Back in 2020, three-year-old Amol was diagnosed with Adrenoleukodystrophy (ALD), a genetic disorder linked to the X chromosome. That marked the beginning of a long and exhausting journey for his family—not just against the disease, but against every passing day that seemed to steal a little more of his childhood. “We started regular MRIs,Read more
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Jagruti Rajendra Sanghvi, Co-founder of the Indian Porphyria Association and a rare disease survivor, urges for national access to Hemin, the only effective treatment for Acute Intermittent Porphyria (AIP). Jagruti Rajendra Sanghvi’s diagnosis for Acute Intermittent Porphyria (AIP) came after nearly four years of severe and unexplained abdominal pain, repeated hospitalizations, and extensive misdiagnoses rangingRead more
In May 2025, rare disease research advanced significantly with breakthroughs in AI diagnostics, CRISPR therapies, and rapid genetic testing. IORD presents a curated round-up of the month’s most impactful developments. From innovative tools at AIIMS to global success stories in treatment and awareness, these developments mark a turning point in how rare genetic conditions areRead more