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Researchers from the Agency for Science, Technology and Research's (A*STAR) Genome Institute of Singapore (GIS), and Rady Children's Institute for Genomic Medicine identified a previously unknown condition affecting children, which they discovered could be prevented by administering a drug during pregnancy. Through a worldwide collaboration, the researchers identified children from Egypt, India, United Arab Emirates, […]
More than 1,125,000 men around the world have the inherited bleeding disorder of hemophilia, and 418,000 of those have a severe version of the mostly undiagnosed disease, says a new study led by McMaster University researchers. This is three times what was previously known. Only 400,000 people globally were estimated to have the disorder which […]
Neurodevelopmental disorders arising from rare genetic mutations can cause atypical cognitive function, intellectual disability, and developmental delays, yet it is unclear why and how this happens. Scientists suspected a mutation in a complex of proteins could be the culprit for a group of rare genetic disorders and, now, Salk Institute researchers have identified the molecular […]
Although psychiatric disorders can be linked to particular genes, the brain regions and mechanisms underlying particular disorders are not well-understood. Mutations or deletions of the SHANK3 gene are strongly associated with autism spectrum disorder (ASD) and a related rare disorder called Phelan-McDermid syndrome. Mice with SHANK3 mutations also display some of the traits associated with […]
Individuals with autism spectrum disorder (ASD) are often lumped into a single catch-all group, despite significant differences in symptom profile and severity. Further muddying the waters when trying to understand and treat ASD, many previous studies show significant variability in findings. A new study, led by researchers at McGill University’s Faculty of Medicine and the […]
Less than one hour of brain training with neurofeedback leads to a strengthening of neural connections and communication among brain areas. This is the main finding of a new study conducted at D’Or Institute for Research and Education (IDOR), published today in Neuroimage. According to the authors, the study may pave the way for the […]
Patients suffering from severe, treatment-resistant depression can benefit not only acutely but also the long-term from deep brain stimulation, as researchers from the Medical Center — University of Freiburg and their colleagues from the University Hospital Bonn demonstrate in a current study. The team used thin electrodes to stimulate a deep seated part of the […]
A nationwide consortium of researchers has identified the first genetic defect linked to biliary atresia, a mysterious liver disease that is the leading cause for liver transplantation in children. The results were published in the journal Hepatology. The causes of biliary atresia were unknown, so this is a major advance that will move the field […]
Researchers have clarified, for the first time, the mechanism behind a very rare brain disorder called MICPCH (microcephaly, disproportionate pontine and cerebellar hypoplasia) syndrome in animal models. Information gleaned from this study could also inform research into other, more common neurological diseases such as mental retardation, epilepsy, and autism. MICPCH has only affected a total […]
A group of scientists led by Ramkumar Menon at The University of Texas Medical Branch at Galveston have gained new insight on a poorly-understood key player in the timing of labor and delivery. This new information brings scientists closer to being able to prevent preterm births. This study is in Scientific Reports. According to the […]