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Tag: Genetics

For patients with severe β-thalassemia

Gene Therapy Found to Be Promising for β-Thalassemia

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CD34+ cells transduced with BB305 vector lowered or eliminated need for red-cell transfusions
Males with BRCA mutations have increased incidence of malignant disease

Males With BRCA Mutations Have Increased Risk of Certain Cancers

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Increased incidence of malignant disease, specifically prostate, melanoma, pancreas, breast cancers
Transcription factors seem to operate across gene loci

TFs Operate Across Gene Loci Within Disease Phenotypes

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Epstein-Barr virus EBNA2 protein binds to multiple loci of genome, increasing risk of 7 serious diseases
Fitness and physical activity are tied to lower risk of incident cardiovascular disease in the general population and among individuals with elevated genetic risk for cardiovascular diseases

Exercise Best Defense for Those at Genetic Risk for CVD

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Benefit of exercise against cardiovascular disease notable even among those at high genetic risk
Using CYP2C19 genotype-guided dual antiplatelet therapy selection is feasible in a real-world setting

Genotype-Guided Antiplatelet Therapy Feasible, Effective

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Genotype-guided therapy improves outcomes among CYP2C19 intermediate, poor metabolizers
A primary mechanism for APOE gene-mediated plaque formation may result from apoE aggregation

apoE Aggregation May Impact apoE-Mediated Plaque Formation

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Anti-human apoE-4 antibody preferentially binds unlipidated aggregated apoE over lipidated version
The complete genome sequence of fetuses can be elucidated from amniotic fluid

Complete Genome Sequence Can Be ID’d From Amniotic Fluid

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Concordance of variant calls between cellular, cell-free DNA, with parental libraries >96 percent
Vigil immunotherapy shows good tolerability for recurrent ovarian cancer patients

Vigil Immunotherapy Tolerated Well for Recurrent Ovarian CA Tx

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And, PARP 7 protein plays significant role; survival up with genetic mutations, higher expression levels
Genetic heart diseases cause fewer cases of sudden infant death syndrome than previously thought

Fewer SIDS Cases Result From Genetic Heart Disease Causes

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Findings may help prevent unnecessary genetic testing of surviving family members
Many women with early-stage breast cancer with indications for formal genetic risk evaluation do not receive formal counseling

Too Few Early Breast CA Patients Given Formal Genetic Counseling

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43.5% of women with early-stage breast cancer with indications for risk evaluation get counseling