Tag: "congenital" at biology news
Leicester breakthrough in eye disease
...n cannot keep their eyes still. Nystagmus can be congenital
(occurs at birth or in early childhood) or acquire...ttlob, has shown that drug treatment is helpful in congenital
nystagmus, as well as in the form that develops later. The frequency of nystagmus is unknown. How...
One gene 90 percent responsible for making common parasite dangerous
... serious eye or central nervous system disease, or congenital
defects or death in the fetuses of pregnant women. Historically, scientists have found strains of T. gondii difficult to tell apart, heightening the mystery of occasional serious infections in healthy people. "Clinically it may be helpful to be abl...
Cluster of journals publish findings on dangerous parasite, Toxoplasma gondii
...ation of the brain in AIDS patients and for severe congenital
disease that is passed from mother to baby," White said. MSU led the study that was published in "PloS", White said. MSU made major contributions to the "Nature" and "Science" papers which were collaborations with Stanford University and Washington...
New study challenges 'critical period' in childhood vision development
...o a woman in India who was born blind due to dense congenital
cataracts in both eyes. The woman lived as a blind child for 12 years before she received treatment. Now, twenty years after her surgery, the researchers found that she is able to discern between separate objects, determine depth, localize faces am...
Pourqui Lab clarifies mode of formation of spinal precursors
...ormation will help us to understand the origins of congenital
spine disorders, such as congenital
scoliosis, and will eventually lead to better treatment options." Xuesong Yang and Cornelis J. Wei...
Genetic hearing loss may be reversible without gene therapy
...y law [including Georgia]." In people without congenital
hearing loss, connexin26 and connexin30 work toget...hough scientists knew connexin26 was implicated in congenital
deafness, they did not know precisely why. Working with Emory colleagues and scientists from the Un...
Researchers find the mechanism by which cells resist chemotherapy
...erised by progressive bone-marrow failure, various congenital
malformations and a very high risk of cancer. Furthermore, the proteins of this pathway are largely responsible for the resistance of tumours to many antitumour agents such as cisplatin and other chemotherapeutic agents that kill tumour cells by pr...
Gladstone scientists identify critical gene factor in heart development
...mbers of the heart, which is the most common human congenital
heart defect. They also found that miR-1-2 influences electrical conduction of the heart, which is what regulates the heart beat. Defects in the heart rhythm frequently cause sudden death in humans and are the reason for pacemakers and defibrillator...
How genetic malfunction causes a form of retardation
...of every 2,500 live births. It is characterized by congenital
heart defects, short stature, learning disabilities, and mental retardation. Approximately 50% of NS cases are caused by a genetic mutation in a biochemical switch called SHP-2. SHP-2 is involved in molecular pathways regulating development of brain ...
Smelling for first time results from knowing abnormalities in congenital loss of smell
... biochemical basis of the majority of cases of the congenital
inability to smell any odor, no matter how strong,...mall percentage - 12 percent - of individuals with congenital
smell loss have multiple anatomical abnormalities of the brain and other organs. The vast majority -...
Gladstone's Deepak Srivastava receives E. Mead Johnson Award for achievement in pediatrics
...astava seeks ways to use these pathways to prevent congenital
defects and treat acquired heart disease. They also seek to identify the causes of human cardiovascular disease by applying modern genetic technologies for the study of complex traits. "This is a singular honor for Deepak and very well deserved," s...
UVa researcher studying disease that cripples newborns
...wborns are shocked to learn their child has type 1 congenital
myotonic dystrophy (CDM1), a progressive and crippling genetic disorder. Although doctors know that babies inherit CDM1 from their mother and prenatal tests are available, many children are not diagnosed until they are born. In these instances, mo...
Alcohol use during pregnancy leads to greater risk of extreme preterm delivery
...eptibility to neurobehavioral effects and anatomic congenital
anomalies in pregnancies among older women. "This is an important finding," he said, "because a woman could have been drinking during pregnancy when she was younger and had no effects, but could be more susceptible later." Given that the patient ...
Rapid syphilis testing in Haiti will prevent congenital disease and stillbirths
... than 2,000 cases of stillbirth, neonatal death or congenital
syphilis. "We have shown that by working with th...ng the number of years of healthy life lost due to congenital
syphilis among newborn babies, the number of stillbirths and the number of neonatal deaths. While ra...
Researchers identify fifth gene responsible for Joubert syndrome
... JS. This links JS to other diseases such as Leber congenital
amaurosis, Senior-Loken syndrome and nephronophthisis, the most common genetic cause of kidney failure in children. All these conditions share disruptions in the protein networks of cilia. Further, this study exemplifies the power of international co...
Genetic defect links respiratory disease and congenital heart disease
...respiratory disease may also lead to some types of congenital
heart disease, according to a study from the Unive...al position of the heart and lungs associated with congenital
heart disease. The research team wondered if PCD and heterotaxy were related becauseother types of...
'Lucky 13' as new gene discovery offers further hope for childhood blindness
...inding, the thirteenth gene to be linked to Lebers congenital
amaurosis (LCA), comes at a time of hope for the people born with the disorder. Scientists at Moorfields Eye Hospital, London, recently announced the start of clinical trials for a gene therapy involving injecting genes into the eye of patients with ...
WPI professor to represent American Mathematical Society at exhibition on science funding
...lier had surgery to correct Tetralogy of Fallot, a congenital
condition that leaves the heart unable to pump sufficient oxygenated blood through the body. Tang's model, which takes into consideration blood flow and stress and strain on heart tissue and an implanted patch, appears to provide a better way to eval...
Penn researchers report that gene therapy awakens the brain despite blindness from birth
...mutation causes a blindness in humans called Leber congenital
amaurosis, or LCA. It is the first human eye-retinal disorder slated for gene therapy. Gene therapy, performed by introducing a working copy of RPE65 into the retina, restored eye function in canines. Yet, it was previously unclear if the brain c...
ACMG recognizes progress made in newborn screening
...ng of all newborns for a core panel of genetic and congenital
conditions. It is estimated that currently more than 500,000 babies annually are still not screened for the full panel of debilitating or life-threatening disorders. In many of these diseases, serious complications such as death or mental retardation...
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