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
0
30
More than 7% of human oocytes contain at least one exchangeless chromosome pair, demonstrating a remarkably high level of meiotic recombination failure, finds a study appearing December 10 in the American Journal of Human ...
Dec 10, 2020
0
100
Physicians and scientists are constantly on the lookout for new disease genes that can help them understand why patients have undiagnosed medical problems. Often the first clues come from genetic testing that reveals a change ...
Nov 23, 2020
0
42
A mutation in the CLCN6 gene is associated with a novel, particularly severe neurodegenerative disorder. Scientists from the Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP) and the Max Delbrück Center für ...
Nov 19, 2020
0
6
A vast majority of doctors and parents of babies in intensive care, with diseases of unknown origin, believe genomic sequencing is beneficial in managing care, according to two new papers published by Rady Children's Institute ...
Nov 5, 2020
0
27
The plant compound apigenin improved the cognitive and memory deficits usually seen in a mouse model of Down syndrome, according to a study by researchers at the National Institutes of Health and other institutions. Apigenin ...
Oct 23, 2020
0
38
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
0
81
Greenwood Genetic Center (GGC) researchers, in collaboration with scientists from Belgium, Spain, and Italy, have confirmed that variants in LMNB1 cause syndromic microcephaly with variable short stature, intellectual disability, ...
Sep 17, 2020
0
4
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
0
600
Penicillin, a life-saving medicine, is the most common cause of drug allergy, with clinical manifestations ranging from temporary skin reactions to life-threatening systemic syndromes. Thus far, genetic factors have only ...
Sep 3, 2020
0
12
