A University of Manchester led team of scientists has discovered that the most common form of adult blindness is probably caused by a failure of at least one of five proteins to regulate the immune system.
Jul 14, 2021
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As many expectant mothers know, getting enough folate is key to avoiding neural tube defects in the baby during pregnancy. But for the individuals who carry certain genetic variants, dealing with folate deficiency can be ...
Jul 1, 2021
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In a new study published today in the American Journal of Human Genetics, researchers announced the development of a new method to increase the utility and equity of large genetic databases. The research was conducted by ...
Jun 21, 2021
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University of Maryland School of Medicine (UMSOM) researchers identified a new gene that may be linked to certain neurodevelopmental disorders and intellectual disabilities. The researchers believe that finding genes involved ...
Jun 21, 2021
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In the two decades since the Human Genome Project mapped the entire human genome, improvements in technology have helped in developing updated reference genomes used for sequencing. But while the GRCh38 (hg38) human reference ...
Jun 14, 2021
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Researchers from the Hong Kong University of Science and Technology (HKUST) and Beijing Tiantan Hospital have recently uncovered a new gene mutation responsible for the non-familial patients of cerebral cavernous malformation ...
Jun 8, 2021
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By analyzing parts of the genome that do not code for proteins, researchers have identified seven variants linked to developmental disorders.
Jun 3, 2021
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New research from the University of Minnesota Medical School found mutations in a novel gene that may help identify patients with a specific form of muscular dystrophy.
Apr 15, 2021
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For the first time researchers from Hebrew University of Jerusalem, Radboudumc, Maastricht UMC+ and international colleagues have gained insight into the "hidden genetic defects" of the general European population. This is ...
Mar 19, 2021
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Mutations in the neurochondrin (NCDN) gene can cause epilepsy, neurodevelopmental delay and intellectual disability. The gene mutation significantly impairs contacts and signaling between neurons in the brain. This is the ...
Mar 19, 2021
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