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Rafael Bejar

Title(s)Associate Clinical Professor -, Medicine
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
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    Research Interests
    Our lab is focused on understanding the genetic changes that drive the development and progression of hematologic malignancies like acute myeloid leukemia and myelodysplastic syndromes. Our goal is to translate our discoveries into clinically meaningful improvements in how we care for patients with these disorders.

    Our prior work helped characterize the range of genetic alterations that exist in patients with myelodysplastic syndromes (MDS). We studied bone marrow sample from over 400 patients with these disorders and examined them for mutations in over 20 recurrently mutated genes. We learned about the relative frequency of these mutations, how they can overlap with each other, and how they may better classify molecular subtypes of MDS. We demonstrated that mutations in several genes are associated with clinical features seen in patients with MDS, potentially explaining much of the heterogeneity associated with this disease. Most importantly, we identified mutations in several genes, that when present, are associated with a poorer prognosis than would otherwise be predicted using standard clinical scoring systems. This has helped accelerate the drive to include tumor sequencing in the standard evaluation of patients with MDS.

    Currently we are investigating how acquired mutations in the diseased cells from patients with myelodysplastic syndromes are associated with their response to treatment with drugs like azacitidine and decitabine. We hope to discover genes that physicians can test for mutations in order to select the best treatment options for their patients with MDS. These studies should also give us insight into the mechanisms of drug resistance and how we may be able to overcome them.

    In addition, we are interested in the functional consequence of the mutations we have characterized in patients with MDS. For example, we are studying how mutations in the EZH2 gene, which are associated with a poor prognosis, might affect the function neutrophils in patients with these abnormalities.

    Going forward, we plan to implement clinical sequencing of bone marrow specimens from patients with MDS and related hematologic malignancies. Our plan is work out how best to use this information to personalize the choice of therapy and overall care of our patients with these disorders.

    Benjamin Ebert, David Steensma, Guillermo Garcia Manero, and their colleagues at the Brigham and Women’s Hospital, the Dana-Farber Cancer Institute, and the MD Anderson Cancer Center – Examination of mutations that may predict response to hypomethylating agents in patients with MDS.
    Nancy Huang and Anjana Rao – La Jolla Institute for Allergy and Immunology – Examination of 5-hydroxymethycytosine in MDS.
    Derek Murphy and Mike Makrigiorgos – Dana-Farber Cancer Institute – High sensitivity methods for detecting rare, but clinically important mutations.

    Education and Training
    MD, PhD - University of California, San Diego, La Jolla, CA - 2003
    Internal Medicine Internship - University of Chicago Hospitals, Chicago, IL - 2003-2004
    Internal Medicine Residency - Brigham and Women's Hospital, Boston, MA - 2004-2006
    Hematology/Oncology Fellowship - Dana Farber Partners Cancer Care, Boston, MA - 2006-2011
    Post-Doctoral Research - Brigham and Women's Hospital, Boston, MA - 2008-2012

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    Collapse Research Activities and Funding
    Characterization of Genetic Abnormalities in MDS and Their Clinical Impact
    NIH/NIDDK K08DK091360Apr 2, 2012 - Jun 30, 2012
    Role: Principal Investigator

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    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. What biologic factors predict for transformation to AML? Best Pract Res Clin Haematol. 2018 12; 31(4):341-345. Bejar R. PMID: 30466744.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    2. Splicing Factor Mutations in Cancer. Adv Exp Med Biol. 2016; 907:215-28. Bejar R. PMID: 27256388.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    3. Myelodysplastic Syndromes Diagnosis: What Is the Role of Molecular Testing? Curr Hematol Malig Rep. 2015 Sep; 10(3):282-91. Bejar R. PMID: 26126599.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    4. Clinical and genetic predictors of prognosis in myelodysplastic syndromes. Haematologica. 2014 Jun; 99(6):956-64. Bejar R. PMID: 24881041.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    5. What lies beyond del(5q) in myelodysplastic syndrome? Haematologica. 2013 Dec; 98(12):1819-21. Adema V, Bejar R. PMID: 24323981.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells