12pittaluga
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Translational research in lymphomas
and primary immunodeficiencies
Stefania Pittaluga, MD PhD
Staff Clinician
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Primary Research Area(s) What are your expertise?
Lymphoid system, lymphomas and primary immunodeficiencies
Molecular biology techniques, in situ hybridization and
immunohistochemistry
What technologies / approaches / methodologies do you utilize in your
research area?
Use of immunohistochemistry to validate genes involved in signalingpathways as identified by gene expression profiling, RNA-seq, Chip-
seq, WGS, WES, mutation analysis and targeted sequencing.
These techniques are widely available in the laboratories of many
collaborators and the data are shared and discussed frequently.
Some of these techniques are also available in the laboratory ofpathology.
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Research topics
Histologic and phenotypic features of newly
defined primary immunodeficiencies
germ line mutations involving CARD-11 (J Exp Med.2012 Nov 19;209(12):2247-61)
loss of function PKC-delta (Blood. 2013 18;121(16):3117-25)
Validation of GEP data in mediastinal gray
zone lymphoma with emphasis on the
microenvironment
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Research Implications How does your research fit in the broader context?
How does it fit into LP and broader areas?
How does your research translates into potential clinical
applications?
Collaborative research with physician/scientist from NCI and NIH, in
a supportive and critical role.
The study of primary immunodeficiencies with the current
technologies offers greater possibilities to identify the underlying
genetic alterations and to characterize the histological and
phenotypic features.
Based on a close collaboration with basic and clinical teams inlymphoma, I contribute to the validation of new therapeutic targets
and at the same time improve our diagnostic algorithms.
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Future Direction Where do you see your research going in the next 5-10 years?
What are the current challenges & obstacles?(identify barriers and limitations beyond time, money, people, travel, and space)
Continue to work with my colleagues within LP, NCI and the greater
NIH.
The current challenge is represented by the necessity to rely on
research groups outside LP that are able to provide the expertise
needed to conduct clinical research today. In order to be effective,
large number of people with specific expertise are needed to make
sense of the wealth of data generated in any specific area.
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CollaboratorsWho do you consider your primary collaborators & partnerships?
Within LP: Dr. Jaffe and Dr. Raffeld
Close Partnership with the Faculty of the
Hematopathology fellowship program (within LP and
DLM)
Outside LP main collaborators:
NCI, Dr. Wilson, Dr. Staudt, Dr. Waldmann, Dr.
Yarchoan
NHLBI Dr. Wiestner, Dr. Dunbar
NIAID Dr. Holland, Dr. Cohen, Dr. Uzel, Dr. Lenardo
and others