Science news articles about 'rare genetic condition'

... prone to broken bones, such as those with osteoporosis and the rare genetic condition known as brittle bone disease," said Dr. Anna Spagnoli, associate professor ...

... , according to a National Institutes of Health study of a rare genetic condition. Brain derived neurotrophic factor ... children and adults with WAGR syndrome, a rare genetic condition. The researchers found that some of the people with this syndrome lack ...

... smoke. Research has shown that certain rare genetic conditions are associated with an increased risk of pancreatic cancer, including familial breast-ovarian ...

... , 44, has neurofibromatosis type 2 - a rare genetic condition that causes tumours to grow on nerves in the brain or spinal cord, but most commonly on the auditory ...

... have discovered a new autoinflammatory syndrome, a rare genetic condition that affects children around the time of birth. The findings appear in the current issue ...

... that atlastin has been linked with," Daga said. HSP is a rare genetic condition that affects fewer than one million people worldwide. It's marked by a partial paralysis of the lower ...

... Genetics, scientists in Singapore and Germany report that mutations in the PYCR1 gene cause the rare genetic condition that results in premature skin aging ...

Scientists in Singapore and Germany report that mutations in the PYCR1 gene cause the rare genetic condition that results in premature skin aging and that is known as "wrinkly skin syndrome."

... Institutes of Health researcher has found that carriers of a rare, genetic condition called Gaucher disease face a risk of developing Parkinson's disease more than five ...

... studied two patients affected by a rare genetic condition which has led to the formation of lesions to the amygdala. These lesions prevent the patients from perceiving, recognising ...

... of cardiovascular disease in children with homocystinuria—a rare genetic condition causing extreme elevations in homocysteine levels—led researchers to hypothesize that moderate ...

... ." The excitement among cardiologists concerns a rare genetic condition – arrhythmogenic right ventricular cardiomyopathy (ARVC). "Newfoundlanders likely have the highest incidence ...

... . "Basically you're telling families of a newborn, 'Congratulations, but your child may have a rare genetic condition. We just don't know, and we don't know when we'll know ...

... -to-life" legal dispute. CMS is a rare genetic condition affecting the way signals travel between the brain and muscles which can cause paralysis and in some cases ...

... or more of an impact on health than a person's genetic background. "Understanding rare genetic conditions like MGS ... for each particular disorder, in sum all patients with genetic conditions consume substantial amounts of health ...