Latest Genetic disorders Stories
Using a human induced pluripotent stem cell (iPSC) from a patient suffering from Huntington’s disease, researchers at the Buck Institute for Research on Aging have corrected the genetic mutation that is responsible for the disease.
Researchers at the Buck Institute for Research on Aging have corrected the genetic mutation responsible for Huntington's Disease (HD) using a human induced pluripotent stem cell (iPSC) that came from a patient suffering from the incurable, inherited neurodegenerative disorder.
Over 3,000 Americans are affected by muscular dystrophy, a genetic disorder primarily affecting skeletal muscle that results in greatly impaired mobility and, in sever cases, respiratory and cardiac dysfunction.
Stem cells from patients with a rare form of muscular dystrophy have been successfully transplanted into mice affected by the same form of dystrophy.
Genetic researchers have made an important step towards resolving the mystery of the causes of intrauterine fetal demise (IUFD), or stillbirth, where a baby dies in the womb after the 14th week of gestation.
The commonly-used epilepsy drug, valproic acid (VPA), can have a highly beneficial effect on some babies born with spinal muscular atrophy (SMA), the number one genetic killer during early infancy.
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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