Research Interests
Key words: Rare Disease, Real World Data, Ontologies, Semantics, Precision Medicine
Translational science breaks down traditional silos between scientific disciplines, empowering research innovation and implementation in biomedicine. The Translational and Integrative Sciences Laboratory (TISLab) applies semantic engineering technologies to these varied disciplines to understand the relationship between phenotypes, genetic endowment, and the environment. We aim to accelerate progress and amplify discovery in areas such as rare diseases, long-Covid, Down Syndrome, cancer, and for societal and public health issues such as pandemic response and climate change. TISLab builds global standards to aid communities in advancing their own analytics and is an invested partner in open and team science with diverse contributors.
Mentor Training:
Publications
Melissa Haendel in UNC Genetics News

October 2, 2026
Department of Genetics Publications for August 2026
Department of Genetics faculty, postdocs, students and collaborators published 32 papers in August 2026.

September 1, 2026
UNC Awarded Up to $35 Million to Lead Landmark Initiative to Build World’s Largest Data Resource for Rare Disease AI
This data resource will provide physicians and researchers with new capabilities to identify patterns, support clinical decisions, and accelerate research aimed at transforming rare disease diagnosis and care. Credit: Julie McMurry CHAPEL HILL, N.C. – August 31, 2026 – More than 10,000 rare diseases affect an estimated 350 million people worldwide, including as many as one …

August 24, 2026
Department of Genetics Publications for July 2026
Department of Genetics faculty, postdocs, students and collaborators published 21 papers in July 2026.

July 24, 2026
Haendel Secures R24 Grant Focused on New Approach Methodologies
Dr. Melissa Haendel (Sarah Graham Kenan Distinguished Professor, Genetics) was awarded a new R24 grant from the NIH Office of the Director for her project titled “An AI-powered informatics resource for accelerating New Approach Methodologies research”.

May 19, 2026
Berg and Haendel Awarded New U01 Grant from NHGRI
Dr. Jonathan Berg (Bryson Distinguished Professor, Genetics and Medicine) and Dr. Melissa Haendel (Sarah Graham Kenan Distinguished Professor, Genetics) are the co-PIs of a new U01 grant from the National Human Genome Research Institute (NHGRI) for a project titled “Southeastern Genomic Medicine eConsult Network (SeGMeNt)”.

May 12, 2026
Department of Genetics Publications for March 2026
Department of Genetics faculty, postdocs, students and collaborators published 35 papers in March 2026.

March 17, 2026
Department of Genetics Publications for February 2026
Department of Genetics faculty, postdocs, students and collaborators published 26 papers in February 2026.

March 6, 2026
Haendel Publishes Health Data Policy Paper in Science
Dr. Melissa Haendel (Distinguished Professor, Genetics) is first author on a newly published paper in Science titled “Governing real-world health data as a public utility”.

February 27, 2026
UNC Health Launches Revolutionary Coding Standard to Transform Rare Disease Diagnosis Nationwide
A geneticist at the UNC School of Medicine has coordinated the development of Mondo, the world’s first standardized rare disease coding tool. Mondo is designed to streamline the diagnosis and treatment planning for millions of patients with rare diseases internationally.

February 20, 2026
Department of Genetics Publications for December 2025
Department of Genetics faculty, postdocs, students and collaborators published 37 papers in December 2025.