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Dor Yeshorim
Dor Yeshorim ( he, דור ישרים) also called Committee for Prevention of Jewish Genetic Diseases, is a nonprofit organization that offers genetic screening to members of the Jewish community worldwide. Its objective is to minimize, and eventually eliminate, the incidence of genetic disorders common to Jewish people, such as Tay–Sachs disease. Dor Yeshorim is based in Brooklyn, New York, but has offices in Israel and various other countries. History In both the Ashkenazi and Sephardi Jewish communities, there is an increased rate of a number of genetic disorders such as Tay–Sachs disease, an autosomal recessive disorder that goes unnoticed in carriers, but is fatal within the first few years of life in almost all homozygotes. (The exception is the rare adult-onset Tay–Sachs, which is normally not fatal but is incapacitating.) Orthodox Judaism generally opposes selective abortion. Although preimplantation genetic diagnosis (PGD) is often approved by Halakha, it is a d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dor Yeshorim
Dor Yeshorim ( he, דור ישרים) also called Committee for Prevention of Jewish Genetic Diseases, is a nonprofit organization that offers genetic screening to members of the Jewish community worldwide. Its objective is to minimize, and eventually eliminate, the incidence of genetic disorders common to Jewish people, such as Tay–Sachs disease. Dor Yeshorim is based in Brooklyn, New York, but has offices in Israel and various other countries. History In both the Ashkenazi and Sephardi Jewish communities, there is an increased rate of a number of genetic disorders such as Tay–Sachs disease, an autosomal recessive disorder that goes unnoticed in carriers, but is fatal within the first few years of life in almost all homozygotes. (The exception is the rare adult-onset Tay–Sachs, which is normally not fatal but is incapacitating.) Orthodox Judaism generally opposes selective abortion. Although preimplantation genetic diagnosis (PGD) is often approved by Halakha, it is a d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Halakha
''Halakha'' (; he, הֲלָכָה, ), also transliterated as ''halacha'', ''halakhah'', and ''halocho'' ( ), is the collective body of Jewish religious laws which is derived from the written and Oral Torah. Halakha is based on biblical commandments ('' mitzvot''), subsequent Talmudic and rabbinic laws, and the customs and traditions which were compiled in the many books such as the ''Shulchan Aruch''. ''Halakha'' is often translated as "Jewish law", although a more literal translation of it might be "the way to behave" or "the way of walking". The word is derived from the root which means "to behave" (also "to go" or "to walk"). ''Halakha'' not only guides religious practices and beliefs, it also guides numerous aspects of day-to-day life. Historically, in the Jewish diaspora, ''halakha'' served many Jewish communities as an enforceable avenue of law – both civil and religious, since no differentiation of them exists in classical Judaism. Since the Jewish Enlightenment (''Hask ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Niemann–Pick Disease
Niemann–Pick disease is a group of severe inherited metabolic disorders, in which sphingomyelin accumulates in lysosomes in cells (the lysosomes normally degrade material that comes from out of cells). These disorders involve the dysfunctional metabolism of sphingolipids, which are fats found in cell membranes. They can be considered as a kind of sphingolipidosis, which is included in the larger family of lysosomal storage diseases. Signs and symptoms Symptoms are related to the organs in which sphingomyelin accumulates. Enlargement of the liver and spleen (hepatosplenomegaly) may cause reduced appetite, abdominal distension, and pain. Enlargement of the spleen (splenomegaly) may also cause low levels of platelets in the blood (thrombocytopenia). Accumulation of sphingomyelin in the central nervous system (including the cerebellum) results in unsteady gait (ataxia), slurring of speech (dysarthria), and difficulty swallowing (dysphagia). Basal ganglia dysfunction causes abnormal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bloom Syndrome
Bloom syndrome (often abbreviated as BS in literature) is a rare autosomal recessive genetic disorder characterized by short stature, predisposition to the development of cancer, and genomic instability. BS is caused by mutations in the ''BLM'' gene which is a member of the RecQ DNA helicase family. Mutations in other members of this family, namely WRN and RECQL4, are associated with the clinical entities Werner syndrome and Rothmund–Thomson syndrome, respectively. More broadly, Bloom syndrome is a member of a class of clinical entities that are characterized by chromosomal instability, genomic instability, or both and by cancer predisposition. Cells from a person with Bloom syndrome exhibit a striking genomic instability that includes excessive crossovers between homologous chromosomes and sister chromatid exchanges (SCEs). The condition was discovered and first described by New York dermatologist Dr. David Bloom in 1954. Bloom syndrome has also appeared in the older literature ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fanconi Anemia
Fanconi anaemia (FA) is a rare genetic disease resulting in impaired response to DNA damage. Although it is a very rare disorder, study of this and other bone marrow failure syndromes has improved scientific understanding of the mechanisms of normal bone marrow function and development of cancer. Among those affected, the majority develop cancer, most often acute myelogenous leukemia (AML), and 90% develop aplastic anemia (the inability to produce blood cells) by age 40. About 60–75% have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% have some form of endocrine problem, with varying degrees of severity. FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair via homologous recombination. Treatment with androgens and hematopoietic (blood cell) growth factors can help bone marrow failure temporarily, but the long-term treatment is bone marrow ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glycogen Storage Disease
A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by an enzyme deficiency affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells. GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism (genetically defective enzymes) involved in these processes. In livestock, acquired GSD is caused by intoxication with the alkaloid castanospermine. Types Remarks: * Some GSDs have different forms, e.g. infantile, juvenile, adult (late-onset). * Some GSDs have different subtypes, e.g. GSD1a / GSD1b, GSD9A1 / GSD9A2 / GSD9B / GSD9C / GSD9D. * GSD type 0: Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs as type 0 because it is another defect of glycogen storage and can cause similar problems. * GSD type VIII (GSD 8): In the past it was considered a distin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Canavan Disease
Canavan disease, or Canavan-Van Bogaert-Bertrand disease, is a rare and fatal autosomal recessive degenerative disease that causes progressive damage to nerve cells and loss of white matter in the brain. It is one of the most common degenerative cerebral diseases of infancy. It is caused by a deficiency of the enzyme aminoacylase 2, and is one of a group of genetic diseases referred to as leukodystrophies. It is characterized by degeneration of myelin in the phospholipid layer insulating the axon of a neuron and is associated with a gene located on human chromosome 17. Symptoms and signs Symptoms of the most common (and most serious) form of Canavan disease typically appear in early infancy usually between the first three to six months of age. Canavan disease then progresses rapidly from that stage, with typical cases involving intellectual disability, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., initial floppiness - hypotonia - that ... [...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] |
Familial Dysautonomia
Familial dysautonomia (FD), also known as Riley-Day Syndrome, is a rare, progressive, recessive genetic disorder of the autonomic nervous system that affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system. FD results in variable symptoms, including insensitivity to pain, inability to produce tears, poor growth and labile blood pressure (episodic hypertension and postural hypotension). People with FD have frequent vomiting crises, pneumonia, problems with speech and movement, difficulty swallowing, inappropriate perception of heat, pain and taste as well as unstable blood pressure and gastrointestinal dysmotility. Originally reported by Drs. Conrad Milton Riley and Richard Lawrence Day in 1949, FD is one example of a group of disorders known as hereditary sensory and autonomic neuropathies ( HSAN). All HSAN are characterized by widespread sensory dysfunction and variable autonomic dysfunction cau ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dor Yesharim Punnet
DOR, Dor, or DoR may refer to: Computer games and characters * '' Advance Wars: Days of Ruin'', a turn-based tactics video game for the Nintendo DS * Dor, a magician in the fictional Xanth universe; see Magicians of Xanth * ''WWE Day of Reckoning'', a Nintendo Gamecube video game Geography * Dör, a village in Hungary * Dor, Iran, a village in Isfahan Province, Iran * Dor, Israel, a moshav in northern Israel * Ein Dor, a kibbutz in northern Israel * Tel Dor, an archaeological site in Israel on the site of Dor or Dora, an ancient royal city of the Canaanites * Dori Airport, an airport in Burkina Faso with the IATA code DOR * Dorset, county in England, Chapman code People Given name * Dor Bahadur Bista (born ca. 1924–1926), Nepalese anthropologist, social scientist and activist * Dor Daniel (born 1982), Israeli singer songwriter * Dor Elo (born 1993), Israeli football player * D'or Fischer (born 1981), American-Israeli basketball player * Dor Guez (born ca. 1980), Israeli ar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dominant Gene
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Recessive Gene
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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