How Do We Meaningfully Treat Rare Disease Patients? The Ignorance Podcast Episode 12 With Melissa Haendel
Join Mayla Boguslav as she interviews Melissa Haendel who is asking How do we meaningfully treat rare disease patients?
Mayla Boguslav:
@drmaylab.bsky.social
https://www.linkedin.com/in/mayla-boguslav-phd-30402239 [https://www.linkedin.com/in/mayla-boguslav-phd-30402239]
https://www.researchgate.net/profile/Mayla-Boguslav [https://www.researchgate.net/profile/Mayla-Boguslav]
Melissa Haendel:
:https://www.linkedin.com/in/melissa-haendel-bb97232/ [https://www.linkedin.com/in/melissa-haendel-bb97232/]
Monarch Initiatives: https://monarchinitiative.org/community/get-involved [https://monarchinitiative.org/community/get-involved]
Ehlers-Danlos Syndrome (EDS). https://www.ehlers-danlos.com/ [https://www.ehlers-danlos.com/]
Hypermobile EDS characterization: Understanding Comorbidities in Hypermobile Ehlers-Danlos Syndrome: Could a Viral Infection Unmask the Disorder? Pearson ML. 2026. https://doi.org/10.1101/2025.10.22.25338573 [https://doi.org/10.1101/2025.10.22.25338573]
Fourth Wing. Yarros R. 2023. https://rebeccayarros.com/ [https://rebeccayarros.com/] ; https://en.wikipedia.org/wiki/Fourth_Wing [https://en.wikipedia.org/wiki/Fourth_Wing]
Rare disease definitions vary across the world. Wang CM. 2024. https://pubmed.ncbi.nlm.nih.gov/39261914/ [https://pubmed.ncbi.nlm.nih.gov/39261914/]
The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems, Tisdale A, 2021, https://pubmed.ncbi.nlm.nih.gov/34674728/ [https://pubmed.ncbi.nlm.nih.gov/34674728/]
Diagnosis codes: (International Classification of Disease (ICD) Codes, https://www.who.int/standards/classifications/classification-of-diseases [https://www.who.int/standards/classifications/classification-of-diseases]
The Monarch Initiative's Mondo Disease Ontology (Mondo) has identified over 15,000 known rare diseases, https://mondo.monarchinitiative.org/pages/rare-disease/ [https://mondo.monarchinitiative.org/pages/rare-disease/] ; https://pmc.ncbi.nlm.nih.gov/articles/PMC7771654/ [https://pmc.ncbi.nlm.nih.gov/articles/PMC7771654/]
Mondo Ontology and its benefits: Mondo: integrating disease terminology across communities, Vasilevsky NA et al, 2025, https://doi.org/10.1093/genetics/iyaf215 [https://doi.org/10.1093/genetics/iyaf215]
IMO Health, https://www.imohealth.com/ [https://www.imohealth.com/] ; and Mondo 101: Your guide to clinical terminology for rare diseases, 2025, https://www.imohealth.com/resources/mondo-101-your-guide-to-clinical-terminology-for-rare-diseases/ [https://www.imohealth.com/resources/mondo-101-your-guide-to-clinical-terminology-for-rare-diseases/]
The science of team science: A review of the empirical evidence and research gaps on collaboration in science. Hall, KL et al. 2018. https://doi.org/10.1037/amp0000319 [https://doi.org/10.1037/amp0000319]
How Ontologies Facilitate Science. National Academies of Science; Beatty AS, Kaplan RM, editors. 2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK584333/ [https://www.ncbi.nlm.nih.gov/books/NBK584333/]
Christopher G. Chute, Johns Hopkins University, https://publichealth.jhu.edu/faculty/3157/christopher-g-chute [https://publichealth.jhu.edu/faculty/3157/christopher-g-chute]
American Medical Informatics Association, https://amia.org/ [https://amia.org/]
Chasm of semantic despair , McMurry J, Haendel M, 2017, https://doi.org/10.6084/m9.figshare.4876838 [https://doi.org/10.6084/m9.figshare.4876838]
Chasm of drug development: Surviving in the Valley of Death: Opportunities and Challenges in Translating Academic Drug Discoveries. Parrish MC et al. 2019. https://doi.org/10.1146/annurev-pharmtox-010818-021625 [https://doi.org/10.1146/annurev-pharmtox-010818-021625]
Matt Might discussing how Mondo helped save his son’s life. 2024. https://youtu.be/kYyP6My2tWA?si=2UlsrcuoV3Ua5nem [https://youtu.be/kYyP6My2tWA?si=2UlsrcuoV3Ua5nem]
The N3C governance ecosystem: A model socio-technical partnership for the future of collaborative analytics at scale. 2023. https://doi.org/10.1017/cts.2023.681 [https://doi.org/10.1017/cts.2023.681]
The National COVID Cohort Collaborative (N3C): Rationale, design, infrastructure, and deployment, Haendel MA et al. 2020. https://doi.org/10.1093/jamia/ocaa196 [https://doi.org/10.1093/jamia/ocaa196]
On the reproducibility of science: unique identification of research resources in the biomedical literature. Vasilevsky NA. 2013. https://pmc.ncbi.nlm.nih.gov/articles/PMC3771067/ [https://pmc.ncbi.nlm.nih.gov/articles/PMC3771067/]
Trouble at the lab. 2013. https://www.economist.com/briefing/2013/10/18/trouble-at-the-lab [https://www.economist.com/briefing/2013/10/18/trouble-at-the-lab]
NIH plans to enhance reproducibility. Collins F. 2014. https://pmc.ncbi.nlm.nih.gov/articles/PMC4058759/ [https://pmc.ncbi.nlm.nih.gov/articles/PMC4058759/]
NIH Policy: Enhancing Reproducibility through Rigor and Transparency. 2024. https://grants.nih.gov/policy-and-compliance/policy-topics/reproducibility [https://grants.nih.gov/policy-and-compliance/policy-topics/reproducibility]
Gene naming issues in excel: Scientists rename human genes to stop Microsoft Excel from misreading them as dates. 2020. https://www.theverge.com/2020/8/6/21355674/human-genes-rename-microsoft-excel-misreading-dates [https://www.theverge.com/2020/8/6/21355674/human-genes-rename-microsoft-excel-misreading-dates]
Producer:
Joshua Mendel
Questions, comments?
theignoranceinstitute@gmail.com [theignoranceinstitute@gmail.com]
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