Genetics
Gene editing possible for kidney disease
For the first time scientists have identified how to halt kidney disease in a life-limiting genetic condition, which may pave the way for personalised treatment in the future.
Nov 16, 2018
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Page 6 - News tagged with genetic syndrome
Genetics
Solving a medical mystery: Cause of rare type of dwarfism discovered
For children born with Saul-Wilson syndrome, and their parents, much of their lives are spent searching for answers. First defined in 1990, only 14 cases are known worldwide. And the cause of the syndrome—characterized ...
Oct 4, 2018
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Genetics
Stray proteins cause genetic disorders
The seizures typically begin in the first months of life. It often takes years, however, before those suffering from the rare glucose transporter type 1 (Glut1) deficiency syndrome obtain a correct diagnosis. If the disorder ...
Sep 6, 2018
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Genetics
Mutations in neurons accumulate as we age: The process may explain normal cognitive decline and neurodegeneration
Scientists have wondered whether somatic (non-inherited) mutations play a role in aging and brain degeneration, but until recently there was no good technology to test this idea. A study published online today in Science, ...
Dec 7, 2017
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Neuroscience
Restless legs syndrome study identifies 13 new genetic risk variants
A new study into the genetics underlying restless legs syndrome has identified 13 previously-unknown genetic risk variants, while helping inform potential new treatment options for the condition.
Oct 13, 2017
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Health
Insomnia genes found
An international team of researchers has found, for the first time, seven risk genes for insomnia. With this finding the researchers have taken an important step towards the unravelling of the biological mechanisms that cause ...
Jun 12, 2017
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Genetics
Gene ABL1 implicated in both cancer and a developmental disorder
ABL1, a human gene well-known for its association with cancer now has been linked to a developmental disorder. The study, which was carried out by a team of researchers from institutions around the world, including Baylor ...
Mar 14, 2017
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Genetics
Research leads to new treatment recommendations for a high-risk pediatric leukemia
Research led by St. Jude Children's Research Hospital has identified three genetic alterations to help identify high-risk pediatric patients with acute megakaryoblastic leukemia (AMKL) who may benefit from allogeneic stem ...
Jan 23, 2017
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Genetics
Scientists uncover genetic explanation for frustrating syndrome
Scientists at the National Institutes of Health have identified a genetic explanation for a syndrome characterized by multiple frustrating and difficult-to-treat symptoms, including dizziness and lightheadedness, skin flushing ...
Oct 17, 2016
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Genetics
Discovery yields answers for family with thoracic aortic aneurysm and dissection
A new finding by clinicians and geneticists may solve a medical mystery that one family has faced for the last 15 years and help identify the cause of a rare aortic disease in other patients as well. Through genetic analysis ...
Jul 18, 2016
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