Quantcast

Latest Genetic disorders Stories

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...

2012-05-10 13:39:49

Scientists have confirmed that mutations of a gene are responsible for some cases of a rare, inherited disease that causes progressive muscle degeneration and weakness: spinal muscular atrophy with lower extremity predominance, also known as SMA-LED. "Typical spinal muscular atrophies begin in infancy or early childhood and are fatal, involving all motor neurons, but SMA-LED predominantly affects nerve cells controlling muscles of the legs. It is not fatal and the prognosis is good,...

2012-05-09 19:39:51

The deletion of part of a gene that plays a role in the synthesis of carnitine — an amino acid derivative that helps the body use fat for energy — may play a role in milder forms of autism, said a group of researchers led by those at Baylor College of Medicine and Texas Children's Hospital. "This is a novel inborn error of metabolism," said Dr. Arthur Beaudet, chair of molecular and human genetics at BCM and a physician at Texas Children's Hospital, and the senior author of the...

2012-05-09 14:47:53

This family comprises a cluster of six genes that may be altered in neurological conditions, such as Parkinson´s and Charcot-Marie-Tooth disease A team headed by Eduardo Soriano at the Institute for Research in Biomedicine (IRB Barcelona) has published a study in Nature Communications describing a new family of six genes whose function regulates the movement and position of mitochondria in neurons. Many neurological conditions, including Parkinson´s and various types of...

2012-05-08 15:27:53

Gene therapy strategies to prevent and treat inherited diseases of the retina that can cause blindness have progressed rapidly. Positive results in animal models of human retinal disease continue to emerge, as reported in several articles published in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The articles are available free on the Human Gene Therapy website. After 20 years of promising research, testing in animal models, and initial clinical trial...

2012-05-08 09:20:27

Mayo Clinic and University of Oregon researchers have confirmed that a genetic factor called a repeating trinucleotide is a strong predictor of an individual's risk of developing the eye condition Fuchs' dystrophy. The findings were being presented today at the annual conference of the Association for Research in Vision and Ophthalmology in Orlando, Fla. Fuchs' dystrophy is an eye condition that occurs when the cells at the back of the cornea deteriorate, causing fluid buildup resulting in...

2012-05-07 20:22:05

The deletion of part of a gene that plays a role in the synthesis of carnitine — an amino acid derivative that helps the body use fat for energy — may play a role in milder forms of autism, said a group of researchers led by those at Baylor College of Medicine (http://www.bcm.edu) and Texas Children's Hospital (http://www.texaschildrens.org). "This is a novel inborn error of metabolism," said Dr. Arthur Beaudet (http://www.bcm.edu/genetics/index.cfm?pmid=10579), chair of...


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...

More Articles (1 articles) »
Word of the Day
bellycheer
  • Good cheer; viands.
  • To revel; to feast.
The word 'bellycheer' may come from 'belle cheer', "good cheer".
Related