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New genetic targets discovered in fight against muscle-wasting disease

Scientists have pinpointed for the first time the genetic cause in some people of an incurable muscle-wasting disease, Emery-Dreifuss muscular dystrophy (EDMD).

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Genetic link to kidney stones identified

A new breakthrough could help kidney stone sufferers get an exact diagnosis and specific treatment after genetic links to the condition were identified.

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Mining for clues: New DNA mapping project to discover the causes of MND...

The Irish arm of a new worldwide project which will dig deep into thousands of DNA profiles in order to discover the genetic causes of Motor Neurone Disease (MND) has been launched in Ireland by...

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Project pinpoints 12 new genetic causes of developmental disorders

The first results to emerge from a nationwide project to study the genetic causes of rare developmental disorders have revealed 12 causative genes that have never been identified before. The...

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Genetic discovery about childhood blindness paves the way for new treatments

Finding genes for retinal degenerations has immediate benefits for people living with blindness and vision loss, their families, and their physicians. Establishing a genetic cause confirms the clinical...

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Major study links two new genetic variants to breast cancer

A worldwide study of the DNA of 100,000 women has discovered two new genetic variants associated with an increased risk of breast cancer.

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Canadians' preferences for receiving incidental findings from genetic testing

Although many people value receiving information about incidental findings identified from genomic sequencing, not everyone wants to know about genetic conditions regardless of potential health...

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Gene leads to malformation of the urinary tract

An interdisciplinary team of researchers under the direction of the University of Bonn Hospital have discovered a gene which is associated with a rare congenital anomaly of the urinary tract called...

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Women born early at greater risk of delivering preemies, study suggests

(HealthDay)—Women who were born prematurely may be more likely to deliver their own babies early, a new study suggests.

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Researchers identify gene mutation that can cause key-hole shape defect in eye

A scientific collaboration, involving the Manchester Centre for Genomic Medicine (MCGM) at Saint Mary's Hospital, UK, and the Telethon Institute of Genetics and Medicine (TIGEM) in Naples, Italy, has...

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Cause of acute liver failure in young children discovered

Acute liver failure is a rare yet life-threatening disease for young children. It often occurs extremely rapidly, for example, when a child has a fever. Yet in around 50 percent of cases it is unclear...

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Uncovering a key relationship in ALS

A University of Toronto research team has discovered new details about a key gene involved in ALS, perhaps humanity's most puzzling, intractable disease.

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Canadian study sheds surprising light on the causes of cerebral palsy

Cerebral palsy (CP) is the most common cause of physical disability in children. It has historically been considered to be caused by factors such as birth asphyxia, stroke and infections in the...

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Genomic testing triggers a diabetes diagnosis revolution

Over a 10 year period, the time that babies receive genetic testing after being diagnosed with diabetes has fallen from over four years to under two months. Pinpointing the exact genetic causes of...

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ESC recommends DNA analysis in post mortems of young sudden death victims

ESC Guidelines published today recommend DNA analysis as a fundamental component of post mortem assessment in young sudden death victims. Identification of a genetic cause helps to quickly diagnose and...

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Genetic defect underlying a rare disease identified

Researchers at MedUni Vienna have discovered the genetic cause of a rare disease characterized by life-threatening "liver crises" in early childhood and subsequent manifestation of neurological...

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Identifying a genetic mutation behind sporadic Parkinson's disease

Using a novel method, Whitehead Institute researchers have determined how a non-coding mutation identified in genome-wide association studies (GWAS) can contribute to sporadic Parkinson's disease (PD)....

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Study zeroes in on mutation linked to zits

Little is known about the genetic causes of pimples and other forms of acne that plague most teenagers. In a new study, a team of Yale researchers identified a genetic mutation responsible for the...

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Lupus a tough disease to spot, treat

(HealthDay)—Lupus is difficult to diagnose and treat, but scientists are working to learn more about its genetic causes and to develop better treatments.

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Stem cell and genetic editing may unlock treatments for heart disease

Heart muscle diseases are a leading cause of disability and death in children and adults but the causes remain poorly understood. The genetic changes that cause heart muscle disease are in the early...

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Researchers discover genetic causes of higher melanoma risk in men

A study led by researchers at Universitat Jaume I de Castellón has identified one of the genetic causes underlying the higher rate of melanoma in men. The results have been published in Biology of Sex...

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Study: Catalog of DNA variations helps find roots of disease

A huge catalog of human DNA is helping researchers find tiny glitches that cause disease, in part by pointing out some false leads.

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The trials and tribulations of being left-handed

As 13 August is recognised worldwide as International Left-Handers Day, there has been an increased focus over the past week on the biological and genetic causes of left-handedness in humans, as well...

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Parents of children with cancer value sequencing results, even if non-actionable

Parents of children newly diagnosed with cancer value the results of whole exome sequencing for a variety of reasons beyond clinical actionability, according to research presented at the American...

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Why do we need large population studies?

Per Magnus, director of the Norwegian Mother and Child Cohort Study (MoBa) at the NIPH, together with two researchers from the UK and Denmark, have written a commentary article in the latest issue of...

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Social phobia: Indication of a genetic cause

People with social anxiety avoid situations in which they are exposed to judgment by others. Those affected also lead a withdrawn life and maintain contact above all on the Internet. Around one in ten...

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Colorectal Diseases Biobank links genetics and colorectal cancer

What if your family's DNA could become the blueprint for your very own precise and personalized treatment for colorectal cancer? Or, better yet, what if it could be used to help doctors screen you...

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Scientists spot gene for rare disorder causing deafness, blindness

(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.

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Medical mystery solved in record time

In a study published today in PLoS ONE, a team of researchers reports solving a medical mystery in a day's work. In record-time detective work, the scientists narrowed down the genetic cause of...

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Gene science closes in on endometriosis

In the world's largest study into the genetic causes of endometriosis, University of Queensland researchers have helped identify five new gene regions linked to the disease.

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