1. What is a rare disease?
By definition, a rare disease occurs infrequently in a population, but there is no universal definition. In the USA, a rare or orphan disease is defined strictly according to its prevalence, specifically ” any disease or condition that affects less than 200,000 persons in the United States,” or about 1 in 1,500 people. European Union (EU) considers diseases affecting fewer than 1 in 2,000 persons to be rare. In Japan a rare disease is defined as affecting not more than 1 in 2500 people. Considering the population of India the suggested threshold for India for a disease to be defined as rare is 1 in 10,000.
2. How many people are affected by rare diseases?
- 30 million Americans
- 29 million people in the EU alone
- 70 million Indians
- All rare diseases taken together affect about 6-8% of the population.
3. How many rare diseases are known today?
It is estimated that approximately 7,000 rare diseases known to exist.
4. How many rare diseases have drugs that can treat this condition?
- Over 600 FDA approved orphan drugs between 1983 and 2019
5. What is the cause of rare diseases?
About 80% of rare diseases are genetic disorders, many of which are thought to be monogenic.
6. What are some examples of rare diseases?
Rare diseases also include rare cancers, autoimmune diseases, congenital malformations, and infectious diseases amongst others. About half of the rare diseases affect children while the remaining manifest in adulthood. Some examples of rare diseases include Hemangiomas, Hirschsprung disease, Gaucher’s disease, Cystic Fibrosis, Lysosomal Storage Disorders, Muscular dystrophies, Spinal Muscular Atrophy and Pompe disease.
7. What are some of the problems experienced by people who have rare diseases?
- Difficulty in obtaining an accurate diagnosis. Long diagnostic odyssey that can extend to 7 years in the U.S and much longer in a country like India
- Limited treatment options as the pharma/biotech companies do not invest sufficiently in rare diseases Little or no research being done on the disease
- Difficulty finding physicians or treatment centers with experience in treating a particular rare disease
- Treatments that are generally prohibitively expensive than those for common diseases
- Reimbursement issues related to private insurance, Medicare, and Medicaid
- Difficulty accessing medical, social, or financial services or assistance because those making the decisions are not familiar with the disease
- Feelings of isolation and of having been abandoned or orphaned by our healthcare system
8. What is Rare Disease Day?
Rare Disease Day is an annual global event on the last day of February to focus attention on rare diseases as a public health concern.
9. When is Rare Disease Day?
Each year, Rare Disease Day is observed on the last day of February (Feb. 29 in leap years and Feb. 28 in other years).
10. When was Rare Disease Day started?
Rare Disease Day was first observed in Europe in 2008. It was established by EURORDIS, the European Rare Disease Organization. In 2009, EURORDIS asked NORD to be its partner in this initiative and to sponsor Rare Disease Day in the United States.
11. What happens on Rare Disease Day?
Patients, their families, caregivers and researchers show their support by posting stories, videos and blogs or hosting or attending events to raise awareness about challenges associated with living with a rare disease. A wide range of activities are planned and executed to celebrate the day.
12. Where is Rare Disease Day Celebrated?
Rare Disease Day is celebrated all over the world. In 2013, more than 60 countries participated. Activities are organized both virtually and in-person. To learn more about these activities, you can visit www.rarediseaseday.us for US activities or www.rarediseaseday.org for global activities and www.ordindia.org for India activities.
13. What can I do to participate in Rare Disease Day?
There are many ways to get involved in Rare Disease Day. To find the activity that is right for you, visit www.rarediseaseday.us or the global website www.rarediseaseday.org or www.ordindia.org for India activities.
14. What is the Organization of rare diseases in India (ORDI)?
A neutral, non-profit organization that was founded by a group of volunteers with diverse backgrounds such as in IT, bioinformatics, healthcare, genetics/genomics and biotechnology and NGO. ORDI’s mission is to be the collective voice of every rare disease patient, family member, health care professional in India by pooling together expertise, efforts, and resources to help early diagnosis, treatment and management of rare diseases in India.
15. What is ORDI’s vision?
ORDI’s vision is to make rare diseases in India diagnosable and treatable just like other common diseases such as diabetes, breast cancer and cardiovascular disease etc. We dream of a day when all Indian citizens affected by rare diseases will have equal access to diagnosis, treatment and management of their condition.
16. Why was ORDI formed?
- The mortality and morbidity of rare diseases is believed to be high in India compared to western countries due to consanguinity and the way marriages are arranged in Indian culture.
- India does not have legislation or government policy similar to the Orphan Drug Act that the U.S has passed. ORDI would like to influence and lobby the Indian government to pass such an act that would result in provision of incentives and government support for research, drug development and diagnostics to address all rare diseases in India.
- India offers plenty of opportunities for innovative and cost-effective ways to diagnose and treat rare diseases.
17. What has ORDI accomplished thus far?
- Rare Diseases Patients Helpline and Helpdesk: ORDI runs a national rare disease hotline (+91 8892 555 000) to hear the needs of patients with rare diseases. ORDI will setup a dedicated helpdesk with the goal of enabling patients, access to information and resources to guide them through the process of diagnosing and dealing with the rare conditions affecting their health and quality of life. We are in the process of fund raising efforts with foundations and corporate entities.
- ORDI develops and maintains a public website, a patient portal, organizes awareness campaigns, and an annual rare disease conference in India.
- We are very encouraged by the enthusiasm and support of several national and international rare disease organizations for our mission. Rare Genomics Institute (RGI) represents one of our early partners in USA. RGI is helping to facilitate crowd funding for genomic-based research to help undiagnosed and economically disadvantaged patients with rare disease in India. Several Indian disease-specific patient advocacy organizations and biotech industry bodies have confirmed their collaboration with ORDI.
- Existing organizations such as foundation for research in rare diseases and disorders, MERDIndia and primary immune deficiency organization are formally collaborating in India and we are inviting all existing disease-specific foundations.
- Over 25 expert rare disease doctors from all over India are working with us.
- We have received pledges from several corporate entities including Pharma and Biotech and diagnostic companies in India.
- ORDI has developed a white paper on our strategy to combat rare diseases.
- ORDI founder members along with numerous thought leaders in the rare disease community have authored a review paper on rare diseases. We have submitted this to an internationally peer reviewed journal.
18. What are ORDI’s planned activities after the launch?
- Organize sponsored clinics that are at no cost to the patients with rare diseases by inviting national and international medical and research experts for selected rare diseases. The scope for this is enormous as there are 7000+ rare diseases and 70+ million patients in India. We will identify 5-10 diseases for the first couple years and coordinate clinics for them in metro cities with attendance by surrounding rural patients to the extent possible.
- Design, develop, maintain and make available, a registry of patients with rare diseases in India. Initially, this registry could be developed for a single or a group of rare diseases and eventually replicated to accommodate all rare diseases. This registry would be utilized for identifying patients for free/sponsored clinics, enrollment into clinical trials, broadcast important announcements, maintain patient informed consents to participate in special clinical research programs, etc.
- Biospecimen repository (Biobank) for rare diseases research: To enable the preservation of and utilization of biospecimens related to patients with rare diseases in India, ORDI shall provide a biobanking facility and enable access to researchers investigating rare diseases in India. These specimens are shared according to applicable laws and standard operating procedures (SOPs) relevant to human subjects research.
- Funding program for rare disease researchers in India: At least five competitive research awards based on external review to winning proposals. The biospecimens in the ORDI Biobank and the ORDI patient registry would be made available as resources to the grantees of these awards. ORDI will also catalyze relevant international collaborations for these grantees.
- Lobby and influence the government of India to pass legislation similar to the Orphan Drug Act.
- Bring a many of the rare disease organizations in India under one umbrella.
19. What can Indian government do for rare diseases?
The government of India has a crucial role to play in advancing progress in this area. We recommend government agencies to sponsor various activities beginning with a national level needs assessment of various stake holders in the rare diseases community.
- Special Healthcare policy to include all Rare Diseases in India from Diagnostic, Treatment and Rehabilitation and Supportive care for those where there is no Treatment options.
- Encourage and ease the process for international pharma to introduce FDA and EMA approved orphan drugs for the benefit of Indian patients with rare diseases.
- Setting up an exclusive rare disease department/unit under the health secretary to address the needs of patients with rare diseases. Such a department should have appropriate budget to meet these above needs. A single window for clearance of import of orphan drugs and life-saving drugs would be ideal.
- Government should clear all hurdles to allow swift review and approvals of appropriately designed clinical trials that meet regulatory compliance.
- Tax subsidies for companies involved in diagnostics, drug development and R&D for rare disease. This will certainly encourage global and local companies to invest in rare diseases.
- Conduct and gather comprehensive surveys (e.g., part of census) to understand needs of rare disease stakeholders nationally to incorporate in the government’s healthcare vision document. This can provide the necessary statistics to plan for future budget allocations and strategic initiatives for rare disease community.
- The medical education and training programmes for government doctors to include not only the most common diseases but help create the next generation of doctors trained in diagnosing and treating rare and genetic diseases. These changes are aligned with the global medical community that is rapidly embracing the practice of ‘personalized’ medicine. Also, the curriculum needs to be updated accordingly for medical education in the country to ensure future doctors are equipped with necessary skills to effectively diagnose/treat rare diseases.
- Encourage the pharma research and development community to invest in discovery of novel diagnostic methods and orphan drug development by offering incentives. The US, Japan and other countries have enacted Orphan Drug Acts for this purpose in their respective countries since 1983, and the time is ripe for the most populous democracy to act now.
20. What is the extent of support that rare diseases get in other countries?
Government of USA has been at the forefront of legislating policies for rare disease stakeholders. The US government funded rare diseases community needs assessments (nation-wide surveys) on three occasions: First, in the 1970s, approximately 5 years prior to the enactment of ODA; Second, in the 1980s about 5 years after the Orphan Drug Act and then as part of a Special Emphasis Panel on the Coordination of Rare Diseases Research in 1998. The surveys completed were the needs and priorities of the patients/families, physicians and medical specialists, research investigators, voluntary health organizations (patient advocacy groups), the pharmaceutical industry, and philanthropic foundations, regulatory agency (FDA), biomedical research agency (NIH) and other government agencies such as Health Resources and Services Administration (HRSA) and the center for disease control (CDC). According to the office of rare disease research (ORDR) at NIH, these surveys helped identify the needs and opportunities to implement specific recommendations provided by the stakeholders. In many cases, these recommendations even became part of the legislative initiatives such as the Orphan Drug Act in 1983 and then the Rare Disease Act of 2002. We urge the government of India to similarly take a lead in initiating and funding such needs assessments formally and paving the way towards developing a roadmap for tacking rare diseases in India.
21. What are important issues that are still prevalent in human genetics?
The biggest challenge when it comes to my profession is to make people realize that genetic problems are treatable. In fact, even doctors are lax in identifying problems as they think that genetic diseases are untreatable anyways. But now for even common diseases like diabetes and hypertension, genetic answers are available by determining genetic composition.
Of course, consanguineous marriages in India are proving to be a big challenge in dealing with ever increasing cases of marriage. Some countries have banned consanguineous marriages. But in India we cannot do that but at least we can make them understand that where in your family you have a genetic problem then do not marry consanguineously.