic counseling and planning, and access to community resources. The thrust of my research is the application of next generation sequencing (NGS) techniques that enable gene identification and functional characterization of genomic variants with impact on patient's diagnosis. I am the leader of an initiative to develop the Translational Genomics Hub (TGH) under the auspices of WCHRI, a resource that will facilitate the interpretation of NGS data and exploration by functional studies of relevant variants. Bridging the gap between clinicians and basic researchers, TGH will be directly involved in characterizing the genetic and functional basis of human variation as relevant to clinical practice.