Resources for Healthcare Providers

“Wherever the art of medicine is loved, there is also a love of humanity.” ~Hippocrates

Rare Disease

Rare Disease Statistics

According to the FDA, more than 30 million people in the US are affected by rare disease or 1 in 10. According to the CDC, coronary artery disease affects 1 in 20.

Rare Disease Characteristics

Elliott, E. Zurynski, Y. (2015). Rare diseases are a ‘common’ problem for clinicians. Australian Family Physician. 44. (9):630-3. PMID: 26488039. https://www.researchgate.net/publication/282949083_Rare_diseases_are_a_’common’_problem_for_clinicians

Rare Disease and Psychological Misdiagnosis

Nunn, R. (2017). “It’s not all in my head!” – The complex relationship between rare diseases and mental health problems. Orphanet Journal of Rare Diseases, 12(29). doi:10.1186/s13023-017-0591-7 https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0591-7

Rare Patient Trauma in HealthCare Setting

Chrivoli, J. A., & Lester, N. (2019). Common themes and characteristics of trauma in the healthcare experiences of patients with rare disease: A literature analysis https://doi.org/10.13140/RG.2.2.27558.47684

Mitochondrial Dysfunction (New Research Explains Unusual Patient Presentations)

Shirvani, A., Shirvani, P., Jonah, U., Moore, B. E., & Holick, M. F. (2025). Suspected Mitochondrial Dysfunction and Complex Pathophysiology in Fatal Hypermobile Ehlers–Danlos Syndrome: Insights from a Case Report and Post-Mortem Findings. Biomedicines, 13(2), 469. https://doi.org/10.3390/biomedicines13020469

Shirvani P, Shirvani A, Holick MF. (2024). Decoding the Genetic Basis of Mast Cell Hypersensitivity and Infection Risk in Hypermobile Ehlers-Danlos Syndrome. Curr Issues Mol Biol.46(10):11613-11629. https://pubmed.ncbi.nlm.nih.gov/39451569/doi: 10.3390/cimb46100689. PMID: 39451569; PMCID: PMC11506785.

Schaefer PM, Scherer Alves L, Lvova M, Huang J, Rathi K, Janssen K, Butic A, Yardeni T, Morrow R, Lott M, Murdock D, Song A, Keller K, Garcia BA, Francomano CA, Wallace DC. (2022). Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation. Proc Natl Acad Sci U S A. 119(45):e2212417119. doi: 10.1073/pnas.2212417119. Epub 2022 Nov 2. PMID: 36322731; PMCID: PMC9659340. https://www.pnas.org/doi/full/10.1073/pnas.2212417119

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