DNA sequences between mitochondria within a single cell are vastly different, found researchers in the Perelman School of Medicine at the University of Pennsylvania. This knowledge will help to better illuminate the underlying ...
Dec 6, 2017
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(HealthDay)—About one-quarter of adults with chronic kidney disease (CKD) of unknown cause or familial nephropathy or hypertension have diagnostic mutations, which can be identified with whole-exome sequencing (WES), according ...
Dec 5, 2017
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Scientists successfully reduced the symptoms of a blood disease called myeloproliferative neoplasm in mouse models by interrupting an important regulatory pathway, according to a Northwestern Medicine study published in the ...
Dec 1, 2017
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St. Jude Children's Research Hospital investigators have shown that using the drug hydroxyurea to boost average fetal hemoglobin levels above 20 percent in children and teenagers with sickle cell anemia was associated with ...
Nov 9, 2017
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A unique collaboration among Shriners Hospital for Children – Canada, CHU Sainte-Justine and McGill University has enabled researchers to identify genetic mutations involved in a rare disease that causes scoliosis and bone ...
Nov 3, 2017
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Scientists at the University of California, Berkeley, have engineered a new way to deliver CRISPR-Cas9 gene-editing technology inside cells and have demonstrated in mice that the technology can repair the mutation that causes ...
Oct 3, 2017
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The human population carries around more deadly genetic diseases than would be expected based on a simple comparison of mutation rates and deaths of affected individuals. Carlos Eduardo Guerra Amorim of Stony Brook University ...
Sep 28, 2017
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In a study published this month in Hepatology, a multinational team of researchers describes a newly identified cause of congenital diarrhea and liver disease in children.
Sep 28, 2017
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Physicians are increasingly using genetic testing to unravel mysterious or rare diseases in patients with baffling symptoms. But untangling mystifying symptoms is only half the battle. The next frontier in genomic analysis ...
Sep 12, 2017
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A gene called triggering receptor expressed on myeloid cells 2, or TREM2, has been associated with numerous neurodegenerative diseases, such as Alzheimer's disease, Frontotemporal lobar degeneration, Parkinson's disease, ...
Aug 30, 2017
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