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Latest Genetic disorders Stories

2012-07-11 05:33:37

A new single-gene cause of chronic kidney disease has been discovered that implicates a disease mechanism not previously believed to be related to the disease, according to new research from the University of Michigan. The research was published July 8 in the journal Nature Genetics. “In developed countries, the frequency of chronic kidney disease is continually increasing for unknown reasons. The disease is a major health burden,” says Friedhelm Hildebrandt, M.D., the...

2012-07-09 16:28:35

Systemic complications include life-threatening thoracic aortic disease Research teams from The University of Texas Health Science Center at Houston (UTHealth) and Paris, France have discovered a gene defect linked to a cluster of systemic complications, including life-threatening thoracic aortic disease and intracranial aneurysms. The new syndrome is similar, but distinct from known syndromes such as Marfan and Loeys-Dietz syndrome. Genome-wide analysis of two unrelated families, one...

Susceptibility Genes Can Be Revealed From Exome Sequencing Of Health Condition Extremes
2012-07-09 10:55:33

DNA from cystic fibrosis patients with and without chronic infections points to unsuspected mutation Comparing the DNA from patients at the best and worst extremes of a health condition can reveal genes for resistance and susceptibility. This approach discovered rare variations in the DCTN4 gene among cystic fibrosis patients most prone to early, chronic airway infections. The DCTN4 gene codes for dynactin 4. This protein is a component of a molecular motor that moves trouble-making...

2012-07-09 10:54:16

The challenge of treating patients with genetic disorders in which a single mutated gene is simply too large to be replaced using traditional gene therapy techniques may soon be a thing of the past. A Nationwide Children's Hospital study describes a new gene therapy approach capable of delivering full-length versions of large genes and improving skeletal muscle function. The strategy may hold new hope for treating dysferlinopathies and other muscular dystrophies. A group of untreatable...


Latest Genetic disorders Reference Libraries

44_b4e6022f2dde476f8bd4cab961972a2d
2007-12-13 19:44:51

The Munchkin is a fairly new breed of cat with a lot of controversy surrounding it. The breed is created by a mutation that causes achondroplasia, or hypochondroplasia, which results in the cats having abnormally short legs. The breed originated when a pregnant, short-legged black cat was discovered in Louisiana in 1983. One of her kittens, a tomcat, became the father of the breeding program for Munchkins. Several cat registries refuse to recognize the breed due to the controversy that...

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Word of the Day
omphalos
  • The navel or umbilicus.
  • In Greek archaeology: A central boss, as on a shield, a bowl, etc.
  • A sacred stone in the temple of Apollo at Delphi, believed by the Greeks to mark the 'navel' or exact center-point of the earth.
'Omphalos' comes from the ancient Greek.
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