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Latest Genetic disorders Stories

2012-05-05 23:00:14

Research Down Syndrome provides an update on its charity racing program and lists upcoming events. Chicago, IL (PRWEB) May 05, 2012 The Research Down Syndrome Foundation´s RDS Runners program shares its upcoming events schedule with racers interested in having their miles support Down syndrome research. The program has participated this year in multiple races across the country, from half marathons in New York City, Washington, DC and Houston to shorter races in the Midwest. The RDS...

2012-05-04 23:02:57

The breakthrough genetic test designed to meet FAA and US Air Force requirements is set for release at the Aerospace Medical Association in May. Albuquerque, NM (PRWEB) May 04, 2012 Genevolve Vision Diagnostics is launching its military grade genetic test for all major forms of congenital color blindness at the Aerospace Medical Association annual event May 13th-15th in Atlanta, Georgia. It is the first totally objective color vision test that can consistently separate colorblind...

2012-05-03 19:52:34

Two Distinct Mutations Cause “Question Mark Ears Syndrome,” Study Finds Researchers at Seattle Children´s Research Institute and their collaborators have discovered a pair of defective genes that cause a rare congenital malformation syndrome that can make it impossible for the child to breathe or eat properly without reparative surgery. In a study led by Michael L. Cunningham, MD, PhD, medical director of the Seattle Children´s Hospital´s Craniofacial Center, a...

2012-05-03 19:23:40

Study also highlights shortcomings of current genetic testing methods to prevent certain genetic disorders Research conducted at the Oregon National Primate Research Center at Oregon Health & Science University helps answer some long-standing questions about how certain disease-causing gene mutations are inherited. The research specifically focused on gene mutations in cell mitochondria that can cause several diseases, including forms of cancer, diabetes, infertility and...

2012-05-03 16:05:03

They have identified new functions of cohesin SA1 that are relevant for cancer and CdLS Cohesin is a ring-shaped protein complex involved in the spatial organization of the genome and in mitotic chromosome structure. Vertebrate somatic cells have two versions of cohesin that contain either SA1 or SA2, but their functional specificity has been largely ignored. Researchers of the Spanish National Cancer Research Centre (CNIO) under the direction of Ana Losada have identified new functions of...

2012-05-03 15:53:42

A research group from Ben-Gurion University of the Negev (BGU) and Soroka University Medical Center led by Prof. Ohad Birk has discovered genetic mutations that lead to intestinal blockages in newborns from two Bedouin tribes in Israel. The new paper published in the American Journal of Human Genetics identifies mutations in gene GUCY2C that abrogates its function. The mutations were identified in two different Negev Bedouin tribes where there were instances of intestinal obstructions in...


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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
vermicular
  • Like a worm in form or movement; vermiform; tortuous or sinuous; also, writhing or wriggling.
  • Like the track or trace of a worm; appearing as if worm-eaten; vermiculate.
  • Marked with fine, close-set, wavy or tortuous lines of color; vermiculated.
  • A form of rusticated masonry which is so wrought as to appear thickly indented with worm-tracks.
This word ultimately comes from the Latin 'vermis,' worm.
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