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Genomic Sequencing

All articles tagged with #genomic sequencing

science1 year ago

"Collaborating for Ethical Research: The Role of Humanists in Scientific Inquiry"

The All of Us Research Program faced public backlash for its presentation of diversity in genomic data, highlighting the need for scientists to consider societal impacts of their research. The use of UMAP in the study has sparked debate, emphasizing the importance of incorporating humanities experts into genomic studies. The author, a neuroscience researcher, advocates for a multidisciplinary approach that considers both the science and humanity of traumatic experiences, stressing the need for scientists to minimize potential harms and engage with non-STEM experts to present findings responsibly.

via STAT|
#all-of-us-research-program#epigenetics#genomic-sequencing
health2 years ago

Uncovering the True Power of Estrogen in Breast Cancer Development

Harvard Medical School researchers have identified the molecular trigger that initiates a cascade culminating in breast tumor development in a subset of breast cancers that are driven by estrogen. The study shows that estrogen is the culprit behind this molecular dysfunction because it directly alters a cell’s DNA. The findings suggest that estrogen-suppressing drugs such as tamoxifen may prevent estrogen from initiating cancer-causing genomic rearrangements in the cells, in addition to suppressing mammary cell proliferation.

via Harvard Gazette|
#breast-cancer#cancer-research#dna
health2 years ago

Major study discovers 60 new rare genetic disorders in UK and Ireland.

A major study involving the sequencing of genomes of over 13,500 families with a child with a severe developmental disorder across the UK and Ireland has led to the genetic diagnosis of 5,500 children with severe developmental disorders, including 60 new conditions previously discovered by the study. The diagnoses were made possible by sharing data across all diagnostic centres in the UK and Ireland, as well as some from international colleagues. The study will be used to improve the speed and accuracy of NHS diagnoses and create "the most advanced genomic healthcare system in the world".

via The Guardian|
#diagnosis#genetic-disorders#genomic-sequencing