Harvard College

Children's Medical Center Corporation

Massachusetts Institute of Technology

The Broad Institute, Inc.

Vijay G Sankaran

Stuart H Orkin

Aviv Regev

Jason Daniel Buenrostro

Leif S Ludwig

Jacob C Ulirsch

Christoph Muus

Caleb A Lareau

Embodiments disclosed herein provide methods of using somatic mutations in mitochondrial genomes to retrospectively infer cell lineages in native contexts and to serve as genetic barcodes to measure clonal dynamics in complex cellular populations. Further, somatic mutations in mitochondrial DNA (mtDNA) are tracked by single cell genomic approaches for simultaneous analysis of single cell lineage and state. Applicants further show that mitochondrial mutations can be readily detected with contemporary single cell transcriptomic and epigenomic technologies to concomitantly capture gene expression profiles and chromatin accessibility, respectively.

Lineage tracing using mitochondrial genome mutations and single cell genomics

The invention relates to methods and uses of modulating fetal hemoglobin expression (HbF) in a hematopoietic progenitor cells via inhibitors of BCL11A expression or activity, such as RNAi and antibodies.

Modulation of BCL11A for treatment of hemoglobinopathies

Growing community of inventors

Jamaica Plain, MA, United States of America

Vijay G Sankaran