ABOUT THIS EPISODE
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.researchgate.net/profile/Mayla-Boguslav
Melissa Haendel:
:https://www.linkedin.com/in/melissa-haendel-bb97232/
Monarch Initiatives: https://monarchinitiative.org/community/get-involved
Ehlers-Danlos Syndrome (EDS). 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
Fourth Wing. Yarros R. 2023. https://rebeccayarros.com/ ; https://en.wikipedia.org/wiki/Fourth_Wing
Rare disease definitions vary across the world. Wang CM. 2024. 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/
Diagnosis codes: (International Classification of Disease (ICD) Codes, 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://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
IMO Health, 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/
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
How Ontologies Facilitate Science. National Academies of Science; Beatty AS, Kaplan RM, editors. 2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK584333/
Christopher G. Chute, Johns Hopkins University, https://publichealth.jhu.edu/faculty/3157/christopher-g-chute
American Medical Informatics Association, https://amia.org/
Chasm of semantic despair , McMurry J, Haendel M, 2017, 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
Matt Might discussing how Mondo helped save his son’s life. 2024. 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
The National COVID Cohort Collaborative (N3C): Rationale, design, infrastructure, and deployment, Haendel MA et al. 2020. 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/
Trouble at the lab. 2013. 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/
NIH Policy: Enhancing Reproducibility through Rigor and Transparency. 2024. 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
Producer:
Joshua Mendel
Questions, comments?
theignoranceinstitute@gmail.com
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Curious by Ron Gelinas Chill Beats
