Research Scientist – Rare Disease

Research Scientist – Rare Disease

At Sage Bionetworks, we believe that we can learn more by learning from each other. By improving the way scientists collaborate, we help to make science more effective. We partner with researchers, patients, and healthcare innovators to drive collaborative data-driven science to improve health. Making science more open, collaborative, and inclusive ultimately advances biomedicine.

We are recruiting a Scientist to support our open science initiatives in the area of Neurofibromatosis (NF) research. We are a non-profit research organization that seeks to develop predictors of disease and accelerate health research through the creation of open systems, incentives, and standards. We create strategies and platforms that empower researchers to share and interpret data on a colossal scale, crowdsource tests for new hypotheses, and contribute to knowledge through community challenges. At the base of all of these efforts is the need to create globally coherent biological data sets that are Findable, Accessible, Interoperable, and Re-usable.  

We are seeking someone to join our efforts to collate all research in NF across a number of funding agencies including the Children’s Tumor Foundation (CTF), the Neurofibromatosis Therapeutic Acceleration Program (NTAP), and the National Cancer Institute (NCI). This work will culminate in a single scientific resource that will serve as the foundation for the larger NF community of researchers.

What you’ll be doing:

  • Leading a team of scientists from collaborating international biomedical research labs to:
    • identify/develop standards and protocols for storing, describing, and sharing heterogeneous data (including clinical, genomic, and imaging datasets) and tools
    • respond to requests for data and programmatic support, generate reports, and provide training
  • Analyzing varied datasets including RNA-Seq, WGS, high-throughput drug screening, and other types support the scientists in NF consortia to support their research
  • Using computational approaches to expand re-use of NF-related datasets such as:
    • Predicting drug response in cell culture and patients from genomic and transcriptomic data
    • Network-based integration of diverse data to identify pathways altered in disease
    • Standardizing analysis tools into formal pipelines for broader use by the community

We’d love to hear from you if you have:

  • A PhD in biology, bioinformatics or related field with experience working in computational biology research (required)
  • Experience with R and/or Python programming (required)
  • Experience processing and analyzing genomic data including hands-on implementation of DNA alignment, RNA quantitation and variant calling tools (required)
  • Familiarity with collaborative development and version control systems (e.g., git) (required)
  • Experience with database backends and cloud computing
  • Expertise with bioinformatics pipelines and workflows
  • Expertise in cancer biology, RAS signaling, or NF
  • Experience working as a part of highly collaborative multi-institution research projects

Apply Here. 


Current Positions

Computational Oncology

The Computational Biology group focuses on developing integrative probabilistic models for prediction of disease phenotypes and validating of hypotheses generated by novel methodologies. Currently opportunities include: positions in Oncology focused on conducting original research in analyzing large-scale high dimensional genomics data to develop predictive models of cancer phenotypes. Positions in collaboration with the recently merged Sage/DREAM effort, focused on designing and implementing crowd-sourced collaborative challenges around cancer phenotype prediction problems. Positions in stem cell bioinformatics with a focus on development of the data and analysis bioinformatics portal for the Progenitor Cell Biology Consortium, as well as research projects on modeling molecular mechanisms underlying stem cell differentiation.

Digital Health

Sage Bionetworks’ digital health program is designed to improve disease characterization through the use of sensor-based technologies and bi-directional feedback to improve health monitoring and provide quantitative metrics to assess disease impact on health and on quality of life. We maximize the insights gained from these efforts by providing them through Synapse, a collaborative compute platform. Our mHealth team includes expertise in software engineering (both iOS and Android), clinical study design and development, data governance and data analysis. We are actively involved in projects across a range of disease areas and within the Precision Medicine Initiative.

Neurodegenerative Research

An overarching goal of the Neurodegenerative Research (NDR) group is to improve understanding of the molecular mechanisms of neurodegeneration via computational analyses of high-dimensional genomic data-sets. Our group leads analyses of such data in consortia focused on Alzheimer’s Disease (AD) and related neurodegenerative disorders, including AMP-AD and MODEL-AD. We also work across disciplines to develop technologies that make these analyses available to a wide audience of researchers. Most notably, we recently celebrated the launch of Agora, an interactive, web-based explorer that provides access to research and analyses of nascent AD drug targets produced in conjunction with the NIH-led Accelerating Medicines Partnership.

Systems Biology

The Systems Biology research group at Sage Bionetworks is working to understand the underlying mechanisms causal to common disease. We use large-scale genomic analysis to identify disease subclasses, generate diagnostic and prognostic biomarkers, and to identify pathophysiology causal to disease in collaboration with academic and industry partners. Our current portfolio is focused on neurobiology, spanning both neurodegenerative and neuropsychiatric disorders, and includes projects in other disease areas including immunology, metabolic disease and craniofacial deformation.

Technology Platforms & Services

We’re working on the tools and platforms required to gather, share and use biomedical data in novel ways. These are targeted both at the research community, as well as organizations and individuals who are involved in providing data and being involved in the research process. They range from the technology platforms Synapse and BRIDGE, through novel methods of addressing governance issues around the distribution of human data such as E-Consent, to the ability to run Challenges to solve data-driven questions through our partnership with DREAM.