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Latest Genetic disorders Stories

2012-05-29 11:54:12

Use of transplanted induced pluripotent stem cells could lead to new treatments for HD Researchers from South Korea, Sweden, and the United States have collaborated on a project to restore neuron function to parts of the brain damaged by Huntington´s disease (HD) by successfully transplanting HD-induced pluripotent stem cells into animal models. Induced pluripotent stem cells (iPSCs) can be genetically engineered from human somatic cells such as skin, and can be used to model...

2012-05-28 19:18:26

Discovery of mutation ends UCLA doctor's 20-year quest The Caterpillar got down off the mushroom and crawled away in the grass, remarking as it went, 'One side will make you grow taller, and the other side will make you grow shorter.' -Alice's Adventures in Wonderland, by Lewis Carroll UCLA geneticists have identified the mutation responsible for IMAGe syndrome, a rare disorder that stunts infants' growth. The twist? The mutation occurs on the same gene that causes Beckwith-Wiedemann...

2012-05-28 19:14:33

A gene previously linked to too much growth in patients has now also been linked to growth restriction. Different forms of the gene can lead to very different conditions, according to research published today in the journal Nature Genetics. IMAGe* syndrome is a rare developmental disorder which can affect fetal growth, resulting in smaller than average body and organ size. Without treatment, the disorder can have potentially life-threatening consequences from adrenal gland failure. The...

2012-05-27 23:00:02

"Muscle atrophy is a major problem with arthritis is now being treated at he Center for regenerative Medicine," according to A.J. Farshchian MD from the Center for Regenerative Medicine. Miami, FL (PRWEB) May 26, 2012 Muscle atrophy a major problem with arthritis, could be treated with regenerative medicine, according to A.J. Farshchian MD from the Center for Regenerative Medicine. Muscle atrophy also known as Muscle wasting Is common in arthritis and is usually due to loss of muscle tissue...

2012-05-24 21:23:11

Severe combined immunodeficiency is defect in the immune system that results in a loss of the adaptive immune cells known as B cells and T cells. Mutations in several different genes can lead to the development of severe combined immunodeficiency, including mutation of the adenosine deaminase (ADA) gene. Traditional treatment options, such as enzyme replacement therapy, are of limited efficacy, but bone marrow transplant from a compatible donor leads to a better response. A recent clinical...

2012-05-23 18:57:57

Mutated and intact proteins of the cytoskeleton form abnormal aggregates Malformed desmin proteins aggregate with intact proteins of the same kind, thereby triggering skeletal and cardiac muscle diseases, the desminopathies. This was discovered by researchers from the RUB Heart and Diabetes Center NRW in Bad Oeynhausen led by PD Dr. Hendrik Milting in an interdisciplinary research project with colleagues from the universities in Karlsruhe, Würzburg and Bielefeld. They report...


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
humgruffin
  • A terrible or repulsive person.
Regarding the etymology of 'humgruffin,' the OED says (rather unhelpfully) that it's a 'made-up word.' We might guess that 'hum' comes from 'humbug' or possibly 'hum' meaning 'a disagreeable smell,' while 'gruffin' could be a combination of 'gruff' and 'griffin.'