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Latest Genetic disorders Stories

2012-05-10 22:25:22

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.

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.

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.

2012-05-09 14:47:53

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.

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.

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.

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.


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
swell-mobsman
  • A member of the swell-mob; a genteelly clad pickpocket. Sometimes mobsman.
Use of the word 'swell-mobsman' dates at least to the early 1800s.