News tagged with rare genetic disease
Scientists identify genetic mutation behind rare disease
(Medical Xpress)—Researchers from Queen Mary, University of London, and Barts Health NHS Trust have identified the genetic mutation behind a devastating disease of the small intestine.
Genetics
Jan 04, 2013 |
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Sequencing project will map DNA of up to 100,000 patients
A new £100m project will map the DNA of up to 100,000 patients with cancer and other rare diseases.
Genetics
Dec 11, 2012 |
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Gene that causes tumor disorder linked to increased breast cancer risk
New Johns Hopkins research showing a more than four-fold increase in the incidence of breast cancer in women with neurofibromatosis-1 (NF1) adds to growing evidence that women with this rare genetic disorder may benefit from ...
Cancer
Nov 27, 2012 |
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Study advances use of stem cells in personalized medicine
Johns Hopkins researchers report concrete steps in the use of human stem cells to test how diseased cells respond to drugs. Their success highlights a pathway toward faster, cheaper drug development for some genetic illnesses, ...
Medical research
Nov 26, 2012 |
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A new way of looking at Prader-Willi Syndrome
An Australian study reveals that people with the rare genetic disorder known as Prader-Willi Syndrome may have an impaired autonomic nervous system. This discovery opens up a new way of looking at the insatiable appetite ...
Diseases, Conditions, Syndromes
Nov 15, 2012 |
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Global genome effort seeks genetic roots of disease
By decoding the genomes of more than 1,000 people whose homelands stretch from Africa and Asia to Europe and the Americas, scientists have compiled the largest and most detailed catalog yet of human genetic ...
Genetics
Oct 31, 2012 |
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Genetic error linked to rare disease that causes chronic respiratory infections
(Medical Xpress)—Scanning the DNA of two people with a rare disease has led scientists to identify the precise genetic error responsible for their disorder, primary ciliary dyskinesia.
Genetics
Oct 16, 2012 |
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Scientists discover gene behind rare disorders
Scientists at the Montreal Neurological Institute and Hospital – The Neuro, McGill University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders.
Genetics
Oct 09, 2012 |
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First study of clonal evolution in Maxillary Sinus Carcinoma
Knowing how tumors evolve can lead to new treatments that could help prevent cancer from recurring, according to a study published today by the Translational Genomics Research Institute (TGen) and Scottsdale Healthcare.
Cancer
Sep 28, 2012 |
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Genetic discovery for hereditary spastic ataxia—rare disease in Newfoundland
Researchers from the Guy Rouleau Laboratory affiliated with the CHUM Research Centre and the CHU–Sainte-Justine Research Centre have discovered the genetic cause of a rare disease reported only in patients originating from ...
Genetics
Sep 06, 2012 |
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Afinitor disperz approved for rare pediatric cancer
(HealthDay)—The U.S. Food and Drug Administration has approved Afinitor Disperz (everolimus tablets for oral suspension), the first form of the anti-cancer drug Afinitor to be created especially for children.
Medications
Aug 29, 2012 |
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Vitamin B12 deficiency: Tracking the genetic causes
Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, ...
Genetics
Aug 26, 2012 |
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Novel surgery at Packard Children's repairs boy's airway, voice box
Noah Jackson was born without a voice. Because of a rare genetic disease, his airway was so narrow he couldn't cry at birth. In fact, he could scarcely breathe, and had surgery when he was 5 days old to implant ...
Surgery
Jul 16, 2012 |
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Deleting a single gene results in autism-like behavior; immunosuppressant drug prevents symptoms
Deleting a single gene in the cerebellum of mice can cause key autistic-like symptoms, researchers have found. They also discovered that rapamycin, a commonly used immunosuppressant drug, prevented these symptoms.
Genetics
Jul 02, 2012 |
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Cause of rare growth disease discovered
A rare genetic disease which causes some parts of the body to grow excessively has been linked to a cancer-associated mutation that drives cell growth, potentially paving the way for new treatments. The research ...
Genetics
Jun 25, 2012 |
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