Mary V. Relling | |
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Academic background | |
Education | BS, University of Arizona College of Pharmacy PharmD, University of Utah College of Pharmacy |
Thesis | Comparison of the predictive utility of two methods of dosing tobramycin in cystic fibrosis patients (1985) |
Academic work | |
Institutions | St. Jude Children's Research Hospital University of Tennessee |
Mary Violet Relling [1] is an American pharmacogeneticist. Relling's research focuses on pharmacokinetics and pharmacodynamics in children and how genome variability influences a child's response to cancer chemotherapy.
Relling completed her Bachelor of Science degree at the University of Arizona College of Pharmacy and her PharmD at the University of Utah College of Pharmacy. [2]
Upon completing her PharmD,Relling joined St. Jude Children's Research Hospital as a faculty member in 1988. [2] She also accepted a professorship position at the University of Tennessee in clinical pharmacy and pharmaceutical sciences. In her research,she focused on antineoplastic PK and PD in children,pharmacogenetics of antileukemia therapy and host- and treatment-related risk factors for secondary malignancies. [3] In 2007,while serving as Chair of the Pharmaceutical Department,Relling led a study on the impact of inherited polymorphisms on patients with acute lymphoblastic leukaemia. The aim of the study was to see if this knowledge could allow individual tailoring of therapy. [4]
While serving as Chair of the Pharmaceutical Department at St. Jude Children's Research Hospital,Relling focused on improving drug therapy for childhood leukaemia. In recognition of her research,she was the co-recipient of the 2009 Paediatric Oncology Award from the American Society of Clinical Oncology. [5] Later that year,she led the first genomewide association study to check for genetic variations linked to acute lymphoblastic leukemia. [6] Relling also co-established The Clinical Pharmacogenetics Implementation Consortium (CPIC) to "provide freely available,evidence‐based,peer‐reviewed,and updated pharmacogenetic clinical practice guidelines." [7] As a result of her research,Relling was elected to the National Academy of Medicine in 2009 alongside colleague Michael B. Kastan. [8] The following year,Relling was the senior author of the "first genome-wide study to demonstrate an inherited genetic basis for racial and ethnic disparities in cancer survival linked Native American ancestry with an increased risk of relapse in young leukemia patients." [9] She was also the recipient of the Sumner J. Yaffe Lifetime Award in Pediatric Pharmacology and Therapeutics [10] and Award for Clinical Service from the Institute for Pharmacogenomics and Individualized Therapy at the University of North Carolina at Chapel Hill. [11] In 2013,Relling was the recipient of the Rawls-Palmer Progress in Medicine Award for her "efforts of modern research in patient care and to help bridge the gap between the results of research and its application in patient care." [12] The following year,she was the recipient of the Rigshospitalet's International KFJ Award for "her work to improve treatment for children suffering from leukaemia using customised medication." [13]
While serving with the National Institutes of Health Pharmacogenomics Research Network (PGRN),Relling received a grant to develop better ways to predict how patients will respond to the drugs they're given. [14] She also helped identify a rare genetic variation associated with a dramatically increased risk of severe acute pancreatitis in acute lymphoblastic leukemia patients treated with the chemotherapy agent asparaginase. [15] During the COVID-19 pandemic,Relling stepped down as chair of the Department of Pharmaceutical Sciences at St. Jude Children's Research Hospital. [16] She later collaborated with Jun J. Yang investigating the inherited genetics of childhood leukemia and how particular gene variations can affect treatment outcomes. [17] Near the conclusion of 2020,Relling was named to the 2020 list of Highly Cited Researchers. [18]
Leukemia,also known as leukaemia,is a group of blood cancers that usually begin in the bone marrow and result in high numbers of abnormal blood cells. These blood cells are not fully developed and are called blasts or leukemia cells. Symptoms may include bleeding and bruising,bone pain,fatigue,fever,and an increased risk of infections. These symptoms occur due to a lack of normal blood cells. Diagnosis is typically made by blood tests or bone marrow biopsy.
Acute lymphoblastic leukemia (ALL) is a cancer of the lymphoid line of blood cells characterized by the development of large numbers of immature lymphocytes. Symptoms may include feeling tired,pale skin color,fever,easy bleeding or bruising,enlarged lymph nodes,or bone pain. As an acute leukemia,ALL progresses rapidly and is typically fatal within weeks or months if left untreated.
Pharmacogenomics is the study of the role of the genome in drug response. Its name reflects its combining of pharmacology and genomics. Pharmacogenomics analyzes how the genetic makeup of an individual affects their response to drugs. It deals with the influence of acquired and inherited genetic variation on drug response in patients by correlating gene expression or single-nucleotide polymorphisms with pharmacokinetics and pharmacodynamics. The term pharmacogenomics is often used interchangeably with pharmacogenetics. Although both terms relate to drug response based on genetic influences,pharmacogenetics focuses on single drug-gene interactions,while pharmacogenomics encompasses a more genome-wide association approach,incorporating genomics and epigenetics while dealing with the effects of multiple genes on drug response.
St. Jude Children's Research Hospital,founded in 1962,is a pediatric treatment and research facility focused on children's catastrophic diseases,particularly leukemia and other cancers. The hospital costs about US$2.8 million a day to run,but patients are not charged for their care. It is located in Memphis,Tennessee,and is a nonprofit medical corporation designated as a 501(c)(3) tax-exempt organization by the Internal Revenue Service. St. Jude treats infants,children,teens,and young adults up to age 21 and for some conditions,age 25.
Mercaptopurine (6-MP),sold under the brand name Purinethol among others,is a medication used for cancer and autoimmune diseases. Specifically it is used to treat acute lymphocytic leukemia (ALL),chronic myeloid leukemia (CML),Crohn's disease,and ulcerative colitis. For acute lymphocytic leukemia it is generally used with methotrexate. It is taken by mouth.
Tioguanine,also known as thioguanine or 6-thioguanine (6-TG) is a medication used to treat acute myeloid leukemia (AML),acute lymphocytic leukemia (ALL),and chronic myeloid leukemia (CML). Long-term use is not recommended. It is given by mouth.
Dasatinib,sold under the brand name Sprycel among others,is a targeted therapy medication used to treat certain cases of chronic myelogenous leukemia (CML) and acute lymphoblastic leukemia (ALL). Specifically it is used to treat cases that are Philadelphia chromosome-positive (Ph+). It is taken by mouth.
Forodesine is a transition-state analog inhibitor of purine nucleoside phosphorylase studied for the treatment of patients with T-cell acute lymphoblastic leukemia (T-ALL) and for treatment of B-cell acute lymphocytic leukemia (B-ALL).
Donald Paul Pinkel is an American medical doctor who specializes in pediatric hematology and oncology. He was born in Buffalo,New York and graduated from Canisius High School in 1944. He has made contributions to cures for several forms of childhood cancer,including leukemia. He has received many awards and recognitions for his research work,including the Albert Lasker Award for Clinical Medical Research in 1972,the Kettering Prize for cancer research in 1986,and the Pollin Prize for Pediatric Research in 2003. Pinkel was the first director of St. Jude Children's Research Hospital in Memphis,Tennessee,serving from 1962 to 1973. He has also authored or co-authored numerous books,chapters in books,and journal articles.
Dr. William E. Evans,Pharm.D. served as St. Jude Children’s Research Hospital’s fifth director and CEO from 2004 to 2014. From 1986 to 2002,he chaired the St. Jude Department of Pharmaceutical Sciences,and from 2002 to 2004 served as the hospital’s scientific director and executive vice president. He also currently holds the St. Jude Professorship and Endowed chair at the University of Tennessee College of Medicine and Pharmacy.
The Simon Flavell Leukaemia Research Laboratory is based at Southampton General Hospital and named after ten-year-old Simon Flavell who died in 1990 from an aggressive form of T-cell acute lymphoblastic leukemia (ALL). The laboratory specialises in researching and developing antibody type treatments for adults and children with currently incurable types of leukaemia.
Clara Derber Bloomfield,was an American physician and cancer researcher. Her work focused on the genetic changes that are present in certain types of blood cancers,and how those can be utilized to improve treatment for the affected patients.
The Pharmacogenomics Knowledge Base (PharmGKB) is a publicly available,online knowledge base responsible for the aggregation,curation,integration and dissemination of knowledge regarding the impact of human genetic variation on drug response. It is funded by the National Institutes of Health (NIH) National Institute of General Medical Sciences (NIGMS),and is a partner of the NIH Pharmacogenomics Research Network (PGRN). It has been managed at Stanford University since its inception in 2000.
Nudix hydrolase 15 is a protein that in humans is encoded by the NUDT15 gene.
Christine J. Harrison is a Professor of Childhood Cancer Cytogenetics at Newcastle University. She works on acute leukemia and used cytogenetics to optimise treatment protocols.
Cancer pharmacogenomics is the study of how variances in the genome influences an individual’s response to different cancer drug treatments. It is a subset of the broader field of pharmacogenomics,which is the area of study aimed at understanding how genetic variants influence drug efficacy and toxicity.
T-Cell Lymphoblastic Leukemia (T-ALL) is a type of acute lymphoblastic leukemia with aggressive malignant neoplasm of the bone marrow. Acute Lymphoblastic Leukemia (ALL) is a condition where immature white blood cells accumulate in the bone marrow,subsequently crowding out normal white blood cells and create build-up in the liver,spleen,and lymph nodes. The two most common types of ALL are B-Lymphocytes and T-Lymphocytes,where the first protects the body against viruses and bacteria through antibody production which can directly destroy target cells or trigger others to do so,whilst the latter directly destroy bacteria or cells infected with viruses. Approximately 20% of all ALL patients are categorized specifically to suffer from T-ALL and it is seen to be more prevalent in the adult population in comparison to children,with incidences shown to diminish with age. Amongst T-ALL cases in the pediatric population,a median onset of age 9 has been identified and the disease is particularly prominent amongst adolescents. The disease stems from cytogenic and molecular abnormalities,resulting in disruption of developmental pathways controlling thymocyte development,tumor suppressor development,and alterations in control of cell growth and proliferation. Distinct from adult T-Cell Leukemia where T-Cell Lymphotropic Virus Type I causes malignant maturation of T-cells,T-ALL is a precursor for lymphoid neoplasm. Its clinical presentation most commonly includes infiltration of the central nervous system (CNS),and further identifies mediastinal mass presence originating from the thymus,along with extramedullary involvement of multiple organs including the lymph node as a result of hyperleukocytosis.
Julie Ann Johnson is an American clinical pharmacist and translational scientist. She is the Dean and Distinguished Professor in the University of Florida College of Pharmacy and a Member of the National Academy of Medicine. For four consecutive years,she was a Clarivate Analytics Highly Cited Researcher in Pharmacology and Toxicology,indicating she was one of the "world's leading scholars in the sciences and social sciences in the preceding decade."
Howard L. McLeod is an American pharmacogeneticist and implementation scientist specialized in precision medicine.
Stephan A. Grupp is an American pediatric oncologist. He is the Chief of the Cell Therapy and Transplant Section in the Division of Oncology and Director of the Cancer Immunotherapy Program at the Children's Hospital of Philadelphia and Professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania. In 2019,Grupp was elected a Member of the National Academy of Medicine.