Elaine Zackai
   HOME
*





Elaine Zackai
Elaine H. Zackai is a Professor of Pediatrics, Director of Clinical Genetics, and the Director of the Clinical Genetics Center at Children's Hospital of Philadelphia (CHOP). Biography She was born in Brooklyn in 1943, to a metallurgist and a high school teacher. Zackai completed her B.A. at the New York University College of Arts & Science in 1964, followed by her M.D. at New York University School of Medicine in 1968. She is a member of multiple professional organisations, sits on multiple academic and institutional committees, and holds multiple professorships. She is also a founding Fellow of the American College of Medical Genetics and Genomics. Research Her research has included genetic factors relating to birth defects, syndromes relating to chromosomal translocation, and 22q gene deletion. Awards and honours * 1991 - Fellow, College of Physicians of Philadelphia * 2002 - Blockley-Osler Award * 2003 - Letitia and Alice Scott Endowed Chair in Genetics and Molecular Biolo ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

Gene Deletion
In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome. Some chromosomes have fragile spots where breaks occur which result in the deletion of a part of chromosome. The breaks can be induced by heat, viruses, radiations, chemicals. When a chromosome breaks, a part of it is deleted or lost, the missing piece of chromosome is referred to as deletion or a deficiency. For synapsis to occur between a chromosome with a large intercalary deficiency and a normal complete homolog, the unpaired region of the normal homolog must loop out of the linear structure into a deletion or compensation loop. The smallest single base deletion mutations occur by a single base flipping in the template DNA, followed by template DNA strand slip ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


New York University Alumni
New is an adjective referring to something recently made, discovered, or created. New or NEW may refer to: Music * New, singer of K-pop group The Boyz Albums and EPs * ''New'' (album), by Paul McCartney, 2013 * ''New'' (EP), by Regurgitator, 1995 Songs * "New" (Daya song), 2017 * "New" (Paul McCartney song), 2013 * "New" (No Doubt song), 1999 *"new", by Loona from '' Yves'', 2017 *"The New", by Interpol from ''Turn On the Bright Lights'', 2002 Acronyms * Net economic welfare, a proposed macroeconomic indicator * Net explosive weight, also known as net explosive quantity * Network of enlightened Women, a conservative university women's organization * Next Entertainment World, a South Korean film distribution company Identification codes * Nepal Bhasa language ISO 639 language code * New Century Financial Corporation (NYSE stock abbreviation) * Northeast Wrestling, a professional wrestling promotion in the northeastern United States Transport * New Orleans Lakefront Ai ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


American Pediatricians
American(s) may refer to: * American, something of, from, or related to the United States of America, commonly known as the "United States" or "America" ** Americans, citizens and nationals of the United States of America ** American ancestry, people who self-identify their ancestry as "American" ** American English, the set of varieties of the English language native to the United States ** Native Americans in the United States, indigenous peoples of the United States * American, something of, from, or related to the Americas, also known as "America" ** Indigenous peoples of the Americas * American (word), for analysis and history of the meanings in various contexts Organizations * American Airlines, U.S.-based airline headquartered in Fort Worth, Texas * American Athletic Conference, an American college athletic conference * American Recordings (record label), a record label previously known as Def American * American University, in Washington, D.C. Sports teams Soccer * B ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  




American Women Scientists
American(s) may refer to: * American, something of, from, or related to the United States of America, commonly known as the "United States" or "America" ** Americans, citizens and nationals of the United States of America ** American ancestry, people who self-identify their ancestry as "American" ** American English, the set of varieties of the English language native to the United States ** Native Americans in the United States, indigenous peoples of the United States * American, something of, from, or related to the Americas, also known as "America" ** Indigenous peoples of the Americas * American (word), for analysis and history of the meanings in various contexts Organizations * American Airlines, U.S.-based airline headquartered in Fort Worth, Texas * American Athletic Conference, an American college athletic conference * American Recordings (record label), a record label previously known as Def American * American University, in Washington, D.C. Sports teams Soccer * ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


Living People
Related categories * :Year of birth missing (living people) / :Year of birth unknown * :Date of birth missing (living people) / :Date of birth unknown * :Place of birth missing (living people) / :Place of birth unknown * :Year of death missing / :Year of death unknown * :Date of death missing / :Date of death unknown * :Place of death missing / :Place of death unknown * :Missing middle or first names See also * :Dead people * :Template:L, which generates this category or death years, and birth year and sort keys. : {{DEFAULTSORT:Living people 21st-century people People by status ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


American Society Of Human Genetics
The American Society of Human Genetics (ASHG), founded in 1948, is a professional membership organization for specialists in human genetics. As of 2009, the organization had approximately 8,000 members. The Society's members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses, and others who have a special interest in the field of human genetics. As the field of human genetics has expanded, ASHG has founded additional organizations within its membership body, including the following: * National Society of Genetic Counselors, founded in 1979, as an advocacy group for the nascent field of genetic counseling. * American Board of Medical Genetics, founded in 1981, to certify practitioners in human genetics. * American Board of Genetic Counseling, founded in 1991, to certify genetic counselors. * American College of Medical Genetics, founded in 1991, as a specialty board for medical geneticists at the doctoral level. It achieve ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

College Of Physicians Of Philadelphia
The College of Physicians of Philadelphia is the oldest private medical society in the United States. Founded in 1787 by 24 Philadelphia physicians "to advance the Science of Medicine, and thereby lessen human misery, by investigating the diseases and remedies which are peculiar to our country" and to promote "order and uniformity in the practice of Physick," it has made important contributions to medical education and research. The College hosts the Mütter Museum, a gallery of 19th-century specimens, teaching models, instruments, and photographs, as well as the Historical Medical Library, which is one of the country's oldest medical libraries. The College of Physicians of Philadelphia Building, designed by the firm of Cope & Stewardson and built in 1909, was designated a U.S. National Historic Landmark in October, 2008. It was also then listed on the National Register of Historic Places. Current programs The College remains a private membership organization of physicians, whose ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

Chromosomal Translocation
In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes balanced and unbalanced translocation, with two main types: reciprocal-, and Robertsonian translocation. Reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes. Two detached fragments of two different chromosomes are switched. Robertsonian translocation occurs when two non-homologous chromosomes get attached, meaning that given two healthy pairs of chromosomes, one of each pair "sticks" and blends together homogeneously. A gene fusion may be created when the translocation joins two otherwise-separated genes. It is detected on cytogenetics or a karyotype of affected cells. Translocations can be balanced (in an even exchange of material with no genetic information extra or missing, and ideally full functionality) or unbalanced (where the exchange of chromosome material is unequal resulting in extra ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

Pediatrics
Pediatrics ( also spelled ''paediatrics'' or ''pædiatrics'') is the branch of medicine that involves the medical care of infants, children, adolescents, and young adults. In the United Kingdom, paediatrics covers many of their youth until the age of 18. The American Academy of Pediatrics recommends people seek pediatric care through the age of 21, but some pediatric subspecialists continue to care for adults up to 25. Worldwide age limits of pediatrics have been trending upward year after year. A medical doctor who specializes in this area is known as a pediatrician, or paediatrician. The word ''pediatrics'' and its cognates mean "healer of children," derived from the two Greek words: (''pais'' "child") and (''iatros'' "doctor, healer"). Pediatricians work in clinics, research centers, universities, general hospitals and children's hospitals, including those who practice pediatric subspecialties (e.g. neonatology requires resources available in a NICU). History The ear ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


American College Of Medical Genetics And Genomics
The American College of Medical Genetics and Genomics (ACMG) is an organization composed of biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other health care professionals committed to the practice of medical genetics. History The ACMG, incorporated in 1991, stated mission to give national representation to providers of genetic services and their patients with genetic disorders; to provide education and resources for the medical genetics profession; to improve the health of the public by promoting the development and implementation of methods to diagnose, treat and prevent genetic disease. In 1993, ACMG publishes the first edition of the ''ACMG Standards and Guidelines for Clinical Genetic Laboratories'' and supports the formation of the American Board of Genetic Counseling. The first ''Annual Clinical Genetic Meeting'' is held in 1994. Next year, the College becomes a full member of the Council of Medical Specialty Societies. ACMG ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]  


picture info

Brooklyn
Brooklyn () is a borough of New York City, coextensive with Kings County, in the U.S. state of New York. Kings County is the most populous county in the State of New York, and the second-most densely populated county in the United States, behind New York County (Manhattan). Brooklyn is also New York City's most populous borough,2010 Gazetteer for New York State
. Retrieved September 18, 2016.
with 2,736,074 residents in 2020. Named after the Dutch village of Breukelen, Brooklyn is located on the w ...
[...More Info...]      
[...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]