Induced pluripotent stem cells (iPSC) are suitable for discovering the genes that underly complex, rare genetic diseases. Scientists from the German Cancer Research Center (DKFZ) and the European Molecular Biology Laboratory ...
Mar 4, 2021
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A technology that is widely used by commercial genetic testing companies is "extremely unreliable" in detecting very rare variants, meaning results suggesting individuals carry rare disease-causing genetic variants are usually ...
Feb 15, 2021
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In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. The discovery of this condition and Bertrand's diagnosis allowed doctors to ...
Jan 27, 2021
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In a paper published today in the American Journal of Human Genetics, a group of international collaborators led by researchers from the University of Pittsburgh School of Medicine identified new genetic associations that ...
Dec 11, 2020
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A rare genetic condition which causes inflammatory bowel disease can be successfully treated by bone marrow transplant, according to University of Manchester and Manchester University NHS Foundation Trust researchers.
Oct 13, 2020
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Researchers at Yale have identified a possible treatment for Duchenne muscular dystrophy (DMD), a rare genetic disease for which there is currently no cure or treatment, by targeting an enzyme that had been considered 'undruggable.' ...
Sep 11, 2020
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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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A Texas A&M AgriLife Research team has good news for patients with copper-deficiency disorders, especially young children diagnosed with Menkes disease.
May 8, 2020
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Scientists describe a previously unknown disorder of the immune system: in a distinct subset of immune cells from patients with primary immunodeficiency, cellular respiration is significantly increased. This cellular metabolic ...
Sep 16, 2019
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113
Most babies who are born with arginase deficiency—a rare genetic disease that leads to the accumulation of the amino acid arginine in the blood—don't have symptoms at first. By the time they're toddlers, however, their ...
Sep 10, 2019
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