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In what is touted as the first time in India and 4th case in the world, a joint team of doctors from the state government run Osmania General Hospital & Niloufer Hospitals performed a live liver transplantation on an 8-month-old child diagnosed with an extremely rare NISCH syndrome. The marathon surgical procedure by the teamRead more

India has the largest rare disease population in the world, said speakers attending the ‘Dr N Srinivasa Rao Memorial Symposium – Rare Diseases & Alternative Treatment’ at Hyderabad on 25th June, saying it is home to an estimated 25% of the world’s rare disease burden. Every year, it is estimated that some 250 odd newRead more

In what is seen as a step in the right direction, the government has hiked the grant for rare disease treatment from Rs 20 lakh to Rs 50 lakh as per a new office memorandum issued on May 19, 2022 by the Union Ministry of Health & Family Welfare Rare Diseases Cell, New Delhi. InRead more

Nine-month-old Advik Pravin Deshmukh from Maharashtra has been battling Propionic Acidemia – an ultra-rare disorder. It leaves one with a serious and life-threatening inherited metabolic disorder.   For Advik Pravin, the diagnosis of this rare metabolic disease can be termed to have happened on time as there is more likelihood of this ultra-rare disease not gettingRead more

There seem to be wide gaps in the FDA approval process as clinical trials data of 220 approved Orphan Drugs for rare diseases go missing in the US-based public registry ClinicalTrials.gov, finds a new study by three Indian researchers. The research study was undertaken by a three-member team of Mohua Chakraborty Choudhury, Indraneel Chakraborty andRead more

Despite being born with the rare genetic disorder Duchenne Muscular Dystrophy (DMD), 15-year-old K S S R A Praneeth managed to carve a niche for himself in chess for the disabled. He is a former junior national chess champion for the disabled and has been awarded a special prize for his ‘skills’ in the BrilliantRead more

Living with Isaac Syndrome – known to be having less than 40 recorded cases in India as quoted in this article – came along with baggage of issues for Rare Disease survivor Rachit Shah, throwing his life into a chase for treatment & recovery from the rare disease. Diagnosed in 2016 with Issac Syndrome (alsoRead more

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

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