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Hans Eiberg
Hans Eiberg, (born 8 April 1945) is a Danish geneticist, known for his discovery of the genetic mutation causing blue eyes. Hans Eiberg graduated as a M.Sc. in 1970. He has worked with genetics at the Institute for Medical Biochemistry and Genetics of Copenhagen University since 1971, and became an associate professor at the institute in 1975. In 1972, he and professor Jan Mohr established the Copenhagen Family Bank, a database of DNA samples from approximately 1000 large Danish families. Hans Eiberg contributed to the mapping of the human genome, and has succeeded in finding important genetic markers for several serious illnesses such as cystic fibrosis, Batten disease and various diseases of the eye. He has also shown that bedwetting Nocturnal enuresis, also informally called bedwetting, is involuntary urination while asleep after the age at which bladder control usually begins. Bedwetting in children and adults can result in emotional stress. Complications can incl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Geneticist
A geneticist is a biologist or physician who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a scientist or a lecturer. Geneticists may perform general research on genetic processes or develop genetic technologies to aid in the pharmaceutical or and agriculture industries. Some geneticists perform experiments in model organisms such as ''Drosophila'', ''C. elegans'', zebrafish, rodents or humans and analyze data to interpret the inheritance of biological traits. A basic science geneticist is a scientist who usually has earned a PhD in genetics and undertakes research and/or lectures in the field. A medical geneticist is a physician who has been trained in medical genetics as a specialization and evaluates, diagnoses, and manages patients with hereditary conditions or congenital malformations; and provides genetic risk calculations and mutation analysis. Education Geneticists participate in courses from many are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetics
Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene. Trait inheritance and molecular inheritance mechanisms of genes are still primary principles of genetics in the 21st century, but modern genetics has expanded to study the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the cell, the organism (e.g. dominance), and within the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Eye Color
Eye color is a polygenic phenotypic character determined by two distinct factors: the pigmentation of the eye's iris and the frequency-dependence of the scattering of light by the turbid medium in the stroma of the iris. In humans, the pigmentation of the iris varies from light brown to black, depending on the concentration of melanin in the iris pigment epithelium (located on the back of the iris), the melanin content within the iris stroma (located at the front of the iris), and the cellular density of the stroma. The appearance of blue, green, and hazel eyes results from the Tyndall scattering of light in the stroma, a phenomenon similar to that which accounts for the blueness of the sky called Rayleigh scattering. Neither blue nor green pigments are ever present in the human iris or ocular fluid. Eye color is thus an instance of structural color and varies depending on the lighting conditions, especially for lighter-colored eyes. The brightly colored eyes of many bird ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Copenhagen University
The University of Copenhagen ( da, Københavns Universitet, KU) is a prestigious public research university in Copenhagen, Denmark. Founded in 1479, the University of Copenhagen is the second-oldest university in Scandinavia after Uppsala University, and ranks as one of the top universities in the Nordic countries, Europe and the world. Its establishment sanctioned by Pope Sixtus IV, the University of Copenhagen was founded by Christian I of Denmark as a Catholic teaching institution with a predominantly theological focus. In 1537, it was re-established by King Christian III as part of the Lutheran Reformation. Up until the 18th century, the university was primarily concerned with educating clergymen. Through various reforms in the 18th and 19th century, the University of Copenhagen was transformed into a modern, secular university, with science and the humanities replacing theology as the main subjects studied and taught. The University of Copenhagen consists of six different ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Professor
Professor (commonly abbreviated as Prof.) is an Academy, academic rank at university, universities and other post-secondary education and research institutions in most countries. Literally, ''professor'' derives from Latin as a "person who professes". Professors are usually experts in their field and teachers of the highest rank. In most systems of List of academic ranks, academic ranks, "professor" as an unqualified title refers only to the most senior academic position, sometimes informally known as "full professor". In some countries and institutions, the word "professor" is also used in titles of lower ranks such as associate professor and assistant professor; this is particularly the case in the United States, where the unqualified word is also used colloquially to refer to associate and assistant professors as well. This usage would be considered incorrect among other academic communities. However, the otherwise unqualified title "Professor" designated with a capital let ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Jan Mohr
Jan Gunnar Faye Mohr (10 January 1921 – 17 March 2009) was a Norwegian-Danish physician and geneticist, known for his discovery of the first cases of autosomal genetic linkage in man, between the Lutheran blood groups and the ABH-secretor system, and between these and the hereditary disease myotonic dystrophy. Besides being first steps in mapping the human genome, the findings illustrated the medical potential of linkage analysis in prenatal genetic diagnosis. Mohr is eponymously known by the syndrome Mohr-Tranebjærg, a progressive deafness with X-linked mode of inheritance, which was first described by Jan Mohr, and then more comprehensively by Tranebjærg et al. The 'Mohr syndrome', or oral-facial-digital syndrome type II, is named after Otto Lous Mohr, uncle of Jan Mohr. Biography Jan Mohr was born 1921 in Paris. His father was the Norwegian painter Hugo Lous Mohr. Jan Mohr graduated 1948 from medical school, Oslo University. Then, under the Rockefeller Foundation, studi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Genome
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. These are usually treated separately as the nuclear genome and the mitochondrial genome. Human genomes include both protein-coding DNA sequences and various types of DNA that does not encode proteins. The latter is a diverse category that includes DNA coding for non-translated RNA, such as that for ribosomal RNA, transfer RNA, ribozymes, small nuclear RNAs, and several types of regulatory RNAs. It also includes promoters and their associated gene-regulatory elements, DNA playing structural and replicatory roles, such as scaffolding regions, telomeres, centromeres, and origins of replication, plus large numbers of transposable elements, inserted viral DNA, non-functional pseudogenes and simple, highly-repetitive sequences. Introns make up a large percentage of non-coding DNA. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cystic Fibrosis
Cystic fibrosis (CF) is a rare genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. Other signs and symptoms may include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in most males. Different people may have different degrees of symptoms. Cystic fibrosis is inherited in an autosomal recessive manner. It is caused by the presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Those with a single working copy are carriers and otherwise mostly healthy. CFTR is involved in the production of sweat, digestive fluids, and mucus. When the CFTR is not functional, secretions which are usually thin instead become thick. The condition is diagnosed by a sweat test and genetic testing. Screening of infants at bi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Batten Disease
Batten disease is a fatal disease of the nervous system that typically begins in childhood. Onset of symptoms is usually between 5 and 10 years of age. Often, it is autosomal recessive. It is the common name for a group of disorders called the neuronal ceroid lipofuscinoses (NCLs). Although Batten disease is usually regarded as the juvenile form of NCL (or "type 3"), some physicians use the term Batten disease to describe all forms of NCL. Historically, the NCLs were classified by age of disease onset as infantile NCL (INCL), late infantile NCL (LINCL), juvenile NCL (JNCL) or adult NCL (ANCL). At least 20 genes have been identified in association with Batten disease, but juvenile NCL, the most prevalent form of Batten disease, has been linked to mutations in the ''CLN3'' gene. It was first described in 1903. Signs and symptoms Early signs and symptoms of the disorder usually appear around ages 2–10, with gradual onset of vision problems or seizures. Early signs may be subtle p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bedwetting
Nocturnal enuresis, also informally called bedwetting, is involuntary urination while asleep after the age at which bladder control usually begins. Bedwetting in children and adults can result in emotional stress. Complications can include urinary tract infections. Most bedwetting is a developmental delay—not an emotional problem or physical illness. Only a small percentage (5 to 10%) of bedwetting cases have a specific medical cause. Bedwetting is commonly associated with a family history of the condition. Nocturnal enuresis is considered ''primary'' when a child has not yet had a prolonged period of being dry. ''Secondary'' nocturnal enuresis is when a child or adult begins wetting again after having stayed dry. Treatments range from behavioral therapy, such as bedwetting alarms, to medication, such as hormone replacement, and even surgery such as urethral dilatation. Since most bedwetting is simply a developmental delay, most treatment plans aim to protect or improve sel ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Academic Journal
An academic journal or scholarly journal is a periodical publication in which scholarship relating to a particular academic discipline is published. Academic journals serve as permanent and transparent forums for the presentation, scrutiny, and discussion of research. They nearly-universally require peer-review or other scrutiny from contemporaries competent and established in their respective fields. Content typically takes the form of articles presenting original research, review articles, or book reviews. The purpose of an academic journal, according to Henry Oldenburg (the first editor of ''Philosophical Transactions of the Royal Society''), is to give researchers a venue to "impart their knowledge to one another, and contribute what they can to the Grand design of improving natural knowledge, and perfecting all Philosophical Arts, and Sciences." The term ''academic journal'' applies to scholarly publications in all fields; this article discusses the aspects common to all ac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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