The largest ever survey on global public attitudes towards genomic research and data sharing suggests that work is needed to raise levels of public trust in how genetic data is used in order for that data to fulfil its promise ...
Sep 17, 2020
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81
A study shows, for the first time, that epigenetic defects in the human genome are widespread, and occur at hundreds of genes known to cause genetic diseases.
Sep 15, 2020
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600
Best vitelliform macular degeneration, or Best disease, is an inherited eye condition that typically leads to blindness over the course of a few decades. The disease can be caused by more than two hundred mutations in the ...
Jul 31, 2020
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209
Breaks and rearrangements in the genome can lead to severe diseases, even if all genes remain intact. Hi-C, a method to map the three-dimensional structure of chromosomes, promises more reliable and accurate diagnoses of ...
Jul 24, 2020
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96
A Melbourne led study has uncovered a new neurodegenerative disorder in which children experience developmental regression and severe epilepsy.
Mar 20, 2020
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265
Researchers have assembled one of the most comprehensive studies of population genetics ever conducted in the United States, bringing together large-scale genetics data from more than 32,000 participants in the National Geographic ...
Mar 5, 2020
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116
At least one in five cases of infertility remain unexplained. Male factors contribute to about half of these cases and, much of the time, men lack a specific causal diagnosis for their infertility. Researchers estimate that ...
Dec 19, 2019
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22
Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children. The newly diagnosed condition, called NKAP-related syndrome, ...
Oct 3, 2019
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294
In a new study published in American Journal of Human Genetics, a team of researchers led by Charis Eng, M.D., Ph.D., Chair of Cleveland Clinic's Genomic Medicine Institute, identified a metabolite that may predict whether ...
Sep 26, 2019
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73
A team of researchers at Children's Hospital of Philadelphia (CHOP) affiliated with the CHOP Epilepsy Neurogenetics Initiative (ENGIN) discovered a new gene associated with severe childhood epilepsy using a novel computational ...
May 16, 2019
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18
