Citations

References 

  1. BBC News. ‘Nightmare’ rare disease diagnosis delays. Published January 6, 2020. Accessed April 4, 2025. https://www.bbc.com/news/uk-england-bristol-51006604

  2. UC Berkeley. Drug development process intensive seminar. Accessed April 4, 2025. https://voices.berkeley.edu/sciences-mathematics-and-biotechnology/drug-development-process-intensive-seminar

  3. Mei L, Wu X, Wang Q, et al. Patient perspectives on gene therapy for rare diseases: a qualitative study. Front Med (Lausanne). 2023;10:10597899. doi:10.3389/fmed.2023.10597899

  4. IQVIA. How rare diseases add up: Making them a high public health priority. Accessed April 4, 2025. https://www.iqvia.com/blogs/2023/09/how-rare-diseases-add-up-making-them-a-high-public-health-priority

  5. Peterson LW, Artis D. Intestinal epithelial cells: regulators of barrier function and immune homeostasis. Nat Rev Immunol. 2014;14(3):141-153. doi:10.1038/nri3608

  6. Stanford University News. Gut-brain research sheds light on long COVID, Parkinson’s, anxiety. Published March 2025. Accessed April 4, 2025. https://news.stanford.edu/stories/2025/03/gut-brain-research-long-covid-parkinsons-anxiety

  7. Cleveland Clinic. What is my large intestine? Accessed April 4, 2025. https://my.clevelandclinic.org/health/body/22134-colon-large-intestine

  8. International Foundation for Gastrointestinal Disorders. Home. Accessed April 4, 2025. https://iffgd.org

  9. Genetic and Rare Diseases Information Center. Home. Accessed April 4, 2025. https://rarediseases.info.nih.gov

  10. Johns Hopkins Medicine. The brain-gut connection. Accessed April 4, 2025. https://www.hopkinsmedicine.org/health/wellness-and-prevention/the-brain-gut-connection

  11. Harvard Health Publishing. The gut-brain connection. Accessed April 4, 2025. https://www.health.harvard.edu/newsletter_article/the-gut-brain-connection

  12. National Institutes of Health. Gut microbiota and its role in vitamin synthesis. Accessed April 4, 2025. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5622781

  13. Cleveland Clinic. The link between gut health and neurological disorders. Accessed April 4, 2025. https://health.clevelandclinic.org/the-link-between-gut-health-and-neurological-disorders

  14. National Organization for Rare Disorders (NORD). Rare gastrointestinal diseases. Accessed April 4, 2025. https://rarediseases.org/rare-diseases-category/gastrointestinal-disorders

  15. RareDisease.net. Getting a rare disease diagnosis. Accessed April 4, 2025. https://raredisease.net/diagnosis

  16. American College of Allergy, Asthma & Immunology. Eosinophilic esophagitis (EoE). Accessed April 4, 2025. https://acaai.org/allergies/types/food-allergy/types-food-allergy/eosinophilic-esophagitis-eoe 

  17. EveryLife Foundation for Rare Diseases. Research and funding for rare diseases. Accessed April 4, 2025. https://everylifefoundation.org

  18. Cleveland Clinic. Intestinal pseudo-obstruction. Accessed April 4, 2025. https://my.clevelandclinic.org/health/diseases/17866-intestinal-pseudo-obstruction

  19. NIH Human Microbiome Project. NIH human microbiome project – home. Accessed April 5, 2025. https://hmpdacc.org

  20. Helander HF, Fändriks L. Surface area of the digestive tract—revisited. Scand J Gastroenterol. 2014;49(6):681-689. doi:10.3109/00365521.2014.898326

  21. Harvard T.H. Chan School of Public Health. The microbiome. Accessed April 4, 2025. https://www.hsph.harvard.edu/nutritionsource/microbiome

  22. Harvard Health Publishing. 5 simple ways to improve gut health. Accessed April 4, 2025. https://www.health.harvard.edu/staying-healthy/5-simple-ways-to-improve-gut-health

  23. Carabotti M, Scirocco A, Maselli MA, Severi C. The gut-brain axis: interactions between enteric microbiota, central and enteric nervous systems. Ann Gastroenterol. 2015;28(2):203-209. https://pmc.ncbi.nlm.nih.gov/articles/PMC6469458

  24. Clinical Trials Transformation Initiative. Clinical trials in rare disease: challenges and opportunities. Accessed April 4, 2025. https://www.ctti-clinicaltrials.org/projects/rare-diseases

  25. Pennsylvania Health Care Cost Containment Council (PHC4). Current events: challenges in rare disease research. Accessed April 4, 2025. https://www.phc4.org/news-and-press-releases/current-events-challenges-in-rare-disease-research

  26. Medium. Did you know… your stomach acid can digest your stomach itself! Accessed April 4, 2025. https://medium.com/did-you-know-short-fun-facts/did-you-know-your-stomach-acid-can-digest-your-stomach-itself-f0a1ce978747

  27. Cleveland Clinic. Why your small intestine is a big deal. Accessed April 4, 2025. https://my.clevelandclinic.org/health/body/22135-small-intestine

  28. EndPoints News. Gene therapy loses luster as investors eye quicker returns from weight-loss drugs. Accessed April 4, 2025. https://endpts.com/gene-therapy-loses-luster-as-investors-eye-quicker-returns-from-weight-loss-drugs

  29. Tzoulis C, Zetterberg H. Crossing the valley of death: lessons from rare disease drug development. Front Med (Lausanne). 2023;10:10471515. doi:10.3389/fmed.2023.10471515

  30. Kang HJ, Hwang JH, Lee SE, et al. Overcoming challenges in rare disease research: a practical guide. Orphanet J Rare Dis. 2014;9:98. doi:10.1186/1750-1172-9-98

  31. San Antonio Gastroenterology Associates. 3 rare gastrointestinal disorders you probably haven’t heard of. Accessed April 4, 2025. https://www.sagastro.com/3-rare-gastrointestinal-disorders-you-probably-havent-heard-of

  32. Health.com. Here’s why you’d need an ostomy bag—and what it’s like to live with one. Accessed April 4, 2025. https://www.health.com/ostomy-bag-8611678

  33. CreakyJoints. An honest reflection on my mental health struggles as someone with Crohn’s disease. Accessed April 4, 2025. https://creakyjoints.org/living-with-arthritis/crohns-disease-mental-health-struggles

  34. Canva. Home. Accessed April 5, 2025. https://www.canva.com

  35. Wix. Home. Accessed April 5, 2025. https://www.wix.com

  36. MedlinePlus. Talking with your doctor. U.S. National Library of Medicine. March 2, 2022. Accessed April 5, 2025. https://medlineplus.gov/ency/patientinstructions/000860.htm

  37. Healthline. The gut-brain connection: how it works and the role of nutrition. Accessed April 5, 2025. https://www.healthline.com/nutrition/gut-brain-connection

  38. Stamford Advocate. Her son has a rare genetic disorder, so this Connecticut mom is taking fight for funding to D.C. Accessed April 5, 2025. https://www.stamfordadvocate.com/connecticut/article/angelman-syndrome-medical-medicaid-funding-20220298.php

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  40. Family Medicine Austin. Gastrointestinal disorders: signs and symptoms. Family Medicine Austin. Published January 11, 2022. Accessed April 7, 2025. https://familymedicineaustin.com/gastrointestinal-disorders-signs-and-symptoms/

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