Post Date: Post Date – 12:19 AM, Thursday – November 3rd
Hyderabad: There is a group of diseases that fall under the category of “orphan diseases” and the drugs needed to treat them are often referred to as “orphan drugs”. Because these diseases are rare, pharmaceutical companies tend to avoid investing in expensive research and development of drugs for them. As a result, they have earned the nickname of orphan disease.
With advances in technology and a better understanding of the role of genetic mutations in causing these rare diseases, researchers and clinicians now believe these diseases are preventable and, in the near future, new therapies can be developed to treat them some of these diseases.
The findings offer a ray of hope for patients struggling with a lack of medication, as well as for Indian couples planning to start a family. Using DNA sequencing technology, Indian scientists are exploring the possibility of understanding the causes of rare diseases and eventually developing cheaper diagnostics and therapies to treat or manage patients’ existing conditions.
A third, or 33%, of all rare diseases in the world originate in India. “Rare diseases are very common in South Asian countries, especially in India. If you see such diseases in general across India it is rare, but at the same time, you will find a lot of this in a specific part of India, in a specific community If you look at rare diseases as a whole, there are about 70 million people in India with rare diseases and there is definitely a need to find solutions,” said Dr K Thangaraj, Director, Centre for DNA Fingerprinting and Diagnostics (CDFD), on an encounter with rare genetic diseases ,Say.
Nearly 90% even believe that almost all rare diseases are caused by genetic mutations, and most of them are monogenic, which means that the disease is caused by a single gene mutation. Often, these rare diseases are aggressive in nature, very debilitating and life-threatening in the long term.
Interestingly, thanks to rapid advances in genomic technology, over the past decade, researchers are now able to identify more rare diseases and the associated genes that cause such rare diseases. Rare diseases also include rare hereditary cancers, autoimmune diseases, congenital malformations, and infectious diseases, according to various research papers. Interestingly, nearly half of rare diseases affect children.
cost factor
A major difficulty in dealing with rare diseases is the cost factor involved in treating the disease or managing symptoms. According to Dr K Thangaraj, the average annual recurring treatment cost of a patient with a rare disease is Rs 1.8 lakh to Rs 170,000, making it almost unaffordable for patients in economically disadvantaged areas.
“For example, treating a cystic fibrosis patient would cost between £12,000 and £15,000 per month. Obviously this will cost more in India. There are 7,000 rare diseases, but there are some treatments for less than 300. However , about 95% of rare diseases do not have an approved treatment. In this case, it is better to avoid such rare diseases than to treat them,” Dr Thangaraj said.
Why are rare diseases common in India?
“The main factor contributing to rare diseases is arranged marriage, which has been practiced in India for at least 2,000 to 3,000 years. Consanguineous marriages and long-term consanguinity like endogamy are major contributors to the rare disease epidemic in India,” said Dr. Thangaraj. More or less, endogamy is widely believed to be the practice of marrying within a community or caste in the northern parts of the country, while consanguinity is prevalent in southern India and is responsible for many rare diseases. .