Tag: Genetics
KRAS Mutations Linked to Brain Arteriovenous Malformations
Most tissue samples of arteriovenous malformations of the brain had somatic activating KRAS mutations
ACOG Advocates Cascade Testing for Hereditary Gene Mutations
Ob-gyns should identify eligible patients, offer testing, and assist in decreasing barriers to testing
Neuroanatomic Abnormalities ID’d in Those at Risk for Autism
Seen in carriers of deletion or duplication at 16p11.2, a common cause of autism spectrum disorder
Gene Polymorphisms Linked to Risk of Chronic Post-Op Pain
Genetic variations, age, gender, history of chronic pain all associated with risk
Majority of Women Prefer Non-Invasive Testing for Trisomy 21
Yet, roughly one-third still want an invasive secondary test plus chromosomal microarray
Multiple Myeloma Survival Down With High ADAR1 RNA Expression
ADAR1 knockdown reduces regeneration of high-risk multiple myeloma in patient-derived xenografts
DNA Sequencing Identifies Alpha-1 Antitrypsin Deficiency
Six rare mutations identified in seven subjects that would not have been uncovered without sequencing
ASH: New Approach to Gene Tx Restores Immune Cells in X-SCID
Efficient vector marking in bone marrow CD34+ cells, myeloid cells, B cells in newly diagnosed SCID
Gene Therapy Shows Beneficial Effect in Men With Hemophilia B
Reduction in annualized bleeding rate and in factor use with infusion of viral vector with transgene
Lipid-Linked Genetic Risk Tied to Abdominal Aortic Aneurysm
Genetic elevation of LDL-C linked to increased AAA risk; increase for HDL-C linked to lower risk of AAA
