Rare Disease Informatics Scientific Interest Group

The goal of the Rare Disease Informatics (RDI) scientific interest group (SIG) is to engage investigators and analysts who are interested in applying computational techniques for biomedical data analysis to support rare disease research. Potentially, collaboration and knowledge-sharing will be promoted among biomedical informaticians and rare disease experts across the NIH.

The RDI SIG is a trans-institute group whose investigators apply informatics approach to curate, harmonize, standardize, and analyze biomedical data obtained from a variety of resources (i.e., gene sequences, bioassays, electronic health records and other forms of real-world data, scientific publications) for clinical, biological, and public health research applications. The group meets to discuss the challenges/emerging technology of integrating computational techniques into analysis workflows and new developments in rare disease informatics applications. The group meets monthly to discuss recent journal articles, relevant projects, and initiating collaborations. Guest speakers will be invited periodically.

For more information, please contact Dr. Qian Zhu, qian.zhu@nih.gov.

Chairs:
Qian Zhu, PhD, NCATS
Christine Cutillo, NCATS
Ainslie Tisdale, NCATS

Advisors:
William Gahl, PhD, NHGRI
David Adams, PhD, NHGRI

Mailing List

To join the Rare Disease Informatics Scientific Interest Group mailing list, please visit the Rare Disease Informatics Scientific Interest Group Listserv home page, then click the “Subscribe or Unsubscribe” link in the right sidebar.

Scientific Focus Areas

This page was last updated on Friday, February 10, 2023