Mendelian disease

We aim to understand how transcription factors (TFs) ensure adequate and timely gene expression in human development. To do this, we combine chemical genetic tools to quantitatively manipulate TF function, sequence-to-activity deep learning approaches...

Kaitlin Samocha is an Assistant Professor in the Center for Genomic Medicine at Massachusetts General Hospital and Harvard Medical School. She is on the steering committee for the Genome Aggregation Database (gnomAD), one of the world’s largest publicly...

The Flannick Lab develops computational approaches to use human genetics to understand or better treat human diseases, with a current focus on diabetes. We are based at Boston Children’s Hospital, Harvard Medical School, and the Broad Institute; perform...

Genomics of human disease. We are interested in the functional consequences of the complete spectrum of genomic variation on human disease, with a particular focus on congenital birth defects, autism, neurodevelopmental disorders, and diverse...

Work in the Seidman laboratory (Dept of Genetics, HMS) is directed toward identifying gene defects that cause inherited heart disease and defining the pathways by which these mutations mediate disease. We begin by using human genetic techniques to...

Several long-term research projects in human genetics are ongoing in the Morton laboratory. An overall theme is to apply evolving techniques in molecular cytogenetics to address problems in human cytogenetics; our interests include chromosomal...

Mitochondria are tiny organelles found in nearly all cells, serving as the center stage for ATP production, ion homeostasis, and apoptosis. Their composition, density, and coupling efficiency are dynamic properties, varying across cell types and adapting...

My laboratory is focused on understanding nervous system disease using molecular genetic strategies, beginning with human patients and proceeding through in vitro and modeling studies, with the ultimate goal of improving diagnosis, management and...

Although numerous eukaryotic genomes have been sequenced, much still remains to be understood about how the genes in those genomes are regulated. The interactions between transcription factors (TFs) and their DNA binding sites are an integral part of the...