Childhood linear growth and puberty are two fundamental processes of human development, and disruption of these processes significantly impacts a child's health and adulthood life. The research of Youn Hee Jee, M.D., focuses on the molecular regulatory mechanisms governing childhood linear growth and puberty, especially using genetic approaches to study new genetic causes of growth and pubertal disorders. Using a family SNP array and exome sequencing approach, Dr. Jee identified novel genes causing syndromic growth disorders (CCDC53, QRICH1, etc.), bone disorders (SP7), overgrowth syndrome (SPIN4), and pubertal disorders (DLG2). Her translational research elaborates on newly identified genes' functions and the molecular pathophysiology of how these genetic changes cause the diseases. Because many genetic causes of growth disorders and pubertal disorders are still unknown, Dr. Jee aims to study patients with such conditions and their families using genome sequencing to identify more novel genetic causes of childhood growth and pubertal disorders. Dr. Jee also aims to develop new treatment modalities for children with severe growth disorders. Dr. Jee is currently exploring a new genetic cause of fibrillinopathy that affects multiple organs, such as growth plate, fat, and/or bone, and a potential treatment approach for severe growth disorders using an epigenetic regulatory gene(s).
