Juan Young, Ph.D.
- Co-Director, Center for Molecular Genetics, John P. Hussman Institute for Human Genomics
- Research Associate Professor, Dr. John T. Macdonald Foundation Department of Human Genetics
- Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development.
- Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice.
- Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis.
- Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.
- X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome.
- List of Publications
Juan Young, Ph.D., is an Associate Professor in the Dr. John T. Macdonald Foundation Department of Human Genetics and Co-Director of the Center for Molecular Genetics at the John P. Hussman Institute for Human Genomics. Young is a neurobiologist interested in identifying epigenetic signatures of human genetic diseases and in establishing animal models of neurological diseases. He has a longstanding interest in neurodevelopmental disorders in general and in understanding the pathogenesis of Rett Syndrome in particular. His work includes the identification of RNA-related functions of MeCP2, mutated in Rett Syndrome and the characterization of cellular and mouse models for this disease.