Dr. Bessler is currently the Director of The Pediatric and Adult Comprehensive Bone Marrow Failure Center at the Children’s Hospital of Philadelphia and the Perelman School of Medicine University of Pennsylvania Health System in Philadelphia, PA.
Prior to her current position, she was Professor in Internal Medicine and Professor in Molecular Biology and Pharmacology at Washington University School of Medicine in St. Louis, MO.
Dr. Bessler received a physician’s degree from the Medical School of the University of Zurich, Switzerland in 1981 and her medical degree from University of Basel, Switzerland in 1984. Then, in 1994, she received a PhD in genetics from the University of London. She is board certified in Internal Medicine and Hematology.
Her clinical interests include acquired and inherited bone marrow failure, paroxysmal nocturnal hemoglobinuria, dyskeratosis congenita, Diamond Blackfan anemia, Shwachman Diamond syndrome and familial aplastic anemia and myelosdysplastic syndromes (MDS). Furthermore Dr. Bessler has a special interest in pediatric-adult transition for patients with bone marrow failure. She sees pediatric and adult patients and is interested in determining the adult manifestation and treatment of diseases that usually occurs in childhood as well as determining the early clinical signs in children with bone marrow failure conditions that usually only become obvious in the adult.
Outside the clinic her laboratory research aims to define the molecular mechanisms that cause bone marrow failure and the factors that determine the clinical outcome and response to treatment. Bone marrow failure (BMF) is the inability of the bone marrow to produce sufficient blood cells. BMF may be brought about by a number of causes. These may be genetic (inherited bone marrow failure syndromes, IBMFS) or acquired. BMF may affect all, or only individual blood cell lineages. The aims of her research are a) to develop more specific tests or biomarkers that distinguish and diagnose individual forms of BMF, b) to identify the pathways that lead to BMF, c) to characterize the pathways responsible for late complications, such as the development of myelodysplastic syndrome (MDS) and leukemia, and finally d) to investigate specific and more targeted treatments for patients with BMF, allowing personalized therapy for patients with problems in blood cell production.
- Education and Training
MD - University of Zurich, Zurich Switzerland
Clinical Pathology - Kantonspital St. Gallen, University of Basel, Basel, Switzerland
Internal Medicine - Hospital Waid, Zurich University of Zurich, Zurich, Switzerland
Internal Medicine - Hospital Triemli, Zurich, University of Zurich, Zurich, Swi
Research fellow in Clinical Hematology - Department of Hematology, University Hospital of Zurich, Zurich, Switzerland
Research fellow in Clinical Genetics - Institute for Clinical Genetics, University of Zurich, Zurich, Switzerland
Research fellow in Hematology - Royal Postgraduate Medical School, Hammersmith Hospital, London, England
Research Associate - Department of Human Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY
PhD in Genetics - University of London, London, UK
- Titles and Academic Titles
Director, Comprehensive Bone Marrow Failure Center
Buck Family Endowed Chair in Hematology
Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania
Professor of Internal Medicine, Perelman School of Medicine at the University of Pennsylvania
- Departments and Services
Babushok DV and Bessler M. Anemia: Pathophysiology, Diagnosis and Management. Edited by Edward J. Benz, Nancy Berliner and Fred J. Schiffman. Cambridge University Press. 2014 in Press.
Bessler M, Mason PJ, Link DC, Wilson DB. Inherited Bone Marrow Failure Syndromes. In: Orkin, SH Ginsburg, D, Nathan DG, Look, AT, Fisher, DE, Lux, SE, eds. Nathan’s and Oski’s Hematology of Infancy and Childhood. 8th edition. Philadelphia: W.B. Saunders Co; 2014. In press
Bessler M, Mason PJ, Link DC, Wilson DB. Inherited bone marrow failure syndromes. In: Orkin, SH Ginsburg, D, Nathan DG, Look, AT, Fisher, DE, Lux, SE, editors. Nathan’s and Oski’s hematology of infancy and childhood. 7th ed. Philadelphia: W.B. Saunders Co; 2008. p. 307-395.
Du HY, Bessler M, Mason PJ. Telomerase mutations and premature ageing in humans. In: Rudolf KL, editor. Telomeres and telomerase in aging, disease, and cancer. New York: Springer; 2008. p. 77-107.
Bessler M, Kulkarni S, Jasinski M, Schaefer A, Keller P, Tremml G. Mice with blood cells deficient in GPI-linked proteins — the generation of a murine model to investigate the pathogenesis and pathophysiology of paroxysmal nocturnal hemoglobinuria (PNH). Proceedings of the International Symposium on paroxysmal nocturnal hemoglobinuria and related disorders. Tokyo (Japan): Springer-Verlag; 2003. p. 27-40.
Bessler M, Atkinson JP. Paroxysmal nocturnal hemoglobinuria (PNH). In: Stamatoyannopoulos, A. Nienhuis, P. Majerus, H. Varmus, editors. The molecular basis of blood diseases. 2nd ed. Philadelphia: W. B. Saunders Company; 2000. p. 564-79.
Kinoshita T, Bessler M, Takeda J. Animal models of paroxysmal nocturnal hemoglobinuria. In: Paroxysmal nocturnal hemoglobinuria and the glycophosphoinositol-linked proteins. London: Academic Press; 2000. p. 139-55.
Gu BW, Apicella M, Mills J, Fan JM, French D, Podsakoff GM, Bessler M, Mason PJ. Impaired telomere maintenance and decreased canonical WNT signaling but normal ribosome biogenesis in induced pluripotent stem cells from X-linked dyskeratosis congenita patients. PLOS 2015. In press.
Babushok DV, Perdigones, N, Perinc, JC, Olson TS, Yeb, W, Roth, JJ, Lind,C , Cattier C, Li Y, Hartung H, Paessler, ME, Frank, DM, Xie HM, Shanna, C, Cockroft JD, Podsakoff, GM, Monos, D, Biegel, JA, Philip J. Mason, PJ, Bessler, M. Emergence of Clonal Hematopoiesis in the majority of Patients with Acquired Aplastic Anemia. Cancer Genetics 2015. In press. PMID: 25800665 NIHMSID 660724.
Schrezenmeier H, Muus P, Socié G, Szer J, Urbano-Ispizua A, Maciejewski JP, Brodsky RA, Bessler M, Kanakura Y, Rosse W, Khursigara G, Bedrosian C, Hillmen P. Baseline characteristics and disease burden in patients in the international paroxysmal nocturnal hemoglobinuria registry. Haematologica. 2014 May;99(5):922-9. PMID: 24488565, PMCID: PMC4008114.
Pesciotta EN, Sriswasdi S, Tang HY, Speicher DW, Mason PJ, Bessler M. Dysferlin and other non-red cell proteins accumulate in the red cell membrane of diamond-blackfan anemia patients. PLoS One. 2014 Jan 14;9(1):e85504. doi: 10.1371/journal.pone.0085504. PMID:24454878; PMCID: PMC3891812.
Williams D.A, Bennett C, Bertuch A, Bessler M, Coates T, Corey S, Dror Y, Huang J, Lipton J, Olson TS, Reiss UM, Rogers ZR, Sieff C, Vlachos A, Walkovich K, Wang W, Shimamura A. Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): an initial survey of the north american pediatric aplastic anemia consortium (NAPAAC). Pediatric Blood & Cancer 2013, in press. PMCID: PMC3714320
Babushok, D.V., Xie, H.M., Roth, J.J., Perdigones, N., Olson, T.S., Cockroft, J.D., Gai, X., Perin, J.C., Li, Y., Paessler, M.E., Hakonarson, H., Podsakoff, G.M., Mason, P.J., Biegel, J.A. and Bessler, M. Single nucleotide polymorphism analysis of bone marrow failure patients reveals characteristic patterns of genetic changes, Br. J. Haematology, 2013, 2013,88 (10) 862-867. PMID:24116929; PMCID: PMC3986350.
Babushok DV, Li Y, Roth JJ, Perdigones N, Cockroft JD, Biegel JA, Mason JP, Bessler M. Common Polymorphic Deletion of Glutathione S-Transferase Theta Predisposes to Acquired Aplastic Anemia: Independent Cohort and Meta-Analysis of 609 Patients. American Journal of Hematology. 2013 in press. PMID:23798465; PMCID: PMC3983712.
Garcon L, Ge JP, Manjunath S, Mills J, Apicela M, Parikh S, Sullivan L, Podsakof G, Gadue P, French D, Mason PJ, Bessler M, Weiss M. Ribosomal and Hematopoietic Defects in Induced Pluripotent Stem Cells Derived From Diamond Blackfan Anemia Patients. Blood. 2013 122(6):912-921. PMID:23744582; PMCID:PMC3739037.
Gu BW, Ge JP, Fan JM, Bessler M, Mason JP. Slow growth and unstable ribosomal RNA lacking pseudouridine in mouse embryonic fibroblasts cells expressing catalytically inactive dyskerin. FEBS Letters. 2013, 587(14):2112-2117. PMID:23726835; PMCID:PMC3773870.
Olson TS, Chan ES, Paessler ME, Frantz CN, Sullivan K, Russo P, and Bessler M. Liver failure due to hepatic angiosarcoma in an adolescent with dyskeratosis congenita. Journal of Pediatric Hematology and Oncology 2013. In press. PMID:23588325; PMCID:PMC3714320
Vogiatzi P, Perdigones N Mason PJ, Wilson DB Bessler M. A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex. Pediatric Blood & Cancer 2013 60(6):E4-6. doi: 10.1002/pbc.24389. PMID: 23335200. PMCID: PMC3860171.
Posters and Presentations
Paroxysmal Nocturnal Hemoglobinuria (PNH), National Organization for Rare Disorders, White Plane, NY, October 2014.
“Paroxysmal Nocturnal Hemoglobinuria” Bone Marrow Failure Disease Symposium Washington University Medical Center St. Louis, Missouri, October 2014.
“Pediatric Adult Transition” Dyskeratosis outreach. Camp Sunshine Portland, ME, October 2014.
Key Note Speacker. Bone Marrow Failure Disease Symposium at Hershey. “Towards Precision Medicine in BMF”, September 2014.
“Pediatric Adult Transition” Shwachman Diamond Syndrome Foundation. Camp Sunshine Portland, ME, September 2014.
Scientific Program Guest Speaker. Institute for Research in Immunology and Cancer, IRIC-Université de Montréal, CANADA “A systems biology approach to bone marrow failure”, March 2014.
Keynote Speaker, K12 Clinical Hematology Research Scholars Symposium University of Pennsylvania & The Children’s Hospital of Philadelphia. “Following your Passion as a Career Development Plan", May 2014.
New Directions in PNH: What's on the Horizon? 2014 Regional Conference: PNH: Current Thinking on the Disease, Diagnosis, and Treatment. Philadelphia PA, May 2014.
Aplastic Anemia, MDS and PNH. 2014 Regional Conference: PNH: Current Thinking on the Disease, Diagnosis, and Treatment. Philadelphia PA, May 2014.
Keynote Speaker, 10th Annual Texas Children’s Cancer and Hematology Centers, Research Symposium, Huston TX. “Toward Precision Medicine in Bone Marrow Failure”, May 2014.
Paroxysmal Nocturnal Hemoglobinuria (PNH), National Organization for Rare Disorders, Philadelphia, PA, October 2013.
Using IPCs for the investigation of X-linked dyskeratosis congenita. Telomeres and Disease, Banbury Center of Cold Spring Harbor Laboratory, September 2013.
Turning Skin into Blood for DBA: What does the IPSC technology mean for DBA. Portland Main, July 2013.
Paroxysmal Nocturnal Hemoglobinuria (PNH), National Organization for Rare Disorders, Austin, TX, February 2013.
- Awards and Honors
2011, Presidential Lecture at the 53rd Meeting of the America Society of Hematology
2005, Hematology Faculty F1000 Medicine
2003, Bursary Award from the Aplastic Anemia & Myelodysplastic Syndrome International Foundation
2000-2002, Edward Mallinckrodt, Jr. Foundation Award
1998-2000, Junior Faculty Award, American Society of Hematology
1997-2000, James S. McDonnell Fellowship
1995, Ellermann Prize
1991-1994, Weston Scholarship, London UK
1991-1994, Overseas Research Students Award, UK
1991-1993, Fellowship of Walter Honegger Stiftung, Zurich, Switzerland
1990, Prize of the Swiss Society of Hematology
- Editorial and Academic Positions
2008-present, Clinical and Translational Science (CTS), editorial board
2005-present, F1000 Medicine, faculty member
New England Journal of Medicine
The EMBO Journal
The Journal of Clinical Investigation
Brit. Journal of Haematology
Molecular & Cellular Biology
Journal of Laboratory Investigation
Academic and Institutional Committees
2012-present, Clinical Hematology and Transfusion Medical Research Career Development Program (K12) University of Pennsylvania, co-director
Memberships in Professional Organizations
1997-present, European Society of Haematology
1994-present, British Genetics Society
2007-present, Association of American Physicians
2003-present, American Society of Clinical Investigations
1994-present, American Society of Hematology
- Awards and Honors