The most common mutation in the human genome is the C>T mutation, which causes half of all genetic diseases resulting from point mutations. For example, the one causing Hutchinson-Gilford progeria syndrome, a genetic disease ...
Jun 2, 2022
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695
When MUSC Hollings Cancer Center researcher Jezabel R. Blanco, Ph.D., began studying neurosciences, first as a graduate student and later as a postdoctoral fellow, her research was focused on understanding the mechanisms ...
Jul 21, 2022
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41
A drug approved to treat a severe form of asthma dramatically improved the health of people with rare chronic immune disorders called hypereosinophilic syndromes (HES) in whom other treatments were ineffective or intolerable. ...
Apr 3, 2019
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942
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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138
Jordan Janz knew his gamble on an experimental gene therapy for his rare disease might be paying off when he returned to work and a friend sniffed him.
Jun 2, 2021
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5
Up to 90 percent of people with amyotrophic lateral sclerosis (ALS) report that they have no family history of the disease. Now, new research has found approximately 17 percent of such ALS cases may be caused by a gene mutation, ...
Jun 21, 2017
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1
Incentives intended to stimulate the development of more treatments for rare diseases are being exploited to boost the profits of pharmaceutical companies, new research led by Bangor University shows.
Oct 21, 2016
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94
A toddler is thriving after doctors in the U.S. and Canada used a novel technique to treat her before she was born for a rare genetic disease that caused the deaths of two of her sisters.
Nov 12, 2022
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5
What treatments are available for patients with the rare inflammatory disease known as urticarial vasculitis? How effective are these treatments? Researchers from Charité - Universitätsmedizin Berlin embarked on a systematic ...
Oct 31, 2018
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1
A new study shows that people with a rare genetic disease that causes bleeding in the brain have gut microbiomes distinct from those without the disease. Moreover, it is the molecules produced by this bacterial imbalance ...
May 27, 2020
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