Oncology & Cancer
Pale melanomas masked by albino gene
People with pale colored melanomas are more likely to have a gene mutation associated with albinism, University of Queensland research has found.
Sep 23, 2020
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Page 4 - News tagged with rare gene mutations
Medical research
Gene therapy generates new neurons to treat Huntington's disease
Huntington's disease (HD) is a rare disease characterized by abnormal chorea movement and caused by the Huntingtin (Htt) gene mutation and neurodegeneration in a brain area called the striatum. A research group led by Dr. ...
Feb 28, 2020
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Ophthalmology
High-tech imaging reveals details about rare eye disorder
Using a new imaging technique, researchers from the National Eye Institute have determined that retinal lesions from vitelliform macular dystrophy (VMD) vary by gene mutation. Addressing these differences may be key in designing ...
Jul 28, 2022
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Genetics
Rare mutations do not explain 'missing heritability' in asthma
Despite a strong suspected link between genetics and asthma, commonly found genetic mutations account for only a small part of the risk for developing the disease - a problem known as missing heritability.
Jan 16, 2015
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Neuroscience
Rare neurological disease shines light on health of essential nerve cells
Ian Duncan is a Scotsman with the iron discipline and stamina of a competitive marathoner, triathlete and cross-country skier. As a neuroscientist at the School of Veterinary Medicine at the University of Wisconsin-Madison, ...
Jan 22, 2015
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Diseases, Conditions, Syndromes
FDA clears investigational drug for ALS gene therapy trials
Apic Bio, a gene therapy company developing treatment options for patients with rare genetic diseases and co-founded by UMass Medical School's Robert H. Brown Jr., DPhil, MD, announced that the FDA has cleared its investigational ...
Apr 22, 2021
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Genetics
Large genomic databases hold clues linking genetic mutations to future disease risk
Physicians are increasingly using genetic testing to unravel mysterious or rare diseases in patients with baffling symptoms. But untangling mystifying symptoms is only half the battle. The next frontier in genomic analysis ...
Sep 12, 2017
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Genetics
Researchers identify genetic mutation for rare cancer
By looking at the entire DNA from this one patient's tumor, researchers have found a genetic anomaly that provides an important clue to improving how this cancer is diagnosed and treated.
Jan 15, 2013
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Alzheimer's disease & dementia
Study confirms that rare mutations increase risk of late-onset Alzheimer's disease
Massachusetts General Hospital (MGH) researchers have identified and validated two rare gene mutations that appear to cause the common form of Alzheimer's disease (AD) that strikes after the age of 60. The two mutations occur ...
Sep 24, 2013
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Neuroscience
Novel gene therapy may help treat a fatal developmental epilepsy syndrome that affects children
An innovative gene therapy may help treat a severe and fatal developmental epilepsy syndrome that affects children. Researchers hope that this genetic therapy can also be adapted to other types of genetic epilepsies and think ...
Jun 22, 2023
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