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Protein inhibitor points to potential medical treatments for skull and skin...

Researchers at Mount Sinai School of Medicine in New York have found new clues in the pathogenesis of skull and skin birth defects associated with a rare genetic disorder, Beare-Stevenson cutis gyrata...

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Researchers solve mystery surrounding the death of two sisters nearly 50...

Researchers at Mount Sinai School of Medicine have identified the genetic cause of a rare and fatal bone disease by studying frozen skin cells that were taken from a child with the condition almost...

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Ten years on, still much to be learned from human genome map

(HealthDay)—As scientists mark the 10th anniversary Sunday of the completion of the Human Genome Project, they will note how that watershed effort has led to the discovery of the genetic underpinnings...

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Researchers identify first drug targets in childhood genetic tumor disorder

Two mutations central to the development of infantile myofibromatosis (IM)—a disorder characterized by multiple tumors involving the skin, bone, and soft tissue—may provide new therapeutic targets,...

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Genetic editing shows promise in Duchenne muscular dystrophy

Using a novel genetic 'editing' technique, Duke University biomedical engineers have been able to repair a defect responsible for one of the most common inherited disorders, Duchenne muscular...

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Gut bacteria play key role in vaccination, study finds

The bacteria that live in the human gut may play an important role in immune response to vaccines and infection by wild-type enteric organisms, according to two recent studies resulting from a...

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Bacterial DNA may integrate into human genome more readily in tumor tissue

Bacterial DNA may integrate into the human genome more readily in tumors than in normal human tissue, according to a new study from the University of Maryland School of Medicine's Institute for Genome...

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Higher genetic risk tied to lifetime asthma suffering

Children with more genetic risks for asthma are not only more likely to develop the condition at a young age, but they are also more likely to continue to suffer with asthma into adulthood. The finding...

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Biomarker predicts heart attack risk based on response to aspirin therapy

Aspirin has been widely used for more than 50 years as a common, inexpensive blood thinner for patients with heart disease and stroke, but doctors have little understanding of how it works and why some...

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Research shows gut microbe populations stable over years, probably decades

(Medical Xpress)—The importance of the bacteria that live within our digestive tracts is just beginning to be fully realized, and while it has long been known that they assist in digestion and...

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Researchers find that proteins involved in immunity potentially cause cancer

A set of proteins involved in the body's natural defenses produces a large number of mutations in human DNA, according to a study led by researchers at the National Institutes of Health. The findings...

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Researchers explore new treatments for a leading genetic cause of infant deaths

Researchers at Iowa State University have identified an RNA structure in humans that could lead to a new treatment for spinal muscular atrophy, the leading genetic cause of death in babies and young...

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Study identifies therapy that may curb kidney deterioration in patients with...

A team led by researchers at the National Institutes of Health has overcome a major biological hurdle in an effort to find improved treatments for patients with a rare disease called methylmalonic...

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Human cells respond in healthy, unhealthy ways to different kinds of happiness

Human bodies recognize at the molecular level that not all happiness is created equal, responding in ways that can help or hinder physical health, according to new research led by Barbara L....

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Researchers publish study on genome of aggressive cervical cancer that killed...

A team from the University of Washington has unveiled a comprehensive portrait of the genome of the world's first immortal cell line, known as HeLa. The cell line was derived in 1951 from an aggressive...

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New characterization of human genome mutability catalyzes biomedical research

As biomedical researchers continue to make progress toward the realization of personalized genomic medicine, their focus is increasingly tuned to highly mutable regions of the human genome that...

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Whole DNA sequencing reveals mutations, new gene for blinding disease

Retinitis pigmentosa (RP) is a genetic disease that causes progressive loss of vision and is caused by mutations in more than 50 genes. Conventional methods for identification of both RP mutations and...

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Scientists characterize effects of transplanted fecal microbiota

Scientists at the Institute for Genome Sciences at the University of Maryland School of Medicine and physicians at Sinai Hospital, Baltimore, MD, have found that restoring the normal, helpful bacteria...

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Dawn of the genome era

The Human Genome Project concluded in 2003, but many of its benefits are only now being realized, according to Alan Guttmacher, director of the National Institutes of Health's Eunice Kennedy Shriver...

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New understanding of chlamydial disease: Novel simultaneous RNA-Seq analysis...

Investigators at the Institute for Genome Sciences at the University of Maryland School of Medicine have developed a new technique that can track the activity of a disease-causing microbe and the host...

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