Biomedical Informatics Applications in Rare Diseases
Virtual Workshop
December 9-12, 2021
Virtual Workshop
December 9-12, 2021
A rare disease is defined in the US as those diseases affecting less than 200,000 people. It is estimated that 400 million people globally are affected by rare diseases. Most rare diseases have a genetic etiology, but it takes an average of 5 years for rare disease patients to receive an accurate diagnosis. Moreover, nearly 95% of rare diseases lack an FDA-approved treatment. 30% of children with a rare disease are not expected to see their fifth birthday because of diagnostic delay and lack of effective therapeutic interventions. Ever-increasing amounts of data collected and managed for genetics and biomedical evidence present new opportunities for breakthroughs to improve diagnosis and treatments in rare diseases. Advanced biomedical informatics approaches hold great promise to support diagnosis, drug discovery, and clinical trials. The ability of computational technologies to identify novel patterns in data, particularly data from different sources (e.g., multi-omics, patient registries, and so on), can be used to overcome current challenges (e.g., poor diagnostic rates, lack of treatment standards, misunderstood etiology and so on). Innovations in science, technology and the use of big data and AI analytics are enabling great leaps forward with rare disease.
In this workshop, we would like to present and discuss innovative biomedical informatics applications in rare diseases and provide a communication platform to exchange ideas, establish collaborations and discuss challenges in RD research.
The topics include, but are not limited to:
Rare disease relevant biomedical data management.
o Data curation
o Data normalization
o Data harmonization
o Data repository and sharing
Rare disease relevant data retrieval from various types of free text, including EHR, publications.
o Information retrieval
o Information extraction
Chemical/Clinical informatics in rare disease.
o Orphan drug discovery
o Drug repurposing
o Clinical decision support applications for rare diseases
Bioinformatics in rare diseases.
o Analysis of high-throughput data in rare diseases research
o Integration of multi-omics data in rare diseases
Important dates:
Oct 10, 2021: Due date for full workshop paper submission
Nov 1, 2021: Notification of paper acceptance to authors
Nov. 21, 2021: Camera-ready of accepted papers
Dec 9-12, 2021: Workshop
Submission:
We call for original and unpublished research contributions to the workshop
We accept two types of submission, through the online submission system (you can download the format instruction here (https://www.ieee.org/conferences/publishing/templates.html ). Electronic submissions in PDF format are required.
Full paper (6 - 8 pages IEEE 2-column format)
Short paper (2 - 4 pages IEEE 2-column format)
Online submission system is at https://wi-lab.com/cyberchair/2021/bibm21/scripts/ws_submit.php, (please be sure to select our workshop listed as "14. Biomedical Informatics Applications in Rare Diseases" for submission)
The accepted papers will be invited for extension to a special issue with Frontiers in Artificial Intelligence
Workshop organizer:
Qian Zhu, PhD, National Center for Advancing Translational Science (NCATS) /NIH
Yanji Xu, PhD, National Center for Advancing Translational Science (NCATS) /NIH
Program Committee:
George Bebis, PhD, University of Nevada at Reno
Youping Deng, PhD, University of Hawaii
Karamarie Fecho, PhD, University of North Carolina at Chapel Hill
Jennifer Hadlock, MD, Institute for Systems Biology
Ewy Mathé, PhD, National Center for Advancing Translational Science (NCATS) /NIH
Fitzroy Nembhard, PhD, Florida Institute of Technology
Dac-Trung Nguyen, PhD, National Center for Advancing Translational Science (NCATS) /NIH
Iyanuoluwa Odebode, PhD, Ellumen, Inc.
Feichen Shen, PhD, Bristol Myers Squibb
Eric Sid, MD, National Center for Advancing Translational Science (NCATS) /NIH
Richard Tillett, PhD, University of Nevada at Las Vegas