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Fourteen-year-old Emily Deacon has a chromosome disorder that is so rare even the specialists don’t have a name for it. She was born with club feet and epilepsy and, as a teenager, still does not speak and is in a wheelchair. When she was first diagnosed, her mum, Liz, said...
To commemorate World Rare Disease Day, the Organisation for Rare Diseases India will hold the 8th edition of ‘Race for Seven’ on Sunday. The event’s objective is to raise awareness of the need for preventative measures to contain rare diseases such as consanguineous marriages, prenatal tests, and informed decisions about...
A foreign drugmaker has thrown a gauntlet to the Korean rare disease treatment market. Italy-based Recordati is the company. On Rare Disease Day Feb. 28, the company launched Recordati Korea, its Korean offshoot and Asia-Pacific headquarters, declaring its official advance to the Korean and regional market. Unlike most other pharma...
Northwestern University researchers have developed a new injectable therapy that harnesses “dancing molecules” to reverse paralysis and repair tissue after severe spinal cord injuries. In a new study, researchers administered a single injection to tissues surrounding the spinal cords of paralyzed mice. Just four weeks later, the animals regained the...
Bath, UK – New understanding of a gene that is linked to some forms of dementia and other age-related diseases gives scientists fresh hope that action can be taken against these diseases long before the onset of symptoms. The gene – called Angiogenin or ANG – is associated with a number of neurodegenerative diseases...
The Markham family started a GoFundMe page to raise funds to save their son Damian’s life from acid sphingomyelinase deficiency on May 17, 2021. On Feb. 28, the family hit a significant mark on their fundraising journey – raising $1 million. ASMD is a rare progressive genetic disorder that can...
Abstract  Leuven, Belgium – Objective As achalasia is a chronic disorder, long-term follow-up data comparing different treatments are essential to select optimal clinical management. Here, we report on the 10-year follow-up of the European Achalasia Trial comparing endoscopic pneumodilation (PD) with laparoscopic Heller myotomy (LHM). Design A total of 201...