Genetic researchers at Nagoya University, Japan, have delved into the genetic underpinning of a rare skin condition affecting children that is unusually common in Japan.
A mutation in a protein regulating natural killer (NK) cells' function is at the root of immune deficiency in some people with a rare genetic condition characterized by cognitive and developmental delay, seizures, and other ...
Apr 9, 2024
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Researchers from the University of Tokyo reveal how the presynaptic Ube3a E3 ligase, a causal factor in Angelman syndrome, eliminates neural chatter. The study helps find a better drug target for the Angelman syndrome treatment.
Sep 14, 2023
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Infertility can have genetic causes, but pinpointing the culprit mutations is difficult because fertility and reproduction are controlled by many genes. These genes also carry many harmless but suspicious mutations in different ...
Aug 25, 2023
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A new family of DNA elements which control the activation of certain genes known to cause a rare disease known as MSL3 syndrome in children has been identified.
Jun 12, 2023
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Sometimes scientists arrive at new findings and discoveries by chance. That was the case when Thilini Gamage was to carry out one of the studies in her doctoral work with Professor Eirik Frengen at the Institute of Clinical ...
May 16, 2023
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Despite the increasing use of genomic sequencing in clinical practice, interpreting rare genetic mutations, even among well-studied disease genes, remains difficult. Current predictive models are useful for interpreting those ...
Apr 21, 2023
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Scientists may have solved the question of why Ashkenazi Jews are significantly more susceptible to a rare genetic disorder known as Gaucher disease—and the answer may help settle the debate about whether they are less ...
Feb 6, 2023
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Oregon State University College of Pharmacy scientists have demonstrated in animal models the possibility of using lipid nanoparticles and messenger RNA, the technology underpinning COVID-19 vaccines, to treat blindness associated ...
Jan 11, 2023
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Research led by Associate Professor Duc Dong, Ph.D., has shown for the first time that the effects of Alagille syndrome, an incurable genetic disorder that affects the liver, could be reversed with a single drug. The study, ...
Jan 5, 2023
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