Karin Finberg, MD, PhD
Biography
Karin Finberg, MD, PhD, is a board-certified molecular genetic pathologist who specializes in using genetic sequencing techniques to characterize tumors from patients with cancer. Her clinical activities are performed in Yale New Haven Hospital's (YNHH) Tumor Profiling Laboratory.
“Our laboratory performs genetic analyses on a wide range of solid tumor types, including lung cancer, colorectal cancer, melanoma, and many others,” Dr. Finberg says. “In some cases, we are looking for specific genetic alterations in the tumor DNA that could make a patient eligible for a selected FDA-approved therapy that targets a particular genetic change. In other cases, we are evaluating the tumor DNA and RNA for a broader range of genetic abnormalities that might serve as entry criteria for clinical trials evaluating drugs that are being actively investigated.”
Dr. Finberg’s role is to review tumor testing results and to provide a clinical interpretation that will aid the referring oncologist in planning therapy for the patient. In addition to preparing pathology reports, she discusses tumor testing results with oncologists at the Yale Cancer Center's Precision Medicine Tumor Board, where molecular findings are considered in the context of each patient's individual clinical picture to help determine therapeutic options.
"There has been steady progress in the development of targeted therapies in recent years, and as a result, we have seen a large increase in tumor testing requests placed by oncologists," Dr. Finberg says. “By looking for a wide range of genetic changes in tumor specimens, we hope to increase our ability to match a patient to a clinical trial.”
Dr. Finberg divides her time between clinical work in the YNHH Tumor Profiling Laboratory and genetic-based laboratory research that investigates how the body handles iron, a metal that is essential for growth of normal cells, as well as for cancer cells.
At Yale School of Medicine, Dr. Finberg is an associate professor of pathology.
Titles
- Associate Professor of Pathology
- Enrichment Core Director, Yale Cooperative Center of Excellence in Hematology
- Course Director, HSCI 9100 Molecular Genomic Pathology in Precision Medicine, Masters of Health Sciences Program Clinical Investigation Track
- Associate Director, Molecular Genetic Pathology Fellowship Program
- Associate Clinical Director, Tumor Profiling Laboratory
- Co-Director, Yale Summer Enrichment Research Experience , Yale Center for Clinical Investigation (YCCI)
Education & Training
- Medical InstructorDuke University Medical Center (2013)
- Sr Research AssociateDuke University Medical Center (2009)
- Research FellowChildren’s Hospital Boston (2008)
- ResidentMassachusetts General Hospital (2007)
- Clinical FellowBrigham and Women's Hospital (2006)
- ResidentMassachusetts General Hospital (2005)
- MDYale School of Medicine (2003)
- PhDYale School of Medicine, Genetics (2002)
- BSYale College, Biology (1993)
Additional Information
- Gunshin-Levy Young Investigator Award: International BioIron Society (2013)
- Career Awards for Medical Scientists: Burroughs Wellcome Fund (2011)
- Cooley's Anemia Foundation Research Fellowship: (2008)
- Young Investigator Award: Association for Molecular Pathology (2006)
- AB of Pathology, Molecular Genetic Pathology (2007)
- AB of Pathology, Clinical Pathology (2007)
- International BioIron Society (2019 - Present): Member, Board of Directors
- American Society of Hematology Scientific Committee on Iron and Heme (2015 - 2018): Member (2015-2016), Vice Chair (2017), Chair (2018)
- Blood, Editorial Board (2015 - 2018): Member
- Yale School of Medicine MD/PhD Faculty Committee (2013 - Present): Member
- Li X, Lozovatsky L, Tommasini S, Fretz J, Finberg K. Bone marrow sinusoidal endothelial cells are a site of Fgf23 upregulation in a mouse model of iron deficiency anemia. Blood Advances 2023, 7: 5156-5171. PMID: 37417950, PMCID: PMC10480544, DOI: 10.1182/bloodadvances.2022009524.
- McKnight Q, Jenkins S, Li X, Nelson T, Marlier A, Cantley LG, Finberg KE, Fretz JA. IL‐1β Drives Production of FGF‐23 at the Onset of Chronic Kidney Disease in Mice. Journal Of Bone And Mineral Research 2020, 35: 1352-1362. PMID: 32154933, PMCID: PMC7363582, DOI: 10.1002/jbmr.4003.
- Li X, Lozovatsky L, Sukumaran A, Gonzalez L, Jain A, Liu D, Ayala-Lopez N, Finberg KE. NCOA4 is regulated by HIF and mediates mobilization of murine hepatic iron stores after blood loss. Blood 2020, 136: 2691-2702. PMID: 32659785, PMCID: PMC7735158, DOI: 10.1182/blood.2020006321.
- Xavier-Ferrucio J, Scanlon V, Li X, Zhang PX, Lozovatsky L, Ayala-Lopez N, Tebaldi T, Halene S, Cao C, Fleming MD, Finberg KE, Krause DS. Low iron promotes megakaryocytic commitment of megakaryocytic-erythroid progenitors in humans and mice. Blood 2019, 134: 1547-1557. PMID: 31439541, PMCID: PMC6839952, DOI: 10.1182/blood.2019002039.
- Heeney MM, Guo D, De Falco L, Campagna DR, Olbina G, Kao PP, Schmitz-Abe K, Rahimov F, Gutschow P, Westerman K, Ostland V, Jackson T, Klaassen R, Markianos K, Finberg KE, Iolascon A, Westerman M, London WB, Fleming MD. Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency. Blood 2018, 132: 448-455. PMID: 29895660, PMCID: PMC6071554, DOI: 10.1182/blood-2017-03-773028.
- Lih CJ, Harrington RD, Sims DJ, Harper KN, Bouk CH, Datta V, Yau J, Singh RR, Routbort MJ, Luthra R, Patel KP, Mantha GS, Krishnamurthy S, Ronski K, Walther Z, Finberg KE, Canosa S, Robinson H, Raymond A, Le LP, McShane LM, Polley EC, Conley BA, Doroshow JH, Iafrate AJ, Sklar JL, Hamilton SR, Williams PM. Analytical Validation of the Next-Generation Sequencing Assay for a Nationwide Signal-Finding Clinical Trial Molecular Analysis for Therapy Choice Clinical Trial. Journal Of Molecular Diagnostics 2017, 19: 313-327. PMID: 28188106, PMCID: PMC5397672, DOI: 10.1016/j.jmoldx.2016.10.007.
- Heeney MM, Finberg KE. Iron-Refractory Iron Deficiency Anemia (IRIDA). Hematology/Oncology Clinics Of North America 2014, 28: 637-652. PMID: 25064705, DOI: 10.1016/j.hoc.2014.04.009.
- Finberg KE, Whittlesey RL, Andrews NC. Tmprss6 is a genetic modifier of the Hfe-hemochromatosis phenotype in mice. Blood 2011, 117: 4590-4599. PMID: 21355094, PMCID: PMC3099575, DOI: 10.1182/blood-2010-10-315507.
- Finberg KE, Whittlesey RL, Fleming MD, Andrews NC. Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis. Blood 2010, 115: 3817-3826. PMID: 20200349, PMCID: PMC2865872, DOI: 10.1182/blood-2009-05-224808.
- Finberg KE, Heeney MM, Campagna DR, Aydınok Y, Pearson HA, Hartman KR, Mayo MM, Samuel SM, Strouse JJ, Markianos K, Andrews NC, Fleming MD. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nature Genetics 2008, 40: 569-571. PMID: 18408718, PMCID: PMC3104019, DOI: 10.1038/ng.130.
- Finberg KE. Unraveling Mechanisms Regulating Systemic Iron Homeostasis. Hematology 2011, 2011: 532-537. PMID: 22160085, PMCID: PMC3648641, DOI: 10.1182/asheducation-2011.1.532.
- Stagg DB, Whittlesey RL, Li X, Lozovatsky L, Gardenghi S, Rivella S, Finberg KE. Genetic loss of Tmprss6 alters terminal erythroid differentiation in a mouse model of β-thalassemia intermedia. Haematologica 2019, 104: e442-e446. PMID: 30819909, PMCID: PMC6886429, DOI: 10.3324/haematol.2018.213371.
- Jiao J, Finberg K, Jain D, Morotti R. Hepatocellular Adenoma: Report of 2 Cases That Highlight the Relevance of Phenotype-Genotype Correlation in the Pediatric Population. Pediatric And Developmental Pathology 2023, 26: 394-403. PMID: 37334553, DOI: 10.1177/10935266231175426.
- Finberg KE. Blocking (iron) traffic in the gut. Blood 2022, 139: 2424-2425. PMID: 35446376, DOI: 10.1182/blood.2022015480.
- Grant MJ, Finberg KE, Walther Z, Stein SM, Lacy J, Eder JP, Goldberg SB. Yale Precision Medicine Tumor Board: reawakening the guardian of the genome. The Lancet Oncology 2022, 23: 337-338. PMID: 35240081, DOI: 10.1016/s1470-2045(22)00037-7.
- Li H, Zhang X, Finberg KE, Walther Z, Jain D, Gibson J. Pathogenic BRCA2 germline variants in combined hepatocellular‐cholangiocarcinoma. Pathology International 2021, 72: 138-140. PMID: 34808016, DOI: 10.1111/pin.13188.
- Li X, Lozovatsky L, Fretz J, Finberg K. Bone Marrow Sinusoidal Endothelial Cells Are a Site of Fgf23 Upregulation in Iron Deficiency Anemia. Blood 2021, 138: 759. DOI: 10.1182/blood-2021-153329.
- Irshaid L, Clark M, Fadare O, Finberg KE, Parkash V. Endometrial Carcinoma as the Presenting Malignancy in a Teenager With a Pathogenic TP53 Germline Mutation: A Case Report and Literature Review. International Journal Of Gynecological Pathology 2021, 41: 258-267. PMID: 33990091, DOI: 10.1097/pgp.0000000000000792.
- Gibson JA, Finberg KE, Nalbantoglu I, Cecchini M, Ganzak A, Walther Z, Sklar JL, Eder JP, Goldberg SB. Yale Cancer Center Precision Medicine Tumor Board: molecular findings alter a diagnosis and treatment plan. The Lancet Oncology 2021, 22: 306-307. PMID: 33662283, DOI: 10.1016/s1470-2045(20)30683-5.
- Finberg KE. Ironing out an approach to alleviate the hypoferremia of acute inflammation. Haematologica 2021, 106: 326-328. PMID: 33522782, PMCID: PMC7849331, DOI: 10.3324/haematol.2020.266627.
- Ginzburg Y, Finberg K. 12 Iron Metabolism and Related Disorders. 2021, 445-499. DOI: 10.1016/b978-0-12-812535-9.00012-1.
- Womack J, Sukumaran A, Li X, Lozovatsky L, Gallagher PG, Seid JE, Finberg KE. Functional characterization of a novel SLC40A1 Arg88Ile mutation in a kindred with familial iron overload treated by phlebotomy. Blood Cells Molecules And Diseases 2020, 87: 102532. PMID: 33385755, PMCID: PMC8272917, DOI: 10.1016/j.bcmd.2020.102532.
- Hafez N, Walther Z, Eder JP, Sklar JL, Gettinger SN, Finberg KE, Goldberg SB. Yale Cancer Center Precision Medicine Tumor Board: new technology, new drugs, and the value of repeat testing. The Lancet Oncology 2020, 21: 343-344. PMID: 32950226, DOI: 10.1016/s1470-2045(20)30010-3.
- Maracaja DLV, Puthenpura V, Pels SG, O’Malley D, Sklar JL, Finberg KE, Xu ML. EBV-Positive Primary Large B-Cell Lymphoma: The Role of Immunohistochemistry and XPO1 in the Diagnosis of Mediastinal Lymphomas. Applied Immunohistochemistry & Molecular Morphology 2019, 28: 725-730. PMID: 31789821, DOI: 10.1097/pai.0000000000000820.
- Finberg KE. Going solo in iron transport. Blood 2019, 134: 1363-1364. PMID: 31698431, DOI: 10.1182/blood.2019003019.
- Stewart T, Finberg K, Walther Z, Sklar JL, Hafez N, Eder JP, Anderson K, Wilson F, Goldberg SB. Yale Cancer Center Precision Medicine Tumor Board: one tumour, multiple targets. The Lancet Oncology 2018, 19: 1567-1568. PMID: 32956641, DOI: 10.1016/s1470-2045(18)30759-9.
- Clark M, Menderes G, Azodi M, Finberg K, Canosa S, Parkash V. Endometrial carcinoma as the presenting malignancy in an 18-year-old patient with Li-Fraumeni syndrome. Gynecologic Oncology 2016, 141: 183-184. DOI: 10.1016/j.ygyno.2016.04.473.
- Finberg KE. Ironing out the role of Toll-like receptors. Blood 2015, 125: 2183-2184. PMID: 25838278, DOI: 10.1182/blood-2015-02-628412.
- Le LP, Garibyan L, Lara D, Finberg KE, Iafrate AJ, Duncan LM, Kay J, Nazarian RM. Fibrosis-Associated Single-Nucleotide Polymorphisms in TGFB1 and CAV1 Are Not Associated With the Development of Nephrogenic Systemic Fibrosis. American Journal Of Dermatopathology 2013, 35: 351-356. PMID: 23051628, DOI: 10.1097/dad.0b013e31826c5508.
- Finberg KE. Regulation of systemic iron homeostasis. Current Opinion In Hematology 2013, 20: 208-214. PMID: 23426198, DOI: 10.1097/moh.0b013e32835f5a47.
- Finberg KE. Striking the target in iron overload disorders. Journal Of Clinical Investigation 2013, 123: 1424-1427. PMID: 23524962, PMCID: PMC3613936, DOI: 10.1172/jci68889.
- Khuong-Quang DA, Schwartzentruber J, Westerman M, Lepage P, Finberg KE, Majewski J, Jabado N. Iron Refractory Iron Deficiency Anemia: Presentation With Hyperferritinemia and Response to Oral Iron Therapy. Pediatrics 2013, 131: e620-e625. PMID: 23319530, PMCID: PMC3675830, DOI: 10.1542/peds.2012-1303.
- Vedovelli L, Rothermel JT, Finberg KE, Wagner CA, Azroyan A, Hill E, Breton S, Brown D, Păunescu T. Altered V-ATPase expression in renal intercalated cells isolated from B1 subunit-deficient mice by fluorescence-activated cell sorting. American Journal Of Physiology. Renal Physiology 2012, 304: f522-f532. PMID: 23269648, PMCID: PMC3602708, DOI: 10.1152/ajprenal.00394.2012.
- Farris AB, Demicco EG, Le LP, Finberg KE, Miller J, Mandal R, Fukuoka J, Cohen C, Gaissert HA, Zukerberg LR, Lauwers GY, Iafrate AJ, Mino-Kenudson M. Clinicopathologic and Molecular Profiles of Microsatellite Unstable Barrett Esophagus-associated Adenocarcinoma. The American Journal Of Surgical Pathology 2011, 35: 647-655. PMID: 21422910, DOI: 10.1097/pas.0b013e31820f18a2.
- Finberg KE. Iron-Refractory Iron Deficiency Anemia. Seminars In Hematology 2009, 46: 378-386. PMID: 19786206, DOI: 10.1053/j.seminhematol.2009.06.006.
- Finberg KE. Iron homeostasis: casting new roles. Blood 2008, 112: 2181. PMID: 18779402, DOI: 10.1182/blood-2008-06-164327.
- Finberg KE, Sequist LV, Joshi VA, Muzikansky A, Miller JM, Han M, Beheshti J, Chirieac LR, Mark EJ, Iafrate AJ. Mucinous Differentiation Correlates with Absence of EGFR Mutation and Presence of KRAS Mutation in Lung Adenocarcinomas with Bronchioloalveolar Features. Journal Of Molecular Diagnostics 2007, 9: 320-326. PMID: 17591931, PMCID: PMC1899415, DOI: 10.2353/jmoldx.2007.060182.
- Cabot R, Harris N, Shepard J, Rosenberg E, Cort A, Ebeling S, Peters C, Murali M, Kratz A, Finberg K. Case 40-2006 — A 64-Year-Old Man with Anemia and a Low Level of HDL Cholesterol. New England Journal Of Medicine 2006, 355: 2772-2779. PMID: 17192544, DOI: 10.1056/nejmcpc069031.
- Kovacikova J, Winter C, Loffing-Cueni D, Loffing J, Finberg K, Lifton R, Hummler E, Rossier B, Wagner C. The connecting tubule is the main site of the furosemide-induced urinary acidification by the vacuolar H+-ATPase. Kidney International 2006, 70: 1706-1716. PMID: 16985514, DOI: 10.1038/sj.ki.5001851.
- Finberg KE, Wagner CA, Bailey MA, Păunescu T, Breton S, Brown D, Giebisch G, Geibel JP, Lifton RP. The B1-subunit of the H+ ATPase is required for maximal urinary acidification. Proceedings Of The National Academy Of Sciences Of The United States Of America 2005, 102: 13616-13621. PMID: 16174750, PMCID: PMC1224669, DOI: 10.1073/pnas.0506769102.
- Nahed BV, Seker A, Guclu B, Ozturk AK, Finberg K, Hawkins AA, DiLuna ML, State M, Lifton RP, Gunel M. Mapping a Mendelian Form of Intracranial Aneurysm to 1p34.3-p36.13. American Journal Of Human Genetics 2004, 76: 172-179. PMID: 15540160, PMCID: PMC1196421, DOI: 10.1086/426953.
- Wagner CA, Finberg KE, Breton S, Marshansky V, Brown D, Geibel JP. Renal Vacuolar H+-ATPase. Physiological Reviews 2004, 84: 1263-1314. PMID: 15383652, DOI: 10.1152/physrev.00045.2003.
- Finberg K. Mad cow disease in the United States: an update on bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease. Clinical Microbiology Newsletter 2004, 26: 113-118. DOI: 10.1016/j.clinmicnews.2004.07.001.
- Stehberger PA, Schulz N, Finberg KE, Karet FE, Giebisch G, Lifton RP, Geibel JP, Wagner CA. Localization and Regulation of the ATP6V0A4 (a4) Vacuolar H+-ATPase Subunit Defective in an Inherited Form of Distal Renal Tubular Acidosis. Journal Of The American Society Of Nephrology 2003, 14: 3027-3038. PMID: 14638902, DOI: 10.1097/01.asn.0000099375.74789.ab.
- Finberg KE, Wagner CA, Stehberger PA, Geibel JP, Lifton RP. Molecular cloning and characterization of Atp6v1b1, the murine vacuolar H+-ATPase B1-subunit. Gene 2003, 318: 25-34. PMID: 14585495, DOI: 10.1016/s0378-1119(03)00790-x.
- Dou H, Finberg K, Cardell EL, Lifton R, Choo D. Mice lacking the B1 subunit of H+-ATPase have normal hearing. Hearing Research 2003, 180: 76-84. PMID: 12782355, DOI: 10.1016/s0378-5955(03)00108-4.
- Wagner CA, Finberg KE, Stehberger PA, Lifton RP, Giebisch GH, Aronson PS, Geibel JP. Regulation of the expression of the Cl-/anion exchanger pendrin in mouse kidney by acid-base status. Kidney International 2002, 62: 2109-2117. PMID: 12427135, DOI: 10.1046/j.1523-1755.2002.00671.x.
- Smith A, Finberg K, Wagner C, Lifton R, Devonald M, Su Y, Karet F. Molecular Cloning and Characterization of Atp6n1b A NOVEL FOURTH MURINE VACUOLAR H+-ATPase a-SUBUNIT GENE*. Journal Of Biological Chemistry 2001, 276: 42382-42388. PMID: 11495928, DOI: 10.1074/jbc.m107267200.
- Cruz D, Simon D, Nelson-Williams C, Farhi A, Finberg K, Burleson L, Gill J, Lifton R. Mutations in the Na-Cl Cotransporter Reduce Blood Pressure in Humans. Hypertension 2001, 37: 1458-1464. PMID: 11408395, DOI: 10.1161/01.hyp.37.6.1458.
- Karet F, Finberg K, Nayir A, Bakkaloglu A, Ozen S, Hulton S, Sanjad S, Al-Sabban E, Medina J, Lifton R. Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34. American Journal Of Human Genetics 1999, 65: 1656-1665. PMID: 10577919, PMCID: PMC1288376, DOI: 10.1086/302679.
- Karet F, Finberg K, Nelson R, Nayir A, Mocan H, Sanjad S, Rodriguez-Soriano J, Santos F, Cremers C, Pietro A, Hoffbrand B, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton S, Wu D, Skvorak A, Morton C, Cunningham M, Jha V, Lifton R. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nature Genetics 1999, 21: 84-90. PMID: 9916796, DOI: 10.1038/5022.
- Günel M, Awad I, Finberg K, Steinberg G, Craig H, Cepeda O, Carol N, Lifton R. Genetic heterogeneity of inherited cerebral cavernous malformation. Neurosurgery 1996, 38: 1265-71. PMID: 8727164, DOI: 10.1097/00006123-199606000-00059.
- Günel M, Awad I, Finberg K, Steinberg G, Craig H, Cepeda O, Nelson-Williams C, Lifton R. Genetic Heterogeneity of Inherited Cerebral Cavernous Malformation. Neurosurgery 1996, 38: 1265-1271. DOI: 10.1227/00006123-199606000-00059.
- Günel M, Awad I, Finberg K, Anson J, Steinberg G, Batjer H, Kopitnik T, Morrison L, Giannotta S, Nelson-Williams C, Lifton R. A Founder Mutation as a Cause of Cerebral Cavernous Malformation in Hispanic Americans. New England Journal Of Medicine 1996, 334: 946-951. PMID: 8596595, DOI: 10.1056/nejm199604113341503.
- Finberg K, Muth T, Young S, Maken J, Heitritter S, Binns A, Banta L. Interactions of VirB9, -10, and -11 with the membrane fraction of Agrobacterium tumefaciens: solubility studies provide evidence for tight associations. Journal Of Bacteriology 1995, 177: 4881-4889. PMID: 7665464, PMCID: PMC177261, DOI: 10.1128/jb.177.17.4881-4889.1995.
- Burns N, Grimwade B, Ross-Macdonald P, Choi E, Finberg K, Roeder G, Snyder M. Large-scale analysis of gene expression, protein localization, and gene disruption in Saccharomyces cerevisiae. Genes & Development 1994, 8: 1087-1105. PMID: 7926789, DOI: 10.1101/gad.8.9.1087.
Biography
Karin Finberg, MD, PhD, is a board-certified molecular genetic pathologist who specializes in using genetic sequencing techniques to characterize tumors from patients with cancer. Her clinical activities are performed in Yale New Haven Hospital's (YNHH) Tumor Profiling Laboratory.
“Our laboratory performs genetic analyses on a wide range of solid tumor types, including lung cancer, colorectal cancer, melanoma, and many others,” Dr. Finberg says. “In some cases, we are looking for specific genetic alterations in the tumor DNA that could make a patient eligible for a selected FDA-approved therapy that targets a particular genetic change. In other cases, we are evaluating the tumor DNA and RNA for a broader range of genetic abnormalities that might serve as entry criteria for clinical trials evaluating drugs that are being actively investigated.”
Dr. Finberg’s role is to review tumor testing results and to provide a clinical interpretation that will aid the referring oncologist in planning therapy for the patient. In addition to preparing pathology reports, she discusses tumor testing results with oncologists at the Yale Cancer Center's Precision Medicine Tumor Board, where molecular findings are considered in the context of each patient's individual clinical picture to help determine therapeutic options.
"There has been steady progress in the development of targeted therapies in recent years, and as a result, we have seen a large increase in tumor testing requests placed by oncologists," Dr. Finberg says. “By looking for a wide range of genetic changes in tumor specimens, we hope to increase our ability to match a patient to a clinical trial.”
Dr. Finberg divides her time between clinical work in the YNHH Tumor Profiling Laboratory and genetic-based laboratory research that investigates how the body handles iron, a metal that is essential for growth of normal cells, as well as for cancer cells.
At Yale School of Medicine, Dr. Finberg is an associate professor of pathology.
Titles
- Associate Professor of Pathology
- Enrichment Core Director, Yale Cooperative Center of Excellence in Hematology
- Course Director, HSCI 9100 Molecular Genomic Pathology in Precision Medicine, Masters of Health Sciences Program Clinical Investigation Track
- Associate Director, Molecular Genetic Pathology Fellowship Program
- Associate Clinical Director, Tumor Profiling Laboratory
- Co-Director, Yale Summer Enrichment Research Experience , Yale Center for Clinical Investigation (YCCI)
Education & Training
- Medical InstructorDuke University Medical Center (2013)
- Sr Research AssociateDuke University Medical Center (2009)
- Research FellowChildren’s Hospital Boston (2008)
- ResidentMassachusetts General Hospital (2007)
- Clinical FellowBrigham and Women's Hospital (2006)
- ResidentMassachusetts General Hospital (2005)
- MDYale School of Medicine (2003)
- PhDYale School of Medicine, Genetics (2002)
- BSYale College, Biology (1993)
Additional Information
- Gunshin-Levy Young Investigator Award: International BioIron Society (2013)
- Career Awards for Medical Scientists: Burroughs Wellcome Fund (2011)
- Cooley's Anemia Foundation Research Fellowship: (2008)
- Young Investigator Award: Association for Molecular Pathology (2006)
- AB of Pathology, Molecular Genetic Pathology (2007)
- AB of Pathology, Clinical Pathology (2007)
- International BioIron Society (2019 - Present): Member, Board of Directors
- American Society of Hematology Scientific Committee on Iron and Heme (2015 - 2018): Member (2015-2016), Vice Chair (2017), Chair (2018)
- Blood, Editorial Board (2015 - 2018): Member
- Yale School of Medicine MD/PhD Faculty Committee (2013 - Present): Member
- Li X, Lozovatsky L, Tommasini S, Fretz J, Finberg K. Bone marrow sinusoidal endothelial cells are a site of Fgf23 upregulation in a mouse model of iron deficiency anemia. Blood Advances 2023, 7: 5156-5171. PMID: 37417950, PMCID: PMC10480544, DOI: 10.1182/bloodadvances.2022009524.
- McKnight Q, Jenkins S, Li X, Nelson T, Marlier A, Cantley LG, Finberg KE, Fretz JA. IL‐1β Drives Production of FGF‐23 at the Onset of Chronic Kidney Disease in Mice. Journal Of Bone And Mineral Research 2020, 35: 1352-1362. PMID: 32154933, PMCID: PMC7363582, DOI: 10.1002/jbmr.4003.
- Li X, Lozovatsky L, Sukumaran A, Gonzalez L, Jain A, Liu D, Ayala-Lopez N, Finberg KE. NCOA4 is regulated by HIF and mediates mobilization of murine hepatic iron stores after blood loss. Blood 2020, 136: 2691-2702. PMID: 32659785, PMCID: PMC7735158, DOI: 10.1182/blood.2020006321.
- Xavier-Ferrucio J, Scanlon V, Li X, Zhang PX, Lozovatsky L, Ayala-Lopez N, Tebaldi T, Halene S, Cao C, Fleming MD, Finberg KE, Krause DS. Low iron promotes megakaryocytic commitment of megakaryocytic-erythroid progenitors in humans and mice. Blood 2019, 134: 1547-1557. PMID: 31439541, PMCID: PMC6839952, DOI: 10.1182/blood.2019002039.
- Heeney MM, Guo D, De Falco L, Campagna DR, Olbina G, Kao PP, Schmitz-Abe K, Rahimov F, Gutschow P, Westerman K, Ostland V, Jackson T, Klaassen R, Markianos K, Finberg KE, Iolascon A, Westerman M, London WB, Fleming MD. Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency. Blood 2018, 132: 448-455. PMID: 29895660, PMCID: PMC6071554, DOI: 10.1182/blood-2017-03-773028.
- Lih CJ, Harrington RD, Sims DJ, Harper KN, Bouk CH, Datta V, Yau J, Singh RR, Routbort MJ, Luthra R, Patel KP, Mantha GS, Krishnamurthy S, Ronski K, Walther Z, Finberg KE, Canosa S, Robinson H, Raymond A, Le LP, McShane LM, Polley EC, Conley BA, Doroshow JH, Iafrate AJ, Sklar JL, Hamilton SR, Williams PM. Analytical Validation of the Next-Generation Sequencing Assay for a Nationwide Signal-Finding Clinical Trial Molecular Analysis for Therapy Choice Clinical Trial. Journal Of Molecular Diagnostics 2017, 19: 313-327. PMID: 28188106, PMCID: PMC5397672, DOI: 10.1016/j.jmoldx.2016.10.007.
- Heeney MM, Finberg KE. Iron-Refractory Iron Deficiency Anemia (IRIDA). Hematology/Oncology Clinics Of North America 2014, 28: 637-652. PMID: 25064705, DOI: 10.1016/j.hoc.2014.04.009.
- Finberg KE, Whittlesey RL, Andrews NC. Tmprss6 is a genetic modifier of the Hfe-hemochromatosis phenotype in mice. Blood 2011, 117: 4590-4599. PMID: 21355094, PMCID: PMC3099575, DOI: 10.1182/blood-2010-10-315507.
- Finberg KE, Whittlesey RL, Fleming MD, Andrews NC. Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis. Blood 2010, 115: 3817-3826. PMID: 20200349, PMCID: PMC2865872, DOI: 10.1182/blood-2009-05-224808.
- Finberg KE, Heeney MM, Campagna DR, Aydınok Y, Pearson HA, Hartman KR, Mayo MM, Samuel SM, Strouse JJ, Markianos K, Andrews NC, Fleming MD. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nature Genetics 2008, 40: 569-571. PMID: 18408718, PMCID: PMC3104019, DOI: 10.1038/ng.130.
- Finberg KE. Unraveling Mechanisms Regulating Systemic Iron Homeostasis. Hematology 2011, 2011: 532-537. PMID: 22160085, PMCID: PMC3648641, DOI: 10.1182/asheducation-2011.1.532.
- Stagg DB, Whittlesey RL, Li X, Lozovatsky L, Gardenghi S, Rivella S, Finberg KE. Genetic loss of Tmprss6 alters terminal erythroid differentiation in a mouse model of β-thalassemia intermedia. Haematologica 2019, 104: e442-e446. PMID: 30819909, PMCID: PMC6886429, DOI: 10.3324/haematol.2018.213371.
- Jiao J, Finberg K, Jain D, Morotti R. Hepatocellular Adenoma: Report of 2 Cases That Highlight the Relevance of Phenotype-Genotype Correlation in the Pediatric Population. Pediatric And Developmental Pathology 2023, 26: 394-403. PMID: 37334553, DOI: 10.1177/10935266231175426.
- Finberg KE. Blocking (iron) traffic in the gut. Blood 2022, 139: 2424-2425. PMID: 35446376, DOI: 10.1182/blood.2022015480.
- Grant MJ, Finberg KE, Walther Z, Stein SM, Lacy J, Eder JP, Goldberg SB. Yale Precision Medicine Tumor Board: reawakening the guardian of the genome. The Lancet Oncology 2022, 23: 337-338. PMID: 35240081, DOI: 10.1016/s1470-2045(22)00037-7.
- Li H, Zhang X, Finberg KE, Walther Z, Jain D, Gibson J. Pathogenic BRCA2 germline variants in combined hepatocellular‐cholangiocarcinoma. Pathology International 2021, 72: 138-140. PMID: 34808016, DOI: 10.1111/pin.13188.
- Li X, Lozovatsky L, Fretz J, Finberg K. Bone Marrow Sinusoidal Endothelial Cells Are a Site of Fgf23 Upregulation in Iron Deficiency Anemia. Blood 2021, 138: 759. DOI: 10.1182/blood-2021-153329.
- Irshaid L, Clark M, Fadare O, Finberg KE, Parkash V. Endometrial Carcinoma as the Presenting Malignancy in a Teenager With a Pathogenic TP53 Germline Mutation: A Case Report and Literature Review. International Journal Of Gynecological Pathology 2021, 41: 258-267. PMID: 33990091, DOI: 10.1097/pgp.0000000000000792.
- Gibson JA, Finberg KE, Nalbantoglu I, Cecchini M, Ganzak A, Walther Z, Sklar JL, Eder JP, Goldberg SB. Yale Cancer Center Precision Medicine Tumor Board: molecular findings alter a diagnosis and treatment plan. The Lancet Oncology 2021, 22: 306-307. PMID: 33662283, DOI: 10.1016/s1470-2045(20)30683-5.
- Finberg KE. Ironing out an approach to alleviate the hypoferremia of acute inflammation. Haematologica 2021, 106: 326-328. PMID: 33522782, PMCID: PMC7849331, DOI: 10.3324/haematol.2020.266627.
- Ginzburg Y, Finberg K. 12 Iron Metabolism and Related Disorders. 2021, 445-499. DOI: 10.1016/b978-0-12-812535-9.00012-1.
- Womack J, Sukumaran A, Li X, Lozovatsky L, Gallagher PG, Seid JE, Finberg KE. Functional characterization of a novel SLC40A1 Arg88Ile mutation in a kindred with familial iron overload treated by phlebotomy. Blood Cells Molecules And Diseases 2020, 87: 102532. PMID: 33385755, PMCID: PMC8272917, DOI: 10.1016/j.bcmd.2020.102532.
- Hafez N, Walther Z, Eder JP, Sklar JL, Gettinger SN, Finberg KE, Goldberg SB. Yale Cancer Center Precision Medicine Tumor Board: new technology, new drugs, and the value of repeat testing. The Lancet Oncology 2020, 21: 343-344. PMID: 32950226, DOI: 10.1016/s1470-2045(20)30010-3.
- Maracaja DLV, Puthenpura V, Pels SG, O’Malley D, Sklar JL, Finberg KE, Xu ML. EBV-Positive Primary Large B-Cell Lymphoma: The Role of Immunohistochemistry and XPO1 in the Diagnosis of Mediastinal Lymphomas. Applied Immunohistochemistry & Molecular Morphology 2019, 28: 725-730. PMID: 31789821, DOI: 10.1097/pai.0000000000000820.
- Finberg KE. Going solo in iron transport. Blood 2019, 134: 1363-1364. PMID: 31698431, DOI: 10.1182/blood.2019003019.
- Stewart T, Finberg K, Walther Z, Sklar JL, Hafez N, Eder JP, Anderson K, Wilson F, Goldberg SB. Yale Cancer Center Precision Medicine Tumor Board: one tumour, multiple targets. The Lancet Oncology 2018, 19: 1567-1568. PMID: 32956641, DOI: 10.1016/s1470-2045(18)30759-9.
- Clark M, Menderes G, Azodi M, Finberg K, Canosa S, Parkash V. Endometrial carcinoma as the presenting malignancy in an 18-year-old patient with Li-Fraumeni syndrome. Gynecologic Oncology 2016, 141: 183-184. DOI: 10.1016/j.ygyno.2016.04.473.
- Finberg KE. Ironing out the role of Toll-like receptors. Blood 2015, 125: 2183-2184. PMID: 25838278, DOI: 10.1182/blood-2015-02-628412.
- Le LP, Garibyan L, Lara D, Finberg KE, Iafrate AJ, Duncan LM, Kay J, Nazarian RM. Fibrosis-Associated Single-Nucleotide Polymorphisms in TGFB1 and CAV1 Are Not Associated With the Development of Nephrogenic Systemic Fibrosis. American Journal Of Dermatopathology 2013, 35: 351-356. PMID: 23051628, DOI: 10.1097/dad.0b013e31826c5508.
- Finberg KE. Regulation of systemic iron homeostasis. Current Opinion In Hematology 2013, 20: 208-214. PMID: 23426198, DOI: 10.1097/moh.0b013e32835f5a47.
- Finberg KE. Striking the target in iron overload disorders. Journal Of Clinical Investigation 2013, 123: 1424-1427. PMID: 23524962, PMCID: PMC3613936, DOI: 10.1172/jci68889.
- Khuong-Quang DA, Schwartzentruber J, Westerman M, Lepage P, Finberg KE, Majewski J, Jabado N. Iron Refractory Iron Deficiency Anemia: Presentation With Hyperferritinemia and Response to Oral Iron Therapy. Pediatrics 2013, 131: e620-e625. PMID: 23319530, PMCID: PMC3675830, DOI: 10.1542/peds.2012-1303.
- Vedovelli L, Rothermel JT, Finberg KE, Wagner CA, Azroyan A, Hill E, Breton S, Brown D, Păunescu T. Altered V-ATPase expression in renal intercalated cells isolated from B1 subunit-deficient mice by fluorescence-activated cell sorting. American Journal Of Physiology. Renal Physiology 2012, 304: f522-f532. PMID: 23269648, PMCID: PMC3602708, DOI: 10.1152/ajprenal.00394.2012.
- Farris AB, Demicco EG, Le LP, Finberg KE, Miller J, Mandal R, Fukuoka J, Cohen C, Gaissert HA, Zukerberg LR, Lauwers GY, Iafrate AJ, Mino-Kenudson M. Clinicopathologic and Molecular Profiles of Microsatellite Unstable Barrett Esophagus-associated Adenocarcinoma. The American Journal Of Surgical Pathology 2011, 35: 647-655. PMID: 21422910, DOI: 10.1097/pas.0b013e31820f18a2.
- Finberg KE. Iron-Refractory Iron Deficiency Anemia. Seminars In Hematology 2009, 46: 378-386. PMID: 19786206, DOI: 10.1053/j.seminhematol.2009.06.006.
- Finberg KE. Iron homeostasis: casting new roles. Blood 2008, 112: 2181. PMID: 18779402, DOI: 10.1182/blood-2008-06-164327.
- Finberg KE, Sequist LV, Joshi VA, Muzikansky A, Miller JM, Han M, Beheshti J, Chirieac LR, Mark EJ, Iafrate AJ. Mucinous Differentiation Correlates with Absence of EGFR Mutation and Presence of KRAS Mutation in Lung Adenocarcinomas with Bronchioloalveolar Features. Journal Of Molecular Diagnostics 2007, 9: 320-326. PMID: 17591931, PMCID: PMC1899415, DOI: 10.2353/jmoldx.2007.060182.
- Cabot R, Harris N, Shepard J, Rosenberg E, Cort A, Ebeling S, Peters C, Murali M, Kratz A, Finberg K. Case 40-2006 — A 64-Year-Old Man with Anemia and a Low Level of HDL Cholesterol. New England Journal Of Medicine 2006, 355: 2772-2779. PMID: 17192544, DOI: 10.1056/nejmcpc069031.
- Kovacikova J, Winter C, Loffing-Cueni D, Loffing J, Finberg K, Lifton R, Hummler E, Rossier B, Wagner C. The connecting tubule is the main site of the furosemide-induced urinary acidification by the vacuolar H+-ATPase. Kidney International 2006, 70: 1706-1716. PMID: 16985514, DOI: 10.1038/sj.ki.5001851.
- Finberg KE, Wagner CA, Bailey MA, Păunescu T, Breton S, Brown D, Giebisch G, Geibel JP, Lifton RP. The B1-subunit of the H+ ATPase is required for maximal urinary acidification. Proceedings Of The National Academy Of Sciences Of The United States Of America 2005, 102: 13616-13621. PMID: 16174750, PMCID: PMC1224669, DOI: 10.1073/pnas.0506769102.
- Nahed BV, Seker A, Guclu B, Ozturk AK, Finberg K, Hawkins AA, DiLuna ML, State M, Lifton RP, Gunel M. Mapping a Mendelian Form of Intracranial Aneurysm to 1p34.3-p36.13. American Journal Of Human Genetics 2004, 76: 172-179. PMID: 15540160, PMCID: PMC1196421, DOI: 10.1086/426953.
- Wagner CA, Finberg KE, Breton S, Marshansky V, Brown D, Geibel JP. Renal Vacuolar H+-ATPase. Physiological Reviews 2004, 84: 1263-1314. PMID: 15383652, DOI: 10.1152/physrev.00045.2003.
- Finberg K. Mad cow disease in the United States: an update on bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease. Clinical Microbiology Newsletter 2004, 26: 113-118. DOI: 10.1016/j.clinmicnews.2004.07.001.
- Stehberger PA, Schulz N, Finberg KE, Karet FE, Giebisch G, Lifton RP, Geibel JP, Wagner CA. Localization and Regulation of the ATP6V0A4 (a4) Vacuolar H+-ATPase Subunit Defective in an Inherited Form of Distal Renal Tubular Acidosis. Journal Of The American Society Of Nephrology 2003, 14: 3027-3038. PMID: 14638902, DOI: 10.1097/01.asn.0000099375.74789.ab.
- Finberg KE, Wagner CA, Stehberger PA, Geibel JP, Lifton RP. Molecular cloning and characterization of Atp6v1b1, the murine vacuolar H+-ATPase B1-subunit. Gene 2003, 318: 25-34. PMID: 14585495, DOI: 10.1016/s0378-1119(03)00790-x.
- Dou H, Finberg K, Cardell EL, Lifton R, Choo D. Mice lacking the B1 subunit of H+-ATPase have normal hearing. Hearing Research 2003, 180: 76-84. PMID: 12782355, DOI: 10.1016/s0378-5955(03)00108-4.
- Wagner CA, Finberg KE, Stehberger PA, Lifton RP, Giebisch GH, Aronson PS, Geibel JP. Regulation of the expression of the Cl-/anion exchanger pendrin in mouse kidney by acid-base status. Kidney International 2002, 62: 2109-2117. PMID: 12427135, DOI: 10.1046/j.1523-1755.2002.00671.x.
- Smith A, Finberg K, Wagner C, Lifton R, Devonald M, Su Y, Karet F. Molecular Cloning and Characterization of Atp6n1b A NOVEL FOURTH MURINE VACUOLAR H+-ATPase a-SUBUNIT GENE*. Journal Of Biological Chemistry 2001, 276: 42382-42388. PMID: 11495928, DOI: 10.1074/jbc.m107267200.
- Cruz D, Simon D, Nelson-Williams C, Farhi A, Finberg K, Burleson L, Gill J, Lifton R. Mutations in the Na-Cl Cotransporter Reduce Blood Pressure in Humans. Hypertension 2001, 37: 1458-1464. PMID: 11408395, DOI: 10.1161/01.hyp.37.6.1458.
- Karet F, Finberg K, Nayir A, Bakkaloglu A, Ozen S, Hulton S, Sanjad S, Al-Sabban E, Medina J, Lifton R. Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34. American Journal Of Human Genetics 1999, 65: 1656-1665. PMID: 10577919, PMCID: PMC1288376, DOI: 10.1086/302679.
- Karet F, Finberg K, Nelson R, Nayir A, Mocan H, Sanjad S, Rodriguez-Soriano J, Santos F, Cremers C, Pietro A, Hoffbrand B, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton S, Wu D, Skvorak A, Morton C, Cunningham M, Jha V, Lifton R. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nature Genetics 1999, 21: 84-90. PMID: 9916796, DOI: 10.1038/5022.
- Günel M, Awad I, Finberg K, Steinberg G, Craig H, Cepeda O, Carol N, Lifton R. Genetic heterogeneity of inherited cerebral cavernous malformation. Neurosurgery 1996, 38: 1265-71. PMID: 8727164, DOI: 10.1097/00006123-199606000-00059.
- Günel M, Awad I, Finberg K, Steinberg G, Craig H, Cepeda O, Nelson-Williams C, Lifton R. Genetic Heterogeneity of Inherited Cerebral Cavernous Malformation. Neurosurgery 1996, 38: 1265-1271. DOI: 10.1227/00006123-199606000-00059.
- Günel M, Awad I, Finberg K, Anson J, Steinberg G, Batjer H, Kopitnik T, Morrison L, Giannotta S, Nelson-Williams C, Lifton R. A Founder Mutation as a Cause of Cerebral Cavernous Malformation in Hispanic Americans. New England Journal Of Medicine 1996, 334: 946-951. PMID: 8596595, DOI: 10.1056/nejm199604113341503.
- Finberg K, Muth T, Young S, Maken J, Heitritter S, Binns A, Banta L. Interactions of VirB9, -10, and -11 with the membrane fraction of Agrobacterium tumefaciens: solubility studies provide evidence for tight associations. Journal Of Bacteriology 1995, 177: 4881-4889. PMID: 7665464, PMCID: PMC177261, DOI: 10.1128/jb.177.17.4881-4889.1995.
- Burns N, Grimwade B, Ross-Macdonald P, Choi E, Finberg K, Roeder G, Snyder M. Large-scale analysis of gene expression, protein localization, and gene disruption in Saccharomyces cerevisiae. Genes & Development 1994, 8: 1087-1105. PMID: 7926789, DOI: 10.1101/gad.8.9.1087.