Axle Informatics

Research Associate - Rare Diseases Data Science

Job Locations US-MD-Rockville
Posted Date 3 weeks ago(4/15/2021 5:00 PM)
ID
2021-1901
# of Openings
4

Overview

Axle Informatics is a bioinformatics and information technology company that offers innovative computer services, informatics, and enterprise solutions to research centers and healthcare organizations around the globe. With experts in software engineering, bioinformatics and program management, we focus on developing and applying technology tools and techniques to empower decision-making and accelerate the discovery in translational research. We work with some of the top research organizations and facilities in the country including multiple institutes at the National Institutes of health (NIH).

 

Axle is seeking a highly ambitious, adaptable, structured, and detail oriented Research Associate - Rare Diseases Data Science to join our rare disease informatics team at Bethesda, MD.

 

Currently, there are about 7,000-10,000 known rare diseases that affect people in the US, yet only a few hundred (less than 5%) have a treatment and even fewer a cure.  A rare disease is defined in US law (Orphan Drug Act (ODA) of 1983,[1] Rare Diseases Act (RDA) of 2002[2]) as a disease or condition that affects fewer than 200,000 people in the US. Most rare diseases affect far fewer patients than this, with most rare diseases affecting only a few hundreds to thousands of patients. Collectively, however, rare diseases are not rare at all, and in total are estimated to affect as many as 25-30 million patients in the US, making rare diseases a large public health consideration. 

 

The ORDR’s GARD information center was established in 2003 under a Congressional Mandate (RDA 2002), and is a federally funded program that has an essential role in the dissemination of public health information to rare disease researchers, clinicians, and patients that is freely accessible to the public.  However, obtaining accurate, comprehensive, timely, and objective information on rare diseases is often difficult, given the large number of rare diseases, rapidly evolving science (especially related to genomics), diverse data sources, and inconsistent nomenclature and ontologies for rare disease classification, among other issues. Recently, GARD has been undergoing a re-envisioning and re-design based on a Neo4j knowledge graph database that integrates rare disease data from multiple sources to keep the information on ~6,000 different rare diseases in GARD up-to-date and useful to the patient and clinical research communities. Research tools, artificial intelligent models, data visualization and informatics infrastructure based on the knowledge graph database will be developed to support rare diseases research and clinical activities, and to answer rare disease research questions likely to inform rare disease research prioritization. 

 

[1] Orphan Drug Act of 1983, amended for prevalence 1984. Pub.L. 97-414

[2] Rare Diseases Act of 2002, Pub.L. 107-280

Responsibilities

  • Work collaboratively with data scientists and application developers to develop informatics infrastructure and support for rare diseases research.
  • Query the existing GARD knowledge graph database for rare diseases data, such as disease classification/ontologies coding (e.g., ICD 10), genetics, clinical characteristics/phenotypic information, diagnosis, and treatment, among others.
  • Collect, quality check, process and integrate data from publicly available data and information resources.
  • Develop a Neo4j database for data management.
  • Develop APIs for user access to the existing knowledge graph database.
  • Apply machine learning and/or natural language processing approaches for data mapping and knowledge extraction.

Qualifications

  • Associate or Bachelor’s degree or enrolled in an accredited Associate or Bachelor’s degree program n Computer Science, Data Science, Bioinformatics, Information Systems or a related field
  • Good understanding of principles and concepts in database management and software development.
  • Familiarity with Linux/Unix operating system
  • Familiarity with one or more programing languages, such as Python, Perl, Java etc.
  • Experience in database management, web application and/or API development is preferred
  • Good understanding of principles and concepts of data mining
  • Experience in machine learning, deep learning and/or natural language processing is highly preferred
  • Experience in non-relational database, such as Neo4j, is highly preferred
  • Experience in containers (e.g. Docker, Singularity), version control (e.g. GitHub) and workflow management (e.g. Snakemake) is highly preferred

Benefits 

  • 100% Medical, Dental & Vision premium coverage for Employees  
  • Paid Time Off (Including Holidays) 
  • Employee Referral Bonus  
  • 401K Match 
  • Tuition reimbursement and professional development opportunities 
  • Flexible Spending Accounts:
    • Healthcare (FSA)
    • Parking Reimbursement Account (PRK)
    • Dependent Care Assistant Program (DCAP)
    • Transportation Reimbursement Account (TRN)

The diversity of Axle’s employees is a tremendous asset. We are firmly committed to providing equal opportunity in all aspects of employment and will not tolerate any illegal discrimination or harassment based age, race, gender, religion, national origin, disability, marital status, covered veteran status, sexual orientation, status with respect to public assistance, and other characteristics protected under state, federal, or local law and to deter those who aid, abet, or induce discrimination or coerce others to discriminate.

 

Accessibility: If you need an accommodation as part of the employment process please contact: 

Email: careers
@axleinfo.com

 

Disclaimer: The above description is meant to illustrate the general nature of work and level of effort being performed by individual’s assigned to this position or job description. This is not restricted as a complete list of all skills, responsibilities, duties, and/or assignments required. Individuals may be required to perform duties outside of their position, job description or responsibilities as needed.

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