Scientists at Scripps Research have found an important immune system-regulating protein that in principle could be targeted to treat cancers and chronic viral infections.
Nov 27, 2018
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35
Researchers at The Australian National University (ANU) have discovered a new genetic disease and a method for detecting more unexplained medical conditions.
Oct 18, 2018
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1
Today, diagnosing rare genetic diseases requires a slow process of educated guesswork. Gill Bejerano, Ph.D., associate professor of developmental biology and of computer science at Stanford, is working to speed it up.
Aug 17, 2018
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Early childhood seizures result from a rare disease that begin in the first months of life. Researchers at University of Utah Health have developed high-tech tools to uncover the genetic cause of the most difficult to diagnose ...
Aug 13, 2018
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The baby looked healthy at first. But within two hours, he was having severe seizures.
May 30, 2018
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1
New research led by the Murdoch Children's Research Institute (MCRI), has combined gene editing technology with stem cell kidney regeneration to correct a patient's gene mutation.
May 4, 2018
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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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Patients diagnosed with heart failure, stroke, infertility and kidney failure could actually be suffering from rare and undiagnosed genetic diseases.
Mar 15, 2018
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233
Hutchinson-Gilford syndrome (HGPS, also known as progeria) is a very rare genetic disease that affects fewer than 400 people globally, and for which there is no effective treatment. HGPS is characterized by early aging accompanied ...
Mar 6, 2018
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186
They are many rare genetic diseases that strike perhaps only one in a million people. Often incurable, they can be profoundly debilitating and frequently life-threatening. Though each particular disease is rare, they number ...
Feb 28, 2018
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