Scientists have identified over 10,000 rare diseases with the majority of these diseases being genetic in origin. The vast majority of patients with these diseases experience long and grueling diagnostic odysseys and their ...
Aug 3, 2022
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The genetics of autism is complex and possibly influenced by mutations with very large effects. EU genomics research has found more candidate genes that increase susceptibility to the condition.
Sep 14, 2012
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An international collaboration including Javier Belda, professor of surgery at the University of Valencia, has reported a new genetic variant associated with acute respiratory distress syndrome (ARDS). The work, with a sample ...
Jan 28, 2019
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An international team of researchers has identified a new rare genetic condition - a chromosome breakage syndrome associated with severe infections and lung disease in infants. The discovery provides an explanation for this ...
Jul 18, 2016
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Gene discovery research is uncovering new information about similarities and differences underlying various neurodevelopmental disorders.
Feb 23, 2017
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A new study from McLean Hospital/Harvard Medical School and the University of Colorado concludes that genetic research drawing correlations between specific genes, environmental variables and the combined impact they have ...
Sep 8, 2011
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IgA deficiency is one of the most common genetic immunodeficiency disorders in humans and is associated with an insufficiency or complete absence of the antibody IgA. Researchers led from Uppsala University and Karolinska ...
Jul 30, 2015
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(Medical Xpress)—Like Huntington's disease, Parkinson's disease, and Alzheimer's disease, spinocerebellar ataxia type 1 (SCA1) is a devastating neurodegenerative disease caused when a toxic protein accumulates inside nerve ...
Jul 17, 2013
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Predicting genes that can cause disease due to the production of truncated or altered proteins that take on a new or different function, rather than those that lose their function, is now possible thanks to an international ...
Jul 19, 2018
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More than 4% of adolescents suffer from early or late-onset puberty, which is associated with health problems including obesity, type-2 diabetes, heart disease and cancer. The findings of the study will make diagnosis easier ...
Mar 26, 2014
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