Genetics
Insight into cause of rare disorder may aid quest for treatments
Fresh discoveries about a rare genetic disorder that affects mainly boys may inform the development of therapies to treat the condition.
Dec 12, 2018
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Page 11 - News tagged with rare genetic disorders
Oncology & Cancer
Team studying rare disorder discovers novel way to target melanoma
While studying a rare genetic disorder called NGLY1 deficiency, University of North Texas Health Science Center (UNTHSC) researchers discovered a new targeted treatment for combating melanoma, a skin cancer that kills about ...
Nov 5, 2018
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Neuroscience
Scientists uncover how rare gene mutation affects brain development and memory
Researchers from the University of California, Irvine School of Medicine, have found that a rare gene mutation alters brain development in mice, impairing memory and disrupting the communication between nerve cells. They ...
Oct 18, 2018
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Genetics
Researchers using 3-D facial scans to aid diagnosis of children with rare genetic syndrome
Clemson University faculty have been awarded a grant from the National Institutes of Health to investigate the use of 3-D imaging that could allow for quicker diagnosis of children with Phelan-McDermid syndrome, a rare genetic ...
Oct 10, 2018
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Genetics
Potential drug to cure ciliopathies
Ciliopathies are rare disorders involving functional and structural abnormalities of cilia. Although they are rare, they may reach 1 in 1,000 births. Unfortunately, there are no small-molecule drugs for treating ciliary defects. ...
Aug 30, 2018
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Oncology & Cancer
Rewriting our understanding of gastric tumors
The immune system can be an important ally in the fight against cancer. A study from McGill scientists published today in Science suggests that the reverse may also be true—that abnormal inflammation triggered by the immune ...
Jul 26, 2018
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Ophthalmology
New diagnostic technique picks up the S in vision
A new technique that could help improve diagnosis of vision disorders has been successfully tested at the University of Bradford, UK.
May 1, 2018
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Medications
Scientist searches for alternatives to opioids
Since ancient times, humans have used opium and its derivatives to block pain. Yet in all that time, no one has found a solution to two main side effects of opioids—addiction and overdose.
Apr 10, 2018
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Neuroscience
Delaying epilepsy onset could reduce impact on development
The case of a young boy with a rare genetic disorder over a decade ago has led to a multi-million Euro research project that is raising hopes of new approaches to childhood epilepsy.
Apr 9, 2018
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Neuroscience
Biomarker, clues to possible therapy found in novel childhood neurogenetic disease
Researchers studying a rare genetic disorder that causes severe, progressive neurological problems in childhood have discovered insights into biological mechanisms that drive the disease, along with early clues that an amino ...
Feb 22, 2018
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