NHGRI, released two funding opportunities relevant to laboratory and clinical research to translate genomic and genetic research into understanding and treating human diseases.
Investigator-Initiated Genomic Medicine Research
PAR-18-735 & PAR-18-736
This supports research opportunities designed to advance the understanding and implementation of genomic information about an individual to inform clinical care, and the health outcomes of that clinical use.
Novel Approaches for Relating Genetic Variation to Function & Disease
PA-18-867 & PA-18-868
Genome-wide association studies have found many variants that are statistically associated with disease and other traits. In addition, clinical genomic sequencing studies have identified many variants in healthy and diseased individuals, where the pathogenicity of such variants is often unknown, leading to their classification as variants of uncertain significance (VUS). This program aims to support the development of novel and generalizable approaches to study how genetic variants lead to differences in function and to study how such functional differences affect human health and disease processes, or how this knowledge can be used clinically.
NIGMS is recruiting for an accomplished scientist with experience in the pharmacological sciences to join the Pharmacological and Physiological Sciences (PPS) Branch of the Division of Pharmacology, Physiology, and Biological Chemistry. The successful applicant will have responsibility for scientific and administrative management of a portfolio of grants, both research and training, in the Division.
Interested? Please learn more: https://loop.nigms.nih.gov/2018/09/wanted-program-director-pharmacological-and-physiological-sciences-branch/. The application process is not difficult (but it does end on Sept. 26), and Alison Cole and Rochelle Long want to know in advance if you will be applying. It’s a good group to work with on interesting science. Don’t hesitate to contact them for more information.
PharmVar is pleased to announce that 8 more genes have been added to the interactive database. All genes in the database are highlighted with the PharmVar logo.
Next generation sequencing technologies have been around since the last decade, however, its used in pharmacogenetic studies are limited and in general include fewer samples (Weeke et al. 2014, Yang et al. 2018, Chua et al., 2015, Li et al. 2018). Recently, the NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium and investigators from USA and other countries performed the first and the largest whole-genome sequencing pharmacogenetic study from 1,441 children with asthma from the tails of the bronchodilator drug response distribution (Mak et al. 2018). The aim of the study was to identify common and rare variants associated with albuterol, a bronchodilator, response in ethnically diverse children. A genomewide significant locus and several suggestive loci near to genes related to lung function and immunity were identified. This first whole-genome pharmacogenetics study using the tails of the drug response is a promising approach and hopefully other kinds of pharmacogenomics studies using whole-genome or whole–exome sequencing will become more widely used in future.
Based on scientific merits and feasibility of the project, two projects have been selected for the pilot gene editing service described below:
PharmVar is delighted to announce a new feature that just went live! Variants of genes in the PharmVar database can now be downloaded in sequence (FASTA and VCF) and table (TSV) formats. Options include to the download variants of interest, all variants of a gene or the entire PharmVar database.
Check out the link “Additional Data Download Information” on the gene page for more information.
There are currently three genes in the database, CYPs 2C9, 2C19 and 2D6 – additional genes will be transitioned soon.
The African American Pharmacogenomic Consortium Network Transdisciplinary Collaborative Center
(ACCOuNT TCC) was created to:
The University of Florida seeks doctorally prepared clinicians and researchers who are poised to lead the next generation of scientists into an era where genomic medicine approaches are a routine part of patient care. The Program for Applied Research and Development in Genomic Medicine, or PARADIGM, is funded by the National Institutes of Health’s National Human Genomic Research Institute and will prepare trainees to be leaders in genomic medicine research and implementation. Trainees will receive didactic training tailored to their needs, extensive mentoring from world-renowned scientists, valuable clinical exposure in multiple areas of genomic medicine and stimulating career development opportunities in a robust, interdisciplinary research environment at UF.
Doctorally prepared clinicians and researchers are encouraged to apply by April 15, 2018.
To capitalize on the opportunities presented by advances in data science, the National Institutes of Health (NIH) is developing a Strategic Plan for Data Science. This plan describes NIH’s overarching goals, strategic objectives, and implementation tactics for promoting the modernization of the NIH-funded biomedical data science ecosystem. As part of the planning process, NIH has published a draft of the strategic plan, along with a Request for Information (RFI) to seek input from stakeholders, including members of the scientific community, academic institutions, the private sector, health professionals, professional societies, advocacy groups, patient communities, as well as other interested members of the public. Please submit responses using the link below by April 2, 2018.
The deadline to nominate a colleague for the inaugural FNIH Trailblazer Prize for Clinician-Scientists (Trailblazer Prize) is March 30, 2018 at 1pm EDT. This annual prize and $10,000 honorarium presented by the FNIH recognizes the outstanding contributions of early career clinician-scientists in the United States whose work has the potential to or has led to innovations in patient care.
According to the American Medical Association, the percentage of physicians engaged in research and teaching has decreased in past decades. This concerning statistic means that there are fewer clinician-scientists that play the vital role of understanding basic biology and scientific discovery while considering the potential benefits to patients. Through the Trailblazer Prize, the FNIH celebrates the transformational work of clinician-scientists, whose research translates basic scientific observations into new paradigm-shifting approaches for diagnosing, preventing, treating or curing disease and disability.
The Hub team