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Tag: Genetics

High SARS-CoV-2 Genomic Load Tied to Worse Outcomes

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Genomic load independent risk factor for composite outcome of death, intubation, ECMO

American and French scientists have won the 2020 Nobel Prize in chemistry for their work developing the revolutionary gene-editing tool CRISPR-Cas9.

U.S., French Researchers Awarded Nobel Prize in Chemistry

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Recipients are University of California at Berkeley biochemist Jennifer Doudna and Emmanuelle Charpentier of France
In a genome-wide association study

14 Novel Loci Identified for Abdominal Aortic Aneurysm

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Genetic increase of 10 mm Hg in diastolic blood pressure likely has causal link with AAA
Genetically predicted body mass index significantly increases the risk of rheumatoid arthritis

Genetically Predicted BMI Increases Rheumatoid Arthritis Risk

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Effect consistent across sensitivity analyses and comparable for men and women
Genotyping may provide some clinical benefit in prescribing antiplatelet therapies for patients undergoing percutaneous coronary intervention

CYP2C19 Genotyping May Aid Antiplatelet Prescribing

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Benefit only seen for composite outcome, not for major or minor bleeding incidents
Genetic editing of embryos should not be attempted yet because the science is not advanced enough to ensure safety

Science Not Yet Advanced Enough for Genetic Editing of Embryos: Expert Panel

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However, panel has not taken a position on whether genetic editing of embryos is ethical
About half of couples referred for counseling due to a family history of kidney disease opt for preimplantation genetic testing for monogenic kidney disease

Many Opt for Genetic Testing of Embryos for Kidney Disease

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65 percent of couples using IVF who selected testing had at least one live birth of an unaffected child
Pediatric and young adult cancer survivors

p16INK4a Expression Increased in Young Cancer Survivors

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Signs of age acceleration at molecular level also seen in frail survivors, in children after cancer therapy
As a result of the Philadelphia Prostate Cancer Consensus Conference

Guidance Issued for Genetic Testing in Prostate Cancer

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Germline testing advised for metastatic disease, family history suggestive of hereditary disease
Age at surgery

Factors Tied to Hormone Therapy Use After Oophorectomy ID’d

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Age, education, preventive mastectomy linked to hormone therapy use in BRCA mutation carriers