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Tag: Genetics

The drug eteplirsen should not be approved for treatment of Duchenne muscular dystrophy

FDA Panel Votes Against Approval of Eteplirsen for DMD

Clinical data did not meet the agency's requirements for well controlled studies necessary for approval
Histamine may contribute to exercise recovery in skeletal muscle

Do Antihistamines Blunt Exercise Recovery?

Histamine blockade changes expression of genes that respond to exercise
The BRCA1 gene mutation may also be tied to potential fertility issues

BRCA1 Mutation May Reduce Women’s Fertility

The BRCA1 mutation may speed the aging of a woman's ovaries
Many breast cancer patients receive chemotherapy they don't need

AACR: Many Breast Cancer Patients May Not Need Chemo

Genetic test can help doctors determine who can safely avoid treatment after surgery
Telomere length is associated with an increased risk of myocardial infarction

Telomere Length Tied to Higher Myocardial Infarction Risk

Large multiethnic study shows linear relationship when telomere length is divided into tertiles
Genetics could play a role in the development of melanoma even for skin without extensive sun exposure

MC1R Variants May Up Melanoma Risk, Even Without Sun Exposure

Variant of gene linked to skin pigmentation tied to higher risk
Familial hypercholesterolemia mutations are seen in less than 2 percent of individuals with low-density lipoprotein cholesterol ≥190 mg/dL

ACC: Prevalence of Familial Hypercholesterolemia <2 Percent

For any given observed LDL cholesterol level, increased risk for CAD for FH mutation carriers
Specific cannabis dependence risk alleles have been identified

Genetic Factors Associated With Cannabis Dependence Identified

Genome-wide association ID'd three independent regions with single nucleotide polymorphisms
Intracoronary delivery of adenovirus 5 encoding adenylyl cyclase 6 is safe for patients with heart failure and reduced ejection fraction

Gene Transfer Explored As Way to Up LV Function in Heart Failure

AC6 gene transfer increased left ventricular function through a single administration
The 2011 criteria improve diagnosis of long QT syndrome

2011 Criteria Facilitate Diagnosis of Long QT Syndrome

2011 LQTS diagnostic criteria can identify more mutation carriers as being at high probability of LQTS