Spinal muscular atrophy (SMA) is the leading genetic cause of death in children under 2, with no treatment other than supportive care. In the Proceedings of the National Academy of Sciences, researchers at Children's Hospital ...
Jun 6, 2011
0
0
The human airway is a pretty inhospitable place for microbes. There are numerous immune defense mechanisms poised to kill or remove inhaled bacteria before they can cause problems. But cystic fibrosis (CF) disrupts these ...
Jul 4, 2012
0
0
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential ...
May 31, 2023
0
28
While autism clearly runs in some families, few inherited genetic causes have been found. A major reason is that these causes are so varied that it's hard to find enough people with a given mutation to establish a clear pattern. ...
Jan 23, 2013
0
0
Migraines are a pain in the head and in the hip pocket, but newly discovered genetic causes by QUT researchers could lead the way to new preventative drugs and therapies.
Oct 13, 2021
0
14
(HealthDay)—Researchers say they have found the genetic cause of a rare disorder that causes children to be born with deafness, blindness, albinism and fragile bones.
Mar 23, 2017
0
0
One way to tackle a tumor is to take aim at the metabolic reactions that fuel their growth. But a report in the February Cell Metabolism shows that one metabolism-targeted cancer therapy will not fit all. That means that ...
Feb 7, 2012
0
0
Earlier this month, researchers and advocates from 40 countries formed a global alliance to enable the secure sharing of genomic and clinical data, aiming to end the era in which only the people who collected your genetic ...
Jul 3, 2013
0
0
In 1999, Dr. Huda Zoghbi and colleagues at Baylor College of Medicine identified the genetic cause of Rett syndrome (a neurological disorder that begins after birth) – MECP2 mutation. Too little of the MeCP2 protein associated ...
Dec 5, 2012
0
0
Over 28 million Americans are hearing impaired, and 50 percent of these cases can be traced to genetic causes. The condition can be especially challenging for children born hearing impaired because spoken language, reading, ...
Sep 14, 2011
1
0
