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Latest Genetic disorders Stories

2012-05-23 17:12:50

Children born with cleft lip, cleft palate and other craniofacial disorders face numerous medical challenges beyond appearance. Patients can face serious airway, feeding, speech and hearing problems, as well as social and psychological challenges, Laura Swibel Rosenthal, MD, of Loyola University Medical Center and colleagues write in the June 2012 issue of Otolaryngologic Clinics of North America. "The management of patients with craniofacial syndromes is complex," Rosenthal and...

2012-05-15 22:31:43

Researchers at Mount Sinai School of Medicine in New York have found new clues in the pathogenesis of skull and skin birth defects associated with a rare genetic disorder, Beare-Stevenson cutis gyrata syndrome (BSS). Using a mouse model, investigators found that by inhibiting the protein p38, previously associated with cancer and certain autoimmune conditions, they were able to interrupt development of specific birth defects associated with it: craniosynostosis, or the premature fusion of...

2012-05-10 22:25:22

History, science and discovery come together to help family members C5ORF42 was identified as the gene that causes Joubert Syndrome in a number of families in the Lower St. Lawrence region of Quebec where the causal gene had remained unknown since the initial description of the syndrome in 1969. This is what a study in the April issue of The American Journal of Human Genetics reveals. The study was conducted by researchers from the Sainte-Justine University Hospital Research Center and the...


Latest Genetic disorders Reference Libraries

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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
Cthulhu
  • A gigantic fictional humanoid alien god being described with a head resembling an octopus and dragon wings and claws, around whom an insane cult developed.
  • Pertaining to the mythos of Cthulhu and additional otherworldly beings created by H. P. Lovecraft or inspired by his writings and imitators.
This word was invented in 1926 by H.P. Lovecraft for his short story, 'The Call of Cthulhu.' 'Cthulhu' may be based on the word 'chthonic,' which in Greek mythology refers to the underworld.
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