Topic: genomic medicine

Genomic medicine provides potential for novel diagnostic targets and therapeutic solutions. As mutations in human genes are identified and associated with neurodevelopmental disorders, the need to create personalized treatment protocol has increased. We have previously reported the first mutation in type 2 vesicular monoamine transporter (VMAT2), causing an infantile Parkinsonism phenotype Parkinsonism-dystonia-2 (PKDYS2) (OMIM 618049)( Rilstone et al., NEJM, 2013). Over the past decade, several additional mutations have been identified in VMAT2, giving rise to a broad phenotype spectrum and v