Pathology Research

The Department of Pathology financially seeds and supports basic and clinical research programs in pathology. These research programs seek to uncover innovative new approaches, correlate outcomes, and solve the many puzzles of the prevention, diagnosis and treatment of pediatric diseases in an atmosphere that encourages openness with the research community at large.

Featured researchers in the Department of Pathology hold faculty appointments at Harvard Medical School.

Latest Research in Pathology

RESEARCHER FOCUS AREA
Roberto Chiarle, MD Genetics and chromosomal translocations in lymphoma and other cancers
Mark Fleming, MD, DPhil      Molecular genetics of erythroid iron metabolism
Robin Haynes Pathological basis of Sudden Infant Death Syndrome (SIDS)
Naama Kanarek Folate Metabolism
Maria K. Lehtinen, PhD Cerebrospinal fluid-based signaling in the nervous system
Hanno Steen, PhD Proteomics

Our Current Research and Innovation Efforts

Fleming lab

The Fleming Laboratory is interested in three general areas: 1) understanding how mammals acquire and utilize iron for the purpose of heme synthesis and erythropoiesis, 2) the genetics of rare inherited blood diseases, including genetic iron overload and iron deficiency, congenital anemias (particularly congenital sideroblastic anemia) and other cytopenias,  as well as bone marrow failure disorders, and 3) the role of the ubiquitin-proteasome system (UPS) in modifying the erythroid proteome during terminal erythropoiesis. To investigate these areas, we take two general approaches.  First we using next generation sequencing techniques to identify the genes underlying mouse and human disease phenotypes.  Second, using targeted mutagenesis in the mouse, we are studying proteins implicated in systemic, intracellular and erythroid iron homeostasis and the UPS

Lehtinen lab

The Lehtinen Laboratory is fascinated by how the choroid plexus – cerebrospinal fluid (CSF) system instructs brain development and lifelong heath. Recent work in the lab has focused on investigating how the CSF proteome is regulated by the choroid plexus, a tissue located in each ventricle in the brain. We have produced a cellular and spatial map of the choroid plexus using sequencing approaches. A major goal is to adapt emerging imaging technologies in order to access and control CSF production in vivo. With this toolkit, we are addressing exciting questions about normal brain development, and exploring disease mechanisms underlying neurodevelopmental as well as age-associated neurologic conditions including hydrocephalus, mental health, and cancer.

Chiarle lab

The Chiarle Laboratory is interested in genetic mechanisms and therapy of cancers. By exploiting genome-wide approaches, we aim at understanding the general principles that govern the formation of chromosomal translocations in cancers and their therapeutic vulnerabilities. In translational efforts, we are developing innovative immunotherapies for tumors, including a vaccine to elicit strong and specific immune responses against tumors that express ALK and ALK-specific chimeric antigen receptor (CAR) T cells.

Steen lab

The Steen Laboratory is developing and applying computational methods and high throughput proteomics pipelines for the time- and cost-efficient analysis of a wide range of primary human specimens ranging from tissue to urine, CSF and plasma/serum with the ultimate goal to identify new biomarkers and/or drug targets. The areas of interest range from neurodegeneration, pancreatic diseases andsystems immunology. The Steen Laboratory is equipped with its own suite of state-of-the-art high resolution/high accuracy mass spectrometers as well as a triple quadrupole instrument.

Haynes lab

The Haynes Laboratory engages in basic and translational science to better understand biological vulnerabilities that contribute to the Sudden Infant Death Syndrome (SIDS) and to elucidate means by which we can ultimately prevent this death from occurring. We focus on 2 overarching questions: (1) what are the pathogenic mechanisms underlying SIDS and; (2) can we utilize biomarkers of these mechanisms to identify living infants most at risk for SIDS? Through neurobiologic, genomic, proteomic, metabolomic, and physiologic approaches, our research includes unique collaborations with clinicians developing translational approaches to Sudden and Unexpected Death in Pediatrics and scientists studying animal models related to SIDS.

Kanarek lab

The Kanarek Laboratory is interested in folate metabolism. It is surprising that this essential vitamin, so famous for its key role in development, hematopoiesis and cancer progression, is still a mystery when it comes to its cellular and whole-body sensing and homeostasis.

The Kanarek lab applies genetic perturbations, biochemical assays, molecular biology, functional genomic screens, and metabolite profiling by mass spectrometry in cell-culture systems and in vivo to study basic folate biology including folate metabolism, folate-related signal transduction, the oncogenic role of folate and folate homeostasis in normal physiology and pathological conditions.