Constance Tom Noguchi | |
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Born | Constance Tom December 8, 1948 Guangzhou, China |
Education | University of California, Berkeley, George Washington University |
Partner | Philip David Noguchi |
Scientific career | |
Institutions | National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) |
Constance Tom Noguchi (born December 8, 1948) is a research physicist, Chief of the Molecular Cell Biology Section, and Dean of the Foundation for Advanced Education in the Sciences (FAES) Graduate School at the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) of the National Institutes of Health (NIH). Noguchi studies the underlying genetics, metabolism, and treatment of sickle cell disease and of erythropoietin and its effects on metabolism. [1] [2]
Noguchi has published over 250 scientific articles with over 9491 citations. [3] Noguchi is one of 21 Asian Americans profiled in Asian American Biographies (1994) for their contributions to the arts, politics, and science. [4] She is the subject of Scientist and puzzle solver, Constance Tom Noguchi (1985). [5]
Constance Tom was born on December 8, 1948, in Guangzhou (Canton, China) to James Tom and Irene Cheung. Her father was a Chinese-American, and the family soon returned to the United States. [6] Constance Tom grew up in San Francisco, California and married Philip David Noguchi in 1969. [7] [8]
Noguchi studied in mathematics and physics at the University of California, Berkeley, receiving her B.Sc. in 1970. She then attended George Washington University where she received her PhD in theoretical nuclear physics in 1975. [4]
Noguchi joined the National Institutes of Health (NIH) in 1975, as a fellow with Alan N. Schechter at the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). Noguchi became a research physicist at NIDDK in 1985. [4] She became Chief of the Molecular Cell Biology Section of NIDDK in 1994, and Dean of the NIH's Foundation for Advanced Education in the Sciences (FAES) in 1999. [2] [9]
Noguchi studies the underlying genetics, metabolism, and treatment of sickle cell disease, in particular sickle hemoglobin polymerization. [10] [11] Noguchi has developed methods to measure the severity of sickle cell disease, a disease that affects newborns. By measuring oxygen saturation, total hemoglobin concentration, and hemoglobin composition, she calculates the polymer content of sickle cells. Polymer content can be used to choose treatments and assess their effectiveness. [4] Noguchi has studied hydroxyurea and hemoglobin, showing that hydroxyurea can increase a form of fetal hemoglobin in sickle cell disease. [12] [13] Noguchi has also shown that polymer formation correlates with mean corpuscular hemoglobin concentration (MCHC), and will vary from patient to patient. [14]
In 1991, Noguchi isolated and cloned the human erythropoietin receptor gene. [15] [16] Erythropoietin is an essential hormone for red blood cell production that is produced by the kidneys and binds to the erythropoietin receptor (EpoR). [17] When a person's erythrocyte count is higher than the normal range for their sex, the disease state erythrocytosis can occur. Erythrocytosis has been linked to a variety of EpoR gene mutations. [18]
Erythropoietin regulation is involved in metabolism in a number of ways, including oxygen delivery, maintenance of white adipose tissue, and the maintenance of metabolic homeostasis. [17]
Gastroenterology is the branch of medicine focused on the digestive system and its disorders. The digestive system consists of the gastrointestinal tract, sometimes referred to as the GI tract, which includes the esophagus, stomach, small intestine and large intestine as well as the accessory organs of digestion which include the pancreas, gallbladder, and liver.
Hemoglobin is a protein containing iron that facilitates the transport of oxygen in red blood cells. Almost all vertebrates contain hemoglobin, with the sole exception of the fish family Channichthyidae. Hemoglobin in the blood carries oxygen from the respiratory organs to the other tissues of the body, where it releases the oxygen to enable aerobic respiration which powers the animal's metabolism. A healthy human has 12 to 20 grams of hemoglobin in every 100 mL of blood. Hemoglobin is a metalloprotein, a chromoprotein, and globulin.
Thalassemias are inherited blood disorders that result in abnormal hemoglobin. Symptoms depend on the type of thalassemia and can vary from none to severe. Often there is mild to severe anemia as thalassemia can affect the production of red blood cells and also affect how long the red blood cells live. Symptoms of anemia include feeling tired and having pale skin. Other symptoms of thalassemia include bone problems, an enlarged spleen, yellowish skin, pulmonary hypertension, and dark urine. Slow growth may occur in children. Symptoms and presentations of thalassemia can change over time. Older terms included Cooley's anemia and Mediterranean anemia for beta-thalassemia. These have been superseded by the terms Transfusion-Dependent Thalassemia (TDT) and non-Transfusion-Dependent Thalassemia (NTDT). Patients with TDT require regular transfusions, typically every two to five weeks. TDTs include Beta-thalassemia major, nondeletional HbH disease, survived Hb Bart's disease, and severe HbE/beta-thalassemia.
Polycythemia is a laboratory finding in which the hematocrit and/or hemoglobin concentration are increased in the blood. Polycythemia is sometimes called erythrocytosis, and there is significant overlap in the two findings, but the terms are not the same: polycythemia describes any increase in hematocrit and/or hemoglobin, while erythrocytosis describes an increase specifically in the number of red blood cells in the blood.
Fetal hemoglobin, or foetal haemoglobin is the main oxygen carrier protein in the human fetus. Hemoglobin F is found in fetal red blood cells, and is involved in transporting oxygen from the mother's bloodstream to organs and tissues in the fetus. It is produced at around 6 weeks of pregnancy and the levels remain high after birth until the baby is roughly 2–4 months old. Hemoglobin F has a different composition than adult forms of hemoglobin, allowing it to bind oxygen more strongly; this in turn enables the developing fetus to retrieve oxygen from the mother's bloodstream, which occurs through the placenta found in the mother's uterus.
Hydroxycarbamide, also known as hydroxyurea, is a medication used in sickle-cell disease, essential thrombocythemia, chronic myelogenous leukemia, polycythemia vera, and cervical cancer. In sickle-cell disease it increases fetal hemoglobin and decreases the number of attacks. It is taken by mouth.
Glycated hemoglobin is a form of hemoglobin (Hb) that is chemically linked to a sugar. There are several ways to measure glycated hemoglobin, of which HbA1c is a standard single test.
Anemia of chronic disease (ACD) or anemia of chronic inflammation is a form of anemia seen in chronic infection, chronic immune activation, and malignancy. These conditions all produce elevation of interleukin-6, which stimulates hepcidin production and release from the liver. Hepcidin production and release shuts down ferroportin, a protein that controls export of iron from the gut and from iron storing cells. As a consequence, circulating iron levels are reduced. Other mechanisms may also play a role, such as reduced erythropoiesis. It is also known as anemia of inflammation, or anemia of inflammatory response.
National Diabetes Education Program (NDEP) was started by the NIH and CDC in 1997 to educate the public about the risks of diabetes. NDEP's goal was to reduce the illness and death caused by diabetes and its complications. To help meet this goal, NDEP provided free diabetes education information to the public. NDEP ended in 2019.
Hematologic diseases are disorders which primarily affect the blood and blood-forming organs. Hematologic diseases include rare genetic disorders, anemia, HIV, sickle cell disease and complications from chemotherapy or transfusions.
Polycystic kidney disease is a genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts within the kidney. These cysts may begin to develop in utero, in infancy, in childhood, or in adulthood. Cysts are non-functioning tubules filled with fluid pumped into them, which range in size from microscopic to enormous, crushing adjacent normal tubules and eventually rendering them non-functional as well.
Sickle cell disease (SCD), also simply called sickle cell, is a group of hemoglobin-related blood disorders typically inherited. The most common type is known as sickle cell anemia. It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. This leads to a rigid, sickle-like shape under certain circumstances. Problems in sickle cell disease typically begin around 5 to 6 months of age. A number of health problems may develop, such as attacks of pain in joints, anemia, swelling in the hands and feet, bacterial infections, dizziness and stroke. Long-term pain may develop as people get older. The average life expectancy in the developed world is 40 to 60 years. It often gets worse with age. All the major organs are affected by sickle cell disease. The liver, heart, kidneys, gallbladder, eyes, bones, and joints also can suffer damage from the abnormal functions of the sickle cells, and their inability to flow through the small blood vessels correctly.
Congenital hemolytic anemia (CHA) is a diverse group of rare hereditary conditions marked by decreased life expectancy and premature removal of erythrocytes from blood flow. Defects in erythrocyte membrane proteins and red cell enzyme metabolism, as well as changes at the level of erythrocyte precursors, lead to impaired bone marrow erythropoiesis. CAH is distinguished by variable anemia, chronic extravascular hemolysis, decreased erythrocyte life span, splenomegaly, jaundice, biliary lithiasis, and iron overload. Immune-mediated mechanisms may play a role in the pathogenesis of these uncommon diseases, despite the paucity of data regarding the immune system's involvement in CHAs.
Sickle cell nephropathy is a type of kidney disease associated with sickle cell disease which causes kidney complications as a result of sickling of red blood cells in the small blood vessels. The hypertonic and relatively hypoxic environment of the renal medulla, coupled with the slow blood flow in the vasa recta, favors sickling of red blood cells, with resultant local infarction. Functional tubule defects in patients with sickle cell disease are likely the result of partial ischemic injury to the renal tubules.
The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) is part of the United States National Institutes of Health, which in turn is part of the Department of Health and Human Services. NIDDK is approximately the fifth-largest of the 27 NIH institutes. The institute's mission is to support research, training, and communication with the public in the topic areas of "diabetes and other endocrine and metabolic diseases; digestive diseases, nutritional disorders, and obesity; and kidney, urologic, and hematologic diseases". As of 2021, the Director of the institute is Griffin P. Rodgers, who assumed the position on an acting basis in 2006 and on a permanent basis in 2007.
Griffin P. Rodgers is the director of the National Institute of Diabetes and Digestive and Kidney Diseases, one of the 27 institutes that make up the United States National Institutes of Health. He is also the Chief of the institute's Molecular and Clinical Hematology Branch and is known for contributions to research and therapy for sickle cell anemia.
Crizanlizumab, sold under the brand name Adakveo among others, is a monoclonal antibody medication that binds to P-selectin. It is a medication used to reduce the frequency of vaso-occlusive crisis in people aged 16 years and older who have sickle cell anemia. It is given by injection into a vein.
Samuel Charache was an American hematologist and professor at Johns Hopkins University. He led the research team that discovered the first effective treatment for sickle cell disease, a painful and sometimes fatal blood disorder that mainly affects people of African ancestry.
Nancy Ruth Goldman Nossal was an American molecular biologist specialized in the study of DNA replication. She was chief of the laboratory of molecular and cellular biology at the National Institute of Diabetes and Digestive and Kidney Diseases from 1992 to 2006.