Rare Diseases in India

Why in News?

Indian Organization for Rare Diseases (IORD) reported that out of 300 million people with rare diseases in the world, about 90 million are in India.

• Definition – According to WHO, Rare disease is a lifelong disease with a prevalence of 10 or fewer per 10,000 population.
• According to Organization of Rare Diseases India (ORDI) defined rare disease is defined as a disease that affects 1 in 5,000 people.
• Rare disease in children - 80% of these conditions are genetic in origin and predominantly affect children, about 30% of the children don’t live to see their 5^th birthday.
• Fewer than 5% of rare diseases have treatments approved by the U.S. Food and Drug Administration.
• More than 95% of these conditions don’t have a therapy or it may be impossibly expensive.
• Reason for rare disease in India - Real number is likely to be higher since our social practices include endogamy, the practice of marrying within a community.
• Genetic condition in that community, endogamous marriages will tend to preserve that condition instead of letting it die out.
• Consequences – Expensive treatment, non-suitable insurance policies,
• Compensatory treatment by companies (not a feasible way of obtaining treatment), forced to get crowd funding.
• Creating awareness - Premarital counselling - Scientists and health advocates have collaborated with communities to discourage marriages between carriers of the same genetic mutation.
• This helps reduce the risk of passing on hereditary conditions to children.
• Awareness among doctors - Doctors may never have encountered them and are often unaware of these diseases.
• Inform registry – often medical problem is not reported, which would be essential to help draft suitable policies to support patients.
• Needed to help patients connect with each other, and so that industry identifies market opportunities to develop suitable therapies.
• GenTICS - Developed by Tata Institute for Genetics and Society, Bengaluru, a gene database on rare genetic disorders”.
• This is a valuable resource, since a user can choose from a list of symptoms to predict the possible rare disease.
• The patient’s family can then take the information to their doctor and seek support from a patient group.
• Molecular Diagnostics Counselling Care and Research Centre (MDCRC) in Coimbatore – Working on Duchenne muscular dystrophy (DMD), a disorder that affects only male children, with females being the carriers.
• MDCRC has done large-scale genetic screening across several districts of Tamil Nadu intending to detect the relevant mutations early and eventually eradicating DMD from the State.
• Similar efforts are required for many disorders around the country.

Reference

The Hindu| Rare diseases have a lot to gain from greater awareness