John M. Greally, D.Med., M.B.,B.Ch.,B.A.O., Ph.D.
- Professor, Department of Genetics
- Professor, Department of Pediatrics (Pediatric Genetic Medicine)
- Chief, Division of Genomics, Department of Genetics
- Director, Center for Epigenomics
- Faculty Scholar for Epigenomics
- Faculty Advisor, Computational Genomics Core, Department of Genetics
- Faculty Advisor, Epigenetics Shared Facility, Department of Genetics
Area of research
- Medical genomics: the delivery of genomic information to enhance the health of the Bronx population.Transcriptional regulation/epigenetics: understanding how the regulation of the genome is influenced by genetic and environmental variation.
Phone
Location
- Albert Einstein College of Medicine Michael F. Price Center 1301 Morris Park Avenue 322 Bronx, NY 10461
Research Profiles
Professional Interests
Our research is based on understanding models of genetic susceptibility to human disease, especially those affecting children.
We focus on understanding phenotypes, through genetic or environmental influences that change the innate properties of a canonical cell type, or how those influences alter cell lineage choices during differentiation.
Our studies are facilitated by Einstein's Center for Epigenomics, its Epigenomics Shared Facility and the Computational Epigenomics Group.
Our basic research involves the study of the effects of environmental and genetic influences on stem cell differentiation, with a focus on liver and blood diseases.
Our lab is focusing on stem cell systems to understand mechanisms of cellular memory, and to reveal the functional variants in the non-coding majority of the human genome.
Our clinical research program is centered on the New York Center for Rare Diseases, where we contribute to advanced diagnostics through long-read sequencing and advanced phenotyping and analytical tools.
Selected Publications
Rosean S, Sosa EA, O'Shea D, Raj SM, Seoighe C, Greally JM. Regulatory landscape enrichment analysis (RLEA): a computational toolkit for non-coding variant enrichment and cell type prioritization. BMC Bioinformatics. 2024 May 7;25(1):179. doi: 10.1186/s12859-024-05794-7. PMID: 38714913; PMCID: PMC11075237.
Pearson NM, Stolte C, Shi K, Beren F, Abul-Husn NS, Bertier G, Brown K, Diaz GA, Odgis JA, Suckiel SA, Horowitz CR, Wasserstein M, Gelb BD, Kenny EE, Gagnon C, Jobanputra V, Bloom T, Greally JM. GenomeDiver: a platform for phenotype-guided medical genomic diagnosis. Genet Med. 2021 Oct;23(10):1998-2002. doi: 10.1038/s41436-021-01219-5. Epub 2021 Jun 10. PMID: 34113009; PMCID: PMC8488006.
Johnston AD, Simões-Pires CA, Thompson TV, Suzuki M, Greally JM. Functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding. Nat Commun. 2019 Aug 2;10(1):3472. doi: 10.1038/s41467-019-11412-5. PMID: 31375681; PMCID: PMC6677801.
Sato H, Wu B, Delahaye F, Singer RH, Greally JM. Retargeting of macroH2A following mitosis to cytogenetic-scale heterochromatic domains. J Cell Biol. 2019 Jun 3;218(6):1810-1823. doi: 10.1083/jcb.201811109. Epub 2019 May 20. PMID: 31110057; PMCID: PMC6548134.
Kong Y, Berko ER, Marcketta A, Maqbool SB, Simões-Pires CA, Kronn DF, Ye KQ, Suzuki M, Auton A, Greally JM. Detecting, quantifying, and discriminating the mechanism of mosaic chromosomal aneuploidies using MAD-seq. Genome Res. 2018 Jul;28(7):1039-1052. doi: 10.1101/gr.226282.117. Epub 2018 May 17. PMID: 29773658; PMCID: PMC6028128.
Lappalainen T, Greally JM. Associating cellular epigenetic models with human phenotypes. Nat Rev Genet. 2017 Jul;18(7):441-451. doi: 10.1038/nrg.2017.32. Epub 2017 May 30. PMID: 28555657.