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
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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
Known otherwise as Kleine-Levin Syndrome (KLS), Sleeping Beauty Syndrome is known to be one of the extremely rarest of rare diseases with medical literature recording only about 500 cases around the world. In this rare condition, the body craves excessive sleep for 15-20 hours (hypersomnolence or hypersomnia) and overeating (compulsive hyperphagia) with accompanying neurological tendenciesRead 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
In a historic first, the UN General Assembly adopted a resolution for “Addressing the challenges of persons living with a rare disease and their families” at its 76th Session on December 16, 2021. The landmark resolution – which calls UN member states to achieve universal health coverage by 2030 for all including persons living withRead more