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Genomic Medicine Institute
The Genomic Medicine Institute at the Cleveland Clinic is an inter-disciplinary institute and department that focuses on patient care, patient-oriented research, and outreach and education in personalized healthcare guided by genetics and genomics. It is located in the Center for Genomics Research Building in the Cleveland Clinic, in Cleveland, Ohio, United States of America. Goals of the Genomic Medicine Institute The goals of the Genomic Medicine Institute (GMI) span clinical service and translational research, aiming to integrate healthcare delivery with modern human genetics and genomics. The GMI coordinates genomics research across many disciplines, including oncology, cardiology, pediatrics, endocrinology and respiratory medicine. Leadership Charis Eng is the Chair and founding Director of the Genomic Medicine Institute. She holds the Sondra J. and Stephen R. Hardis Endowed Chair of Cancer Genomic Medicine at the Cleveland Clinic and is an American Cancer Society Cli ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Charis Eng
Charis Eng (17 January 1962 – 13 August 2024) was a Singaporean American physician-scientist and geneticist at the Cleveland Clinic, notable for identifying the ''PTEN'' gene. She was the chairwoman and founding director of the Genomic Medicine Institute of the Cleveland Clinic, founding director and attending clinical cancer geneticist of the institute's clinical component, the Center for Personalized Genetic Healthcare, and professor and vice chairwoman of the Department of Genetics and Genome Sciences at Case Western Reserve University School of Medicine. Early life and education Eng was born in Singapore in 1962 to Soo Peck Eng, a lecturer at the Singapore Teacher's Training College and Siok Mui Eng. She grew up in Bristol, England. As a teenager, she moved to the United States while her father pursued his Ph.D. at the University of Chicago. She graduated from the University of Chicago Laboratory Schools and—in order to stay in the U.S. after her father returned ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PTEN (gene)
Phosphatase and tensin homolog (PTEN) is a phosphatase in humans and is encoded by the ''PTEN'' gene. Mutations of this gene are a step in the development of many cancers, specifically glioblastoma, lung cancer, breast cancer, and prostate cancer. Genes corresponding to PTEN (orthologs) have been identified in most mammals for which complete genome data are available. ''PTEN'' acts as a tumor suppressor gene through the action of its phosphatase protein product. This phosphatase is involved in the regulation of the cell cycle, preventing cells from growing and dividing too rapidly. It is a target of many anticancer drugs. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin-like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It nega ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genomics
Genomics is an interdisciplinary field of biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dimensional structural configuration. In contrast to genetics, which refers to the study of ''individual'' genes and their roles in inheritance, genomics aims at the collective characterization and quantification of ''all'' of an organism's genes, their interrelations and influence on the organism. Genes may direct the production of proteins with the assistance of enzymes and messenger molecules. In turn, proteins make up body structures such as organs and tissues as well as control chemical reactions and carry signals between cells. Genomics also involves the sequencing and analysis of genomes through uses of high throughput DNA sequencing and bioinformatics to assemble and analyze the function and structure of entire genomes. Advances in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lerner Research Institute
Lerner is a German and Jewish family name. Its literal meaning can be either "student" or "scholar". It may refer to: Organizations * Lerner Enterprises, a real estate company * Lerner Newspapers * Lerner Publishing Group, a publisher of children's literature * Lerner New York, the former name of the New York & Company clothing chain People * Aaron Bunsen Lerner (1920–2007), American physician, researcher and professor * Abba Lerner, American economist * Adam Lerner, American museum curator * Al Lerner, billionaire, chairman of MBNA * Al Lerner (composer), American musician, pianist, and big band leader * Alan Jay Lerner, American lyricist and librettist * Alejandro Lerner, Argentine musician * Avi Lerner, film producer * Barron H. Lerner, American professor of medicine * Ben Lerner, American poet * Claire Lerner, non-profit director * David Lerner (1951-1997?), American poet * Edward (Ned) Lerner, computer-game maker * Edward M. Lerner, science-fiction writer * Eri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bioinformatics
Bioinformatics () is an interdisciplinary field that develops methods and software tools for understanding biological data, in particular when the data sets are large and complex. As an interdisciplinary field of science, bioinformatics combines biology, chemistry, physics, computer science, information engineering, mathematics and statistics to analyze and interpret the biological data. Bioinformatics has been used for '' in silico'' analyses of biological queries using computational and statistical techniques. Bioinformatics includes biological studies that use computer programming as part of their methodology, as well as specific analysis "pipelines" that are repeatedly used, particularly in the field of genomics. Common uses of bioinformatics include the identification of candidates genes and single nucleotide polymorphisms (SNPs). Often, such identification is made with the aim to better understand the genetic basis of disease, unique adaptations, desirable properties (e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Esophageal Cancer
Esophageal cancer is cancer arising from the esophagus—the food pipe that runs between the throat and the stomach. Symptoms often include difficulty in swallowing and weight loss. Other symptoms may include pain when swallowing, a hoarse voice, enlarged lymph nodes ("glands") around the collarbone, a dry cough, and possibly coughing up or vomiting blood. The two main sub-types of the disease are esophageal squamous-cell carcinoma (often abbreviated to ESCC), which is more common in the developing world, and esophageal adenocarcinoma (EAC), which is more common in the developed world. A number of less common types also occur. Squamous-cell carcinoma arises from the epithelial cells that line the esophagus. Adenocarcinoma arises from glandular cells present in the lower third of the esophagus, often where they have already transformed to intestinal cell type (a condition known as Barrett's esophagus). Causes of the squamous-cell type include tobacco, alcohol, very hot drinks, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Barrett Esophagus
Barrett's esophagus is a condition in which there is an abnormal (metaplastic) change in the mucosal cells lining the lower portion of the esophagus, from stratified squamous epithelium to simple columnar epithelium with interspersed goblet cells that are normally present only in the small intestine and large intestine. This change is considered to be a premalignant condition because it is associated with a high incidence of further transition to esophageal adenocarcinoma, an often-deadly cancer. The main cause of Barrett's esophagus is thought to be an adaptation to chronic acid exposure from reflux esophagitis. Barrett's esophagus is diagnosed by endoscopy: observing the characteristic appearance of this condition by direct inspection of the lower esophagus; followed by microscopic examination of tissue from the affected area obtained from biopsy. The cells of Barrett's esophagus are classified into four categories: nondysplastic, low-grade dysplasia, high-grade dysplasia, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
2q37 Deletion Syndrome
2q37 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 2 in which one or more of 3 sub-bands, 2q37.1, 2q37.2, and 2q37.3, of the last band of one of the chromosome 2’s long arms are deleted. The first report of this disorder was in 1989. Symptoms and signs The earliest signs and symptoms occur in newborns and consist of hypotonia, but show up in youth as developmental delays, low muscle tone, learning disabilities, being overweight, autism-like symptoms, seizures, eczema, asthma, chest and ear infections, and abnormalities in face, hands, and feet such as brachydactyly. Autism-like symptoms consist of odd obsessions, repetitive behavior, poor use of eye contact, impaired speech, poor understanding of others’ emotions, idiosyncratic use of words or phrases. People with this disorder also tend to have a characteristic appearance, including prominent forehead, thin, highly arched eyebrows, depressed nasal bridge, full cheeks, deficient nasal al ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hamartomatous
A hamartoma is a mostly benign, local malformation of cells that resembles a neoplasm of local tissue but is usually due to an overgrowth of multiple aberrant cells, with a basis in a systemic genetic condition, rather than a growth descended from a single mutated cell ( monoclonality), as would typically define a benign neoplasm/tumor. Despite this, many hamartomas are found to have clonal chromosomal aberrations that are acquired through somatic mutations, and on this basis the term ''hamartoma'' is sometimes considered synonymous with neoplasm. Hamartomas are by definition benign, slow-growing or self-limiting, though the underlying condition may still predispose the individual towards malignancies. Hamartomas are usually caused by a genetic syndrome that affects the development cycle of all or at least multiple cells. Many of these conditions are classified as overgrowth syndromes or cancer syndromes. Hamartomas occur in many different parts of the body and are most often asy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Paragangliomas
A paraganglioma is a rare neuroendocrine neoplasm that may develop at various body sites (including the head, neck, thorax and abdomen). When the same type of tumor is found in the adrenal gland, they are referred to as a pheochromocytoma. They are rare tumors, with an overall estimated incidence of 1/300,000. There is no test that determines benign from malignant tumors; long-term follow-up is therefore recommended for all individuals with paraganglioma. Signs and symptoms Most paragangliomas are asymptomatic, present as a painless mass, or create symptoms such as hypertension, tachycardia, headache, and palpitations. While all contain neurosecretory granules, only in 1–3% of cases is secretion of hormones such as catecholamines abundant enough to be clinically significant; in that case manifestations often resemble those of pheochromocytomas (intra-medullary paraganglioma). Genetics About 75% of paragangliomas are sporadic; the remaining 25% are hereditary (and have an increa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pheochromocytoma
Pheochromocytoma (PHEO or PCC) is a rare tumor of the adrenal medulla composed of chromaffin cells, also known as pheochromocytes. When a tumor composed of the same cells as a pheochromocytoma develops outside the adrenal gland, it is referred to as a paraganglioma. These neuroendocrine tumors are capable of producing and releasing massive amounts of catecholamines, metanephrines, or methoxytyramine, which result in the most common symptoms, including hypertension (high blood pressure), tachycardia (fast heart rate), and diaphoresis (sweating). However, not all of these tumors will secrete catecholamines. Those that do not are referred to as biochemically silent, and are predominantly located in the head and neck. While patients with biochemically silent disease will not develop the typical disease manifestations described above, the tumors grow and compress the surrounding structures of the head and neck, and can result in pulsatile tinnitus (ringing of the ear), hearing loss, au ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
