Project description:The development of precision medicine strategies requires prior knowledge of the genetic background of the target population. However, despite the availability of data from admixed Americans within large reference population databases, we cannot use these data as a surrogate for that of the Brazilian population. This lack of transferability is mainly due to differences between ancestry proportions of Brazilian and other admixed American populations. To address the issue, a coalition of research centres created the Brazilian Initiative on Precision Medicine (BIPMed), an initiative of five Research Innovation and Dissemination Centers (RIDCs) supported by FAPESP.

2020-08-22 | GSE156652 | GEO

The Brazilian Initiative on Precision Medicine (BIPMed)

Project description:The Brazilian Initiative on Precision Medicine (BIPMed)

| PRJNA658602 | ENA

Comparing gene expression across primary human airway models for cystic fibrosis precision medicine

Project description:Rationale:Cultured human bronchial epithelia (HBE) are the gold standard model for assessing the efficacy of small molecule therapies in cystic fibrosis (CF). However, these cells are difficult to access, especially in young children. Human nasal epithelia (HNE) are used as a surrogate model although it is unknown whether HNE recapitulate the gene expression properties of HBE Objective: To investigate the similarities and differences in gene expression genome-wide between HBE and HNE with a focus on CF lung disease modifier genes. Methods: RNA-sequencing was conducted on paired cultured and naïve HNE and HBE (n=71 samples) collected from 21 patients with CF who underwent lung transplantation. Gene expression was first compared across cultured and naïve samples to assess the impact of the culturing process, then compared between cultured HNE and HBE. Co-expression relationships of CF modifier genes were compared between cultured HNE and HBE. Results: The culturing process had little impact on the expression level of CF lung disease modifier genes. These genes also showed significant equivalent expression between cultured HNE and HBE. Their co-expression relationships in cultured HNE and HBE overlapped significantly, suggesting the corresponding biological processes are consistent across the two tissues. Conclusions: CF lung disease modifier genes have similar expression profiles across cultured HNE and HBE. This supports the use of HNE as a surrogate airway model to investigate CF lung disease, modifier genes and enable investigation of CF precision medicine.

2021-11-15 | GSE172232 | GEO

RNA-Seq of retina and RPE/choroid tissues from wild type, Abca4 knockout and Abca4 L541P;A1038V knockin mice

Project description:We report RNA-Seq analysis of the transcriptome of retinas and RPE/choroids from Abca4 knockout, Abca4 L541P;A1038V knockin and control wild type mice in order to better understand changes in gene regulation that could lead to retinal pathology in mice with ABCA4 deficiency/defect. Retinal and RPE/choroidal mRNA profiles of 30-day-old wild type (WT), Abca4-/- and Abca4L541P;A1038V/L541P;A1038V mice were generated by RNA-Seq, using Illumina Hiseq 2500

2015-04-07 | E-GEOD-63772 | biostudies-arrayexpress

Tissue-specific modifier alleles determine Mertk loss-of-function traits

Project description:Tissue-specific modifier alleles determine Mertk loss-of-function traits

| PRJNA843677 | ENA

RNA-Seq of retina and RPE/choroid tissues from wild type, Abca4 knockout and Abca4 L541P;A1038V knockin mice

2015-04-07 | GSE63772 | GEO

Functional precision medicine identifies new therapeutic candidates for medulloblastoma

Project description:Functional precision medicine identifies new therapeutic candidates for medulloblastoma

| PRJNA635569 | ENA