In what can be termed as a promising development for the rare disease community, a pilot study of rare undiagnosed diseases has shown that the Whole Genome Sequencing improves diagnosis by 25%. In this pilot study, the researchers from the University of Exeter, Genomics England and Queen Mary University of London pooled genes of 4,660Read more
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It is a herculean task to get insurance cover for rare diseases as they don’t usually exist for such patients. With over 7000-8000 rare diseases, some of which have a costly treatment protocol while many others have no available cure at all, it becomes all the more difficult. Here is a news story that mayRead more
Being compassionate to the needs of rare disease patients has been a pet concern for late Dr Nyapati Srinivasa Rao, 61, in his long association with the Indian Organisation for Rare Diseases (IORD) as a managing committee (MC) member. The humble and always gentle doctor had his feet deeply grounded on research in alternative medicineRead more
If you are a Rare Disease patient in need of a disability certificate, you may no longer need to face the hassle of going around offices as the Department of Empowerment of Persons with Disabilities (DEPwD), Government of India, has now made it mandatory for all physically challenged in India to apply for one onlyRead more
The Union Health & Family Welfare Ministry has officially approved the “National Policy for Rare Diseases 2021” on 30th March 2021. This development comes in the wake of the Delhi High court pulling up the union health ministry and setting a deadline of 30th March 2021 to notify the National Health Policy for Rare DiseasesRead more
The Indian Organization for Rare Diseases (IORD) – a not-for-profit umbrella organisation – hosted a webinar on ‘Rare Diseases: Prevention’ with top global speakers on February 2, 2021. The topic assumes significance, as the estimated rare diseases population in India is about 90 million. Irrespective of what definition we use for rare diseases, more thanRead more
In a reversal of turns, Orphan Drugs manufacturers in India may likely get some much needed relief from the proposed Rs 15,000 crore production linked incentive (PLI) scheme, according to latest news reports. This is a key milestone for the Indian Rare Disease fraternity including Indian Organisation for Rare Disease, an umbrella organization representing interests of allRead more
Rama was born normal. By the time she was six, her life underwent catastrophic events — blindness, breathing problems, asthma, growth problems. These resulted in consultations with multiple doctors and repeated hospitalization. After six years, her condition was given the name Maroteaux-Lamy Syndrome, a genetic disorder that no one had ever heard of and withRead more