Health and Tech: Orphan Diseases not ‘orphan’ anymore

Thanks to DNA sequencing technology, Indian scientists are exploring the possibility of understanding the causes of rare diseases and eventually develop cheaper diagnostics and therapies that can either treat or manage the existing conditions among patients.

Hyderabad: There are a group of ailments that fall under the category of ‘Orphan Diseases’ and the drugs that are needed to treat them are often called ‘Orphan Drugs’. Since these diseases are rare, pharmaceutical companies tend to avoid rolling out financial resources to conduct expensive research and develop drugs for them. As a result, they have earned the sobriquet of Orphan Diseases.

With the development of technology and a better understanding of the role of genetic mutations in causing these rare diseases, researchers and clinicians now believe that such ailments are preventable and in the near future, novel therapeutics can be developed to treat a few of such diseases.

---

Such findings are a ray of hope for patients, who struggle with unmet healthcare needs due to lack of drug availability and for Indian couples who are planning to start a family. Thanks to DNA sequencing technology, Indian scientists are exploring the possibility of understanding the causes of rare diseases and eventually develop cheaper diagnostics and therapies that can either treat or manage the existing conditions among patients.

Of all the rare diseases in the world, one-third i.e. 33 per cent, are from India. “Rare diseases are very common in South Asian countries, particularly in India. If you see in general across India, such diseases are rare but at the same time, you will find such ailments in large numbers in one particular region, among a particular community, in India. If you look at rare diseases as a whole, about 70 million people are suffering from rare diseases in India and there is a definite need to find solutions,” Director, Centre for DNA Fingerprinting and Diagnostics (CDFD), Dr K Thangaraj, during a meet on rare genetic disorders, said.

Nearly 90 per cent and some even argue that almost all rare diseases are caused by genetic mutations and a majority of them are monogenic, which means that the ailment is caused by one single gene mutation. Usually, these rare diseases are aggressive in nature, chronically very debilitating and life-threatening.

Interestingly, due to rapid advancement in genomic technologies, in the last decade, researchers are now able to identify more rare diseases and the associated genes that are causing such rare ailments. According to various study papers, rare diseases also include rare inherited cancers, autoimmune diseases, congenital malformations and infectious diseases amongst others. Interestingly, nearly half of the rare diseases affect children.

Cost Factor

A major difficulty in handling rare diseases is the cost factor involved in treating the ailment or managing the symptoms. According to Dr K Thangaraj, the average annual recurring treatment cost for one patient who is suffering from a rare disease is Rs 18 lakh to Rs 1.7 crore, which makes it near impossible to afford for patients from economically weaker sections.

“For instance, the monthly cost for treatment of patients with Cystic Fibrosis will cost anywhere between 12,000 and 15,000 UK Pounds. Obviously, this will cost more in India. There are a total of 7,000 rare diseases but less than 300 have some therapies for treatment. However, about 95 per cent of rare diseases have no approved treatment. In this scenario, it is always better to avoid such rare diseases, instead of treating them,” Dr Thangaraj, said.

Why rare diseases common in India?

“The primary factor for rare diseases is arranged marriage that is practiced in India for at least 2,000 to 3,000 years. Consanguineous marriages and extended consanguinity like endogamy are major factors for the prevalence of rare diseases in India,” says Dr Thangaraj. More or less, there is a general acceptance that endogamy, which is a practice of marrying within a community or caste, prevalent in northern parts of the country and consanguinity in South India are responsible for many of the rare diseases.