Results for Genetics and Epigenetics

Dr. Sullivan's research focuses on new and rare immunodeficiencies. She has a long-standing interest in one of the most common of the primary immunodeficiencies – chromosome 22q11.2 deletion syndrome. She also investigates common variable immunodeficiency, as well as the genetics and epigenetics of systemic lupus erythematosus.

Dr. Wells studies the genetic, epigenetic, and transcriptional mechanisms that control T lymphocyte immunity and tolerance.

Dr. Kalish's research focuses on understanding the molecular and epigenetic mechanisms that contribute to the predisposition to cancer that is characteristic of pediatric patients with rare imprinted gene disorders, including the overgrowth disorder Beckwith-Wiedemann syndrome (BWS).

Dr. Blobel investigates the fundamental mechanisms involving transcription factors, chromatin regulators, and higher order chromatin. He is gearing his basic science discoveries towards genetic and epigenetic treatment modalities. In addition, Dr. Blobel is interested in mechanism of epigenetic memory.

Dr. Weitzman's research program aims to understand host responses to virus infection, and the cellular environment encountered and manipulated by viruses. He studies multiple viruses in an integrated experimental approach that combines biochemistry, molecular biology, genetics, and cell biology.

Dr. Ackermann studies diabetes (types 1 and 2) and congenital hyperinsulinism using mouse models, cell lines, and primary human tissue. She aims to identify novel pathways regulating beta cell insulin secretion, leading to innovative therapeutic strategies for these disorders. Current studies include in vivo mouse physiology, ex vivo human islet physiology, CRISPR-Cas9 gene editing, epigenetic modification, and single-cell functional genomics.

Dr. Zhou’s outstanding research interests include mitosis-coupled DNA methylation drift and inference of cell-type-specific epigenetic signals. He developed multiple computational tools for analyzing DNA methylation data and has actively contributed to cancer genomics data analysis.

Dr. Conine works to understand the functions of small RNAs in reproduction, epigenetic inheritance, and development. His research focuses on how small RNAs in sperm transmit epigenetic information to offspring, as well as their involvement in male fertility.

Dr. Kelly’s research career began with deciphering the genetic basis of inborn errors in metabolism in children, followed by a series of breakthrough discoveries relevant to the diagnosis and treatment of common forms of heart failure in the general population.