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Tag: "congenital" at biology news

'Lucky 13' as new gene discovery offers further hope for childhood blindness

...nding, the thirteenth gene to be linked to Leber’s 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 ...

First clinical trial of gene therapy for childhood blindness

...s and children who have a condition called Leber’s congenital amaurosis (LCA), which is a type of inherited retinal degeneration. This disease causes progressive deterioration in vision, due to an abnormality in a particular gene called RPE65. This defect prevents normal function of the retina, the light-sensit...

Intelligent materials to regenerate bone tissue

... particularly serious damage, such as those due to congenital deficiencies, degenerative illnesses, cancerous disorders and other damage caused by accidents. The implants required for this type of solutions are more complex and sophisticated than the small implants known to date. . The Nanobiocom project aim...

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...

Study to explore using magnets to correct 'sunken chest'

... magnets can correct sunken chest, the most common congenital chest deformity, in the same way that orthodontic braces gradually realign teeth. Sunken chest, which is known medically as pectus excavatum, is a deformity of the cartilage that connects the ribs to the breastbone. The deformed cartilage pulls the ...

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 ...

Experimental vaccine given during pregnancy reduces stillbirths from common virus

... said that 10 percent to 15 percent of babies with congenital CMV have a long-term disability such as mental retardation, cerebral palsy, and hearing loss. The infection could potentially cause other developmental disabilities such as autism or attention deficit disorder. The virus can also damage the placent...

Study uncovers mutation responsible for Noonan Syndrome

...n syndrome is the most common single gene cause of congenital heart disease," explains co-senior author Benjamin Neel, MD, PhD, Director of the Division of Cancer Biology at BIDMC and professor of medicine at Harvard Medical School (HMS). "Although previous work had identified mutations in the PTPN11 gene a...

A valuable fly for research into disease

...hmias and cardiac failure: the Drosophila model of congenital heart disease" will highlight the latest results in this field. ...

Artificial cornea offers better results for infants, some blind patients

... over that window due to conditions like glaucoma, congenital anomalies, or previous cornea surgeries. In Las...ere eye infections, severely misshapen corneas, or congenital causes like glaucoma that have damaged the cornea. Aquavella said the advent of a trouble-free artif...

Pourquié lab identifies genes involved in formation of vertebral precursors

...or can cause crippling diseases in humans, such as congenital scoliosis," said Dr. Dequeant. "Our work identified many novel genes associated to the oscillator whose mutation could lead to such disease." ...

Replacing insulin is top-ranked breakthrough foreseen for health in developing world

...or regenerate cells, tissues or organs impaired by congenital defects, disease, trauma and other causes. It moves beyond traditional transplant and replacement therapies to include the use of stem cells, soluble molecules, genetic engineering, tissue engineering, and advanced cell therapy. There is increasing...

Cellular traffic backups implicated in skeletal malformations

...SD is a rare syndrome, there are hundreds of human congenital dysmorphologies of the skeleton, some of which might involve defects in this protein trafficking pathway. Knapik's model may provide insights into these disorders. "No craniofacial or skeletal deformities ?one of the most prominent human syndrome...

Getting to the heart of the heart

... organ to develop, and the one most susceptible to congenital defects. They also bring researchers a step closer to being able to regenerate tissues to repair congenital heart defects in children and damage caused by heart attacks in adults. The two laboratories are...

Key gene controlling eye lens development identified

...gning both preventive and treatment strategies for congenital diseases." The St. Jude team further showed that the proteins coded for by Six3 are present in the PLE before those coded by Pax6. This was evidence that production of Pax6 proteins in that region of the head starts after Six3 proteins are made, ...

Scientists solve 30-year-old mystery of mutant mouse's kidney woes

... kidney was blocked, and the condition was renamed congenital progressive hydronephrosis. With assistance from the mouse genome sequence and Li Ding, Ph.D., a research instructor at the Genome Sequencing Center at Washington University, Chen and his colleagues showed that the protein mutated in the mice is aq...

Speeding the search for elusive chromosomal errors

...ew research may lead to more accurate diagnosis of congenital diseases, including puzzling disorders that lead t...tion. "For years, many children who have multiple congenital problems, such as developmental delays, heart defects and facial abnormalities, have gone undiagnose...

Heal thyself: Systems biology model reveals how cells avoid becoming cancerous

...o coping with environmental toxins and a number of congenital diseases," said Ideker, the senior author of the p...We'd like to understand what goes wrong in certain congenital diseases involving DNA repair, and we'd also like to understand how the model plays a role in variou...

Study finds that a woman's chances of having twins can be modified by diet

...prone to complications such as premature delivery, congenital defects and pregnancy-induced hypertension in the mother than singleton pregnancies, the findings of this study suggest that women contemplating pregnancy might consider substituting meat and dairy products with other protein sources, especially in c...

UF scientists restore sight to chickens with blinding disease

...dels a genetic disease in humans that causes Leber congenital amaurosis type 1, or LCA1. About 2,000 people in the United States are blind because they have a disease that falls in the LCA family. "Enabling chickens that can't see to peck and eat after treatment is stunning," said Dr. Jean Bennett, a professor...

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