(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
An early-stage clinical trial has found that, compared to a placebo, a novel medication significantly reduces potentially life-threatening episodes of swelling of the airway as well as the hands, feet, and abdomen of patients ...
Feb 22, 2017
1
9
Mitochondrial dysfunction is the root cause of many diseases that are bewildering in their variety and complexity. They include rare genetic disorders in children, some forms of heart disease, and most likely many cases of ...
Jan 26, 2017
0
75
The Food and Drug Administration on Friday approved the first treatment for children and adults with spinal muscular atrophy, a rare genetic disorder marked by progressive muscle weakness that's the most common genetic cause ...
Dec 23, 2016
0
0
In individuals with a rare genetic disorder that affects blood vessels, arteries and veins develop abnormal connections, causing bleeding in the skin, nose, and other organs. In most cases, the condition—hereditary hemorraghic ...
Nov 30, 2016
0
1
Researchers in Japan have improved a potential treatment for a rare genetic disease, decreasing its negative toxic effects by threading it onto a dumb-bell-shaped chain and holding it in place until it reaches its target.
Nov 3, 2016
0
1
The first patient was a mystery. Arriving at Duke six years ago at the age of three, the youngster had mild developmental delays and physical characteristics that included a large body and large head circumference. A genetic ...
Sep 29, 2016
0
42
A four-year-old Bangladeshi boy suffering from a mysterious illness that makes him look like an old man has been admitted to hospital for tests, doctors and his family said.
Aug 9, 2016
0
30
People with intellectual disabilities are more susceptible to exploitation and abuse, and the rise of the Internet only increases their vulnerability.
May 19, 2016
0
27
What started as a search for answers for patients suffering from a rare genetic condition called neonatal progeroid syndrome (NPS) that keeps the body from accumulating fat, among other symptoms, has now turned into a discovery ...
Apr 14, 2016
0
5
