SciBite curation jamboree for Sanfilippo syndrome on Rare Disease Day

SciBite / News / SciBite curation jamboree for Sanfilippo syndrome on Rare Disease Day

On Rare Disease Day (28 February 2025), our curators Paola Roncaglia and Anneli Karlsson led a group effort on Sanfilippo syndrome, a rare genetic disease within the broader family of lysosomal storage disorders. Our colleagues mined literature and resources looking for relevant entities to add to SciBite VOCabs (the internal ontologies that power SciBite tools). The outcome was ~200 suggested new terms and synonyms in several areas, including diseases, drugs, procedures, symptoms, therapies and more.

The screenshot below uses TERMite, our Named Entity Recognition (NER) engine, to show examples of new terms and synonyms. The summary lists the newly suggested additions, while the TERMite hits show the current VOCab coverage. Addition of “intrathecal drug delivery device” and “IT delivery device” will improve granularity and specificity with respect to “intrathecal” (which may refer more broadly to a process occurring within the spinal theca, rather than to a therapy administration route). The addition of “Pompe lysosomal disease” as a synonym of “Pompe disease” will increase text recognition and, ultimately, knowledge discovery. Lastly, “molecular tweezer” can be added as a new entity.

Click on image to enlarge

Additions to SciBite VOCabs will feed into TERMite, Workbench, SciBite Search and SciBite Chat, making the improvements available to our clients, and allowing users to retrieve more comprehensive data about the disease, ultimately aiding in research and discovery. As they review the suggestions, our Ontology Team will continue to feed useful comments to public ontologies.

See also this recent SciBite post on how semantic resources may power rare disease target identification.

Read more about SciBite’s other curation jamboree for World Menopause Day and Men’s Health Awareness Month.

Paola Roncaglia

Scientific Curation Consultant

Paola Roncaglia is a skilled bioinformatician and biomedical ontologist based in Trieste, Italy. With over 20 years of experience, she specializes in semantic enrichment and analysis of large-scale biological data. Currently a Scientific Curation Consultant at SciBite, Paola previously worked as a Gene Ontology Developer at the European Bioinformatics Institute. She holds a Ph.D. in Biophysics and Neurobiology and has made significant contributions to the integration of biological data, resulting in numerous impactful publications.

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