Rare diseases have a lot to gain from greater awareness

Approximately 10,000 rare disease has been identified in the world and new ones have been discovered each time. Approximately 80% of these conditions are genetically caused and mainly affect children. Approximately 30% of children do not live to see their fifth birthdays. Although it is rare individually, approximately 300 million people in the world have a rare disease.

For various reasons, it is important to raise awareness of rare diseases in the country. First, doctors may have never met them, and often they are not aware of these diseases. Secondly, if the medical problem is not reported, the number of patients is not available in a registry, which will be necessary to help prepare appropriate policies to support patients. A detailed table is needed to help patients connect with each other, and thus defines industry, market opportunities to develop appropriate treatments.

In the definition of rare diseases, Iliyas Rashid and Tata Genetics and his team at the Institute of Genetics and Society developed. Deer“A gene database on rare genetic disorders”. This is a valuable resource, because a user can choose from a list of symptoms to predict possible rare disease. The patient’s family can then take information to their doctors and get support from a patient group.

So far, less than 5% of rare diseases have treatments approved by the US Food and Pharmaceutical Administration. Even those who own are quite expensive. It is unlikely that a patient in India will have the appropriate insurance scope. Sometimes companies provide a free medicine for compassionate reasons, but this is not a reliable way to buy. Some have managed to raise the money through crowded supply.

Approximately 90 million out of 300 million people in the world are in India. However, the real number will be higher, because our social practices contain endogamy, which is a marriage practice in a community. If there is a genetic situation in this community, endogamous marriages tend to protect it instead of allowing it to die.

More than 95% of these conditions are not treated or impossible may be expensive. In such a scenario, the best option can be pre -marriage consultancy between others. Now there are situations in which scientists, doctors, or non -profit organizations work together with local communities to encourage individuals who are carriers of certain mutations to increase the chances of having an affected child.

If such marriages are avoided, the situation will be eliminated over time. In this context, exemplary studies were carried out by BR Lakshmi and his colleagues at the Molecular Diagnostics Consultancy and Research Center (MDCRC) in Coimbatore. Duchenne muscle dystrophy (DMD), a disorder that affects boys only, is working on women’s carriers. MDCRC made a large -scale genetic screening in various parts of Tamil Nadu to detect relevant mutations and eventually destroy the DMD from the state. Similar efforts are required for many disorders throughout the country.

In summary, be aware of rare diseases. It usually takes years for a patient to get the right diagnosis. Rashid’s database should help reduce the pain of patients and families.

Gayatri Sabrewal is a consultant at the Tata Genetics and Community Institute.