Latest Spinal muscular atrophy Stories

2012-10-25 04:02:18

Hal Martin´s Watch & Jewelry Co. helps Sophia´s Cure Foundation find a cure for SMA by donating a portion of proceeds from luxury watch and jewelry sales. Houston, Texas (PRWEB) October 24, 2012 On Monday October 29th, 6:30pm — 8:30pm, Hal Martin´s Watch & Jewelry store will be hosting a public Trunk Show, along with Tal Barkel of Tal´s Designs, Inc., who designs beautiful one of a kind jewelry. A portion of the evenings proceeds will be donated to...

2012-08-15 11:57:20

Targeted 'negative ASOs' cause missplicing and pathogenesis, providing unique window on disease progression A team led by scientists at Cold Spring Harbor Laboratory (CSHL) has developed a new way of making animal models for a broad class of human genetic diseases — those with pathology caused by errors in the splicing of RNA messages copied from genes. To date, about 6,000 such RNA "editing" errors have been found in various human illnesses, ranging from neurodegenerative disorders...

2012-07-20 23:03:23

A bill to authorize the NIH to support the creation of up to 20 pediatric research consortia focused on diseases such as spinal muscular atrophy (SMA) was introduced in the U.S. House of Representatives. Alexandria, VA (PRWEB) July 20, 2012 A bill to authorize the National Institutes of Health (NIH) to support the creation of up to 20 pediatric research consortia focused on diseases such as spinal muscular atrophy (SMA) was introduced yesterday in the U.S. House of Representatives. The...

2012-06-25 10:30:13

Researchers find a simple way of avoiding dangerous side effects 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. But in about two-thirds of such cases it is either damaging or simply has no effect. Now, for the first time, researchers have found a way to identify which patients are likely to respond well to VPA prior to starting treatment....

2012-06-20 19:10:00

Regenerative Medicine Institute research sheds new light on cell death in a common, lethal genetic disease in children, suggesting paths for potential treatment Cedars-Sinai's Regenerative Medicine Institute has pioneered research on how motor-neuron cell-death occurs in patients with spinal muscular atrophy, offering an important clue in identifying potential medicines to treat this leading genetic cause of death in infants and toddlers. The study, published in the June 19 online...

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,...

Word of the Day
  • A gigantic fictional humanoid alien god being described with a head resembling an octopus and dragon wings and claws, around whom an insane cult developed.
  • Pertaining to the mythos of Cthulhu and additional otherworldly beings created by H. P. Lovecraft or inspired by his writings and imitators.
This word was invented in 1926 by H.P. Lovecraft for his short story, 'The Call of Cthulhu.' 'Cthulhu' may be based on the word 'chthonic,' which in Greek mythology refers to the underworld.