Molecular Mechanistic Investigation of Mosaic Chromosomal Disorders
Pallister-Killian syndrome is a mosaic chromosomal disorder due to isochromosome 12p. Mosaicism is defined as the presence of two or more genotypes in an individual originated from a single fertilized egg. Patients with PKS have two populations of cells with and without isochromosome 12p. Comparison of these two cellular populations allows us to precisely delineate the impact of extra chromosome on cellular function. Using patient-derived samples, we aim to discover druggable molecules/pathways in PKS.
Molecular Mechanistic Investigation of Novel Chromatin Disorders
My group has discovered causative genes for pediatric developmental disorders and those include CHOPS syndrome, NKAP-related syndrome, and CBX1-related syndrome. We are collecting clinical and molecular data on patients with these diagnoses to understand the clinical spectrum of these disorders.
PRESS RELEASE(s)
May 2023 Press Release