Genetic effects on gene expression across human tissues

Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to identify genes and pathways affected by human disease-associated variation, enabling a mechanistic interpretation of gene regulation and the genetic basis of diseas

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Penetrance of variants in monogenic disease and clinical utility of common polygenic variation has not been well explored on a large-scale. Here, the authors use exome sequencing data from 77,184 individuals to generate penetrance estimates and assess the utility of polygenic variation in risk prediction of monogenic variants

Genetic effects on gene expression across human tissues

Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to identify genes and pathways affected by human disease-associated variation, enabling a mechanistic interpretation of gene regulation and the genetic basis of disease

Zero Energy Lab (Semester Unknown) IPRO 337: ZeroEnergyLabandDesigningTheIPROTeamCollaboratorySpaceIPRO337ProjectPlanF09

The goal of this IPRO is to continue the research and application of previous research into ‘Zero Energy’ techniques, while simultaneously evaluating an old CTA building on the IIT campus for its feasibility both as a collaboratory IPRO space and as a ‘Zero Energy’ building.Deliverable

Zero Energy Lab (Semester Unknown) IPRO 337: ZeroEnergyLabandDesigningTheIPROTeamCollaboratorySpaceIPRO337FinalReportF09

The goal of this IPRO is to continue the research and application of previous research into ‘Zero Energy’ techniques, while simultaneously evaluating an old CTA building on the IIT campus for its feasibility both as a collaboratory IPRO space and as a ‘Zero Energy’ building.Deliverable

Zero Energy Lab (Semester Unknown) IPRO 337: ZeroEnergyLabandDesigningTheIPROTeamCollaboratorySpaceIPRO337AbstractF09

The goal of this IPRO is to continue the research and application of previous research into ‘Zero Energy’ techniques, while simultaneously evaluating an old CTA building on the IIT campus for its feasibility both as a collaboratory IPRO space and as a ‘Zero Energy’ building.Deliverable

Zero Energy Lab (Semester Unknown) IPRO 337

The goal of this IPRO is to continue the research and application of previous research into ‘Zero Energy’ techniques, while simultaneously evaluating an old CTA building on the IIT campus for its feasibility both as a collaboratory IPRO space and as a ‘Zero Energy’ building.Deliverable

A randomized, double-blind, placebo-controlled trial of antidepressants in Parkinson disease

OBJECTIVE: To evaluate the efficacy and safety of a selective serotonin reuptake inhibitor (SSRI) and a serotonin and norepinephrine reuptake inhibitor (SNRI) in the treatment of depression in Parkinson disease (PD). METHODS: A total of 115 subjects with PD were enrolled at 20 sites. Subjects were randomized to receive an SSRI (paroxetine; n = 42), an SNRI (venlafaxine extended release [XR]; n = 34), or placebo (n = 39). Subjects met DSM-IV criteria for a depressive disorder, or operationally defined subsyndromal depression, and scored >12 on the first 17 items of the Hamilton Rating Scale for Depression (HAM-D). Subjects were followed for 12 weeks (6-week dosage adjustment, 6-week maintenance). Maximum daily dosages were 40 mg for paroxetine and 225 mg for venlafaxine XR. The primary outcome measure was change in the HAM-D score from baseline to week 12. RESULTS: Treatment effects (relative to placebo), expressed as mean 12-week reductions in HAM-D score, were 6.2 points (97.5% confidence interval [CI] 2.2 to 10.3, p = 0.0007) in the paroxetine group and 4.2 points (97.5% CI 0.1 to 8.4, p = 0.02) in the venlafaxine XR group. No treatment effects were seen on motor function. CONCLUSIONS: Both paroxetine and venlafaxine XR significantly improved depression in subjects with PD. Both medications were generally safe and well tolerated and did not worsen motor function. CLASSIFICATION OF EVIDENCE: This study provides Class I evidence that paroxetine and venlafaxine XR are effective in treating depression in patients with PD