FAQs

Frequently Asked Questions

1. What is a rare disease?

A rare disease is typically one that affects a small portion of the population, but there is no single, global definition. In the United States, an orphan (rare) disease is defined by a prevalence of fewer than 200,000 people—roughly 1 in every 1,500. The European Union classifies a disease as rare if it affects fewer than 1 in 2,000 people, while in Japan it is 1 in every 2,500. Given India’s large population, it is generally recommended that any condition affecting fewer than 1 in 10,000 be recognized as rare in the country.

2. How many people are affected by rare diseases?

  • Around 30 million Americans
  • About 29 million people in the European Union
  • Nearly 70 million people in India
  • Altogether, rare diseases are estimated to impact 6–8% of the global population.

3. How many rare diseases are known today?

There are roughly 7,000 recognized rare diseases worldwide.

4. How many rare diseases have drugs available?

  • 400 FDA-approved orphan drugs
  • 80 EMA-approved orphan drugs

5. What causes rare diseases?

Approximately 80% of rare diseases are genetic in origin, with many believed to result from single-gene (monogenic) mutations.

6. Can you provide examples of rare diseases?

Rare diseases may include certain types of cancers, autoimmune disorders, congenital malformations, and infectious conditions. Nearly half of all rare diseases appear in childhood, while the rest manifest later in life. Some examples include:

  • Hemangiomas
  • Hirschsprung disease
  • Gaucher’s disease
  • Cystic Fibrosis
  • Muscular dystrophies
  • Pompe disease

7. What problems do individuals with rare diseases face?

  1. Delayed or inaccurate diagnosis – Often taking 7 or more years; longer in countries like India.
  2. Limited treatment options – Pharma and biotech companies typically underinvest in rare disease research.
  3. Sparse research – Little or no research on many rare conditions.
  4. Few specialists – Finding an experienced doctor or treatment center is difficult.
  5. High costs – Existing therapies may be prohibitively expensive.
  6. Insurance hurdles – Reimbursement challenges with private insurance, Medicare, Medicaid.
  7. Limited access to support – Medical, social, or financial assistance is harder to obtain due to lack of awareness.
  8. Isolation – Patients can feel overlooked by the healthcare system.

8. What is Rare Disease Day?

Rare Disease Day is an annual, global event held on the last day of February to spotlight rare diseases as a public health issue.

9. When is Rare Disease Day?

It is observed each year on February 28 (or February 29 in leap years).

10. When was Rare Disease Day first celebrated?

The inaugural event took place in Europe in 2008, initiated by EURORDIS (European Rare Disease Organization). In 2009, EURORDIS partnered with NORD to introduce it in the United States.

11. What happens on Rare Disease Day?

Patients, families, healthcare providers, and researchers share personal experiences, host events, and raise awareness about living with a rare disease. Activities range from educational webinars to community fundraisers—both online and in-person.

12. Where is Rare Disease Day celebrated?

Worldwide. In 2013, it was recognized in over 60 countries. You can find information about global activities at www.rarediseaseday.org, U.S. events at www.rarediseaseday.us, and India-specific information via local websites or organizations.

13. How can I participate in Rare Disease Day?

Get involved by sharing stories, attending events, starting a local awareness campaign, or donating. Check the official websites (www.rarediseaseday.org or www.rarediseaseday.us) or local resources for event details.

14. What is the Rare Diseases India Foundation (RDIF)?

RDIF is a neutral, non-profit organization created by volunteers from diverse backgrounds in IT, bioinformatics, healthcare, genetics/genomics, biotechnology, and the nonprofit sector. RDIF’s mission is to serve as the collective voice for patients, families, and healthcare professionals dealing with rare diseases in India, pooling resources and expertise to improve diagnosis, treatment, and support systems.

15. What is the vision of RDIF?

RDIF envisions an India where rare diseases are diagnosed and treated just as effectively as common conditions like diabetes, breast cancer, or cardiovascular disease. The foundation strives to ensure that every Indian affected by a rare disease has equal access to timely diagnosis, treatment, and lifelong care.

16. Why was RDIF formed?

  1. High mortality/morbidity – Rare diseases can have severe outcomes in India, partly due to consanguineous marriages.
  2. Lack of legislation – India does not have an equivalent to the U.S. Orphan Drug Act, so RDIF advocates for policies offering government support and incentives for drug development and research.
  3. Opportunities for innovation – India’s scale and healthcare landscape present unique possibilities for cost-effective ways to diagnose and treat rare diseases.

17. What has RDIF achieved so far?

  • National Helpline – A hotline (+91 8892 555 000) assisting patients, caregivers, and medical professionals with rare-disease-related queries.
  • Awareness Campaigns – RDIF maintains an online presence, arranges campaigns, and conducts an annual rare disease conference.
  • Collaboration – Partnerships with both domestic and international organizations, including disease-specific advocacy groups, biotech firms, and industry bodies.
  • Medical Expertise – A network of over 25 prominent rare disease specialists across India.
  • Strategic Papers & Publications – RDIF has worked on white papers outlining strategies for tackling rare diseases in India and contributes to peer-reviewed academic journals.

18. What are RDIF’s planned activities going forward?

  • Sponsored Clinics – Free or subsidized clinics for selected rare diseases, led by national and international medical experts.
  • Patient Registry – A central database of rare disease patients, aiding clinical trial recruitment, specialized care, and research initiatives.
  • Biobank – A repository of patient biospecimens to further rare disease research in India.
  • Research Funding – Competitive grants supporting innovative studies; registry and biospecimens are shared with approved researchers.
  • Policy Advocacy – Lobbying for legislation similar to the Orphan Drug Act to promote research, diagnostics, and drug development.
  • Unified Network – Bringing India’s various disease-specific patient organizations under one umbrella for greater collective impact.

19. How can the Indian government support rare diseases?

  1. Special Healthcare Policy – Include rare diseases in mainstream health coverage with clear diagnostic, treatment, and supportive protocols.
  2. Orphan Drug Approval – Expedite the introduction of FDA/EMA-approved treatments for Indian patients.
  3. Dedicated Unit – Set up a government department under the health ministry focusing on rare diseases, with a robust budget.
  4. Regulatory Ease – Simplify compliance for clinical trials and expedite approvals for promising treatments.
  5. Tax Breaks – Offer incentives to organizations investing in rare disease R&D.
  6. National Surveys – Incorporate rare disease data into large-scale health surveys for better policymaking.
  7. Medical Education – Increase rare disease coverage in medical curricula, preparing future doctors for early detection and specialized care.
  8. Encourage R&D – Legislation parallel to the Orphan Drug Act would stimulate novel diagnostics and therapies.

20. How are other countries supporting rare diseases?

  • United States – Led the way with the Orphan Drug Act (1983) and Rare Disease Act (2002). Nationwide surveys gauging stakeholder needs shaped regulatory reforms.
  • Global Efforts – Many developed nations have specific rare disease frameworks, granting incentives for research and accelerating drug approvals.

21. What key issues persist in human genetics?

Many healthcare professionals still believe genetic disorders are untreatable, resulting in delayed interventions. Additionally, consanguineous marriages in India increase the likelihood of hereditary conditions. While banning such marriages isn’t feasible, public awareness can help families make informed decisions, potentially reducing the incidence of severe genetic diseases.


22. Why is it important to foster a united rare disease community?

A unified community amplifies advocacy and resource-sharing efforts. When patients, families, medical professionals, and policy-makers collaborate, it becomes easier to raise awareness, secure funding, influence legislation, and ensure equitable access to treatments for those with rare diseases.

23. How can individuals or organizations collaborate with RDIF?

  • Volunteering – Offer your time or professional skills for events, patient outreach, or administrative support.
  • Donations – Financial contributions help RDIF run helplines, sponsor clinics, and fund research initiatives.
  • Corporate Partnerships – Companies can support through corporate social responsibility (CSR) programs or targeted sponsorships.
  • Medical Expertise – Healthcare professionals can collaborate by participating in clinics, research projects, or training programs.

24. How does RDIF ensure patient confidentiality?

RDIF follows strict protocols when handling patient data. Registration forms, helpline interactions, and research collaborations all adhere to privacy policies that protect sensitive information. Patient details are disclosed only to relevant healthcare specialists or research partners with the patient’s informed consent.

25. Where can I learn more about RDIF’s activities and upcoming events?

  • Official Website – Check RDIF’s site for news, announcements, and ways to get involved.
  • Social Media – Follow RDIF’s social channels for real-time updates.
  • Newsletters – Subscribe to the RDIF newsletter for in-depth articles, patient stories, and information about conferences, clinics, and more.

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